All Access DNA

We are talking about current events in genetics, including Olympic sex testing, genetic privacy in insurance, and legal challenges faced by genetic testing companies. It highlights how genetic information is used, misused, and the ongoing debates around privacy and ethics. Key words: Genetics, Olympic sex testing, Genetic privacy, Insurance discrimination, Genetic data lawsuits   Key Topics: The Olympics will start using SRY testing which is a scientifically flawed method of testing for biological sex Australia passes a country-wide law protecting against using genetic data in life insurance underwriting Recent lawsuit allegations bring up questions on how private your genetic data really is   Related Episodes: What are sex trait variations and how do we support intersex individuals? With Kaitlyn Brown Does genetics influence sex and gender? With Kim Zayhowski  When is rare disease not so rare? With Susanna Smith The DNA Dialogues Podcast episode #27: Protecting genetic information: Life insurance and GINA Should I delete my 23andMe data? With Anya Prince What should I know about buying a DNA test? With Andrew McCarty   Sources: Andrew Sinclair: World's Athletics' mandatory genetic test for women athletes is misguided. I should know- I discovered the relevant gene in 1990 Essay: Gender verification of female athletes A sex test for Olympic contenders harms all women by Chris Mosier and Erika Lorshbough Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance Genetic Discrimination is Coming for Us All by Kristen V. Brown How your health (and genetic results) affects your life, travel and health insurance Future implications of polygenic risk scores for life insurance underwriting Time to End the Use of Genetic Test Results in Life Insurance Underwriting U of Iowa Genetic Privacy in the US: Insurance and Law Enforcement Use Healthcare AI Firm Sued Over Alleged Unlawful Disclosures of Genetic Data Tempus AI Sued for Breach of Genetic Information Privacy Act Genetic data are not always personal- disaggregating the identifiability and sensitivity of genetic data Policy brief: can genomic data be anonymised? Global Alliance for Genomics and Health   Give your feedback and help shape All Access DNA! Take our listener survey here: https://forms.gle/x82MKLRftpKH987s7   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this insightful interview, genetic counselor Andy McCarty discusses the rise of private practice in genetics, the nuances of direct-to-consumer genetic testing, and how to interpret results responsibly. Learn about access, misconceptions, and the importance of professional guidance in genetic testing.    Key Takeaways: Not all genetic testing is the same Verify results with clinical-grade testing Consult a genetic counselor for interpretation of results Misleading results can impact your health decisions   Guest Bio: Andrew McCarty is a genetic counselor focused on bringing accessible, evidence-based genetic services to patients and healthcare teams. As founder of Clover Genetics, he works across specialties to interpret genetic test results, design patient-centered counseling pathways, and advise clinicians on appropriate test selection and follow-up. Andrew has a pragmatic approach: he prioritizes clear communication, action-oriented recommendations, and realistic expectations for what genetic information can  and cannot tell us.    Resources: Findageneticcounselor.org to search for a genetic counselor near you Clover Genetics, Andrew McCarty’s practice   Keywords: genetic counseling, direct-to-consumer testing, private practice, genetic results interpretation, healthcare access, genetic variants, clinical vs consumer testing   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Lori Jones shares her personal journey with Huntington's disease, exploring its symptoms, family impact, and the importance of community and research. Lori shares with us insights into living with risk, making decisions about testing, and advocating for better understanding and treatment.   Keywords: Huntington's disease, genetics, neurodegenerative, family impact, genetic testing, community support, research, memoir, advocacy   Key Topics: Genetic inheritance and risk of Huntington's disease Family impact and personal stories of living with HD The importance of community, support, and advocacy in HD Current research, clinical trials, and future hope for HD treatments   Guest Bio: Lori Jones has personally experienced the effects of Huntington’s Disease (HD) in her family and was instrumental in starting a Team Hope annual event in her area to raise awareness and support for research and community programs. She has been published in the Wisconsin HDSA Update Newsletter, and spoken in the public schools about HD, genetics, and presymptomatic testing. She has contributed short stories for Women in High Def by Diane Markins. A storyteller at heart, she regularly writes and speaks about her experiences with HD and many other topics to groups of all ages. Lori has three adult children and lives with her husband Chris in Wisconsin, when they aren’t escaping north to the Upper Peninsula of Michigan. “Spared: A Memoir of Risk and Resolve” is her first book.   Resources: Lori Jones’ Website Spared: A Memoir of Risk and Resolve Help 4 HD International International Huntington Association Huntington’s Disease Society of America Information on uniQure Take Our Listener Survey and Direct Future Episodes! https://tinyurl.com/mr3kcm6b Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In the realm of genetic counseling, understanding and support are crucial for families facing daunting medical news. When I sat down with Anna Chassevent, a seasoned genetic counselor, she shared valuable insights about the importance of walking alongside families during their journeys through uncertain medical terrain. In this post, we’ll explore her thoughts on meaningful communication, the role of personal experience in counseling, and how to foster a supportive environment for families in need. Key words: genetic counseling, living well, meaning, resilience, uncertainty, patient experience, psychosocial support, healthcare, mental health, genetic diagnosis   Key Takeaways: The importance of walking alongside families through unknowns Integrating personal lived experience into clinical practice Making meaning of challenging news and decisions The role of hope, resilience, and living well   Guest Bio: Anna is a board certified genetic counselor at the Kennedy Krieger Institute, specializing in pediatric neurogenetics. She graduated from The Johns Hopkins/National Institutes of Health Genetic Counseling Training program. She is also an associate professor, guest lecturer, student mentor, and published research author. She is passionate about supporting families in living well no matter their or their child’s diagnosis through uncovering what is meaningful to them, holding onto their strengths, and recognising their freedom and responsibility amidst life’s unexpected challenges. Anna has received training in a range of counseling methods and frequently incorporates logotherapy into her practice. In 2020, Anna was nominated by a patient for the esteemed Heart of Genetic Counseling Award. She is also a cancer survivor and parent to a child with developmental and behavioral delays, which has profoundly shaped how she cares for the families she sees.   Resources: “Man’s Search for Meaning” book by Viktor Frankl What is logotherapy? Findageneticcounselor.org to search for a genetic counselor near you   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this conversation, Kate talks to Shannon Wieloch about the complexities surrounding therapeutic abortions, particularly in the context of heartbeat laws and genetic counseling. They explore the emotional and medical implications of these decisions, the role of genetic testing, and the impact of legislation on patient care. Shannon shares her experiences working with patients facing difficult choices in wanted pregnancies, emphasizing the need for compassion and understanding in these situations.  Keywords: abortion, therapeutic abortion, heartbeat laws, genetic counseling, patient care, emotional support, healthcare legislation, prenatal care, reproductive rights   Key Takeaways: The emotional weight of decisions surrounding pregnancy choices is profound. Heartbeat laws often prioritize legal definitions over medical realities. Genetic testing can provide crucial information but is not always necessary. Patients often face significant emotional and financial burdens when seeking care. Legislation can complicate access to necessary medical procedures. Many patients feel isolated in their experiences of making pregnancy decisions.   Guest Bio: Shannon M. Wieloch, MS, CGC, is a board-certified genetic counselor with more than 24 years of clinical and industry experience across reproductive, prenatal, infertility, and genomic medicine. She currently serves as Director of Genetic Counseling at Fairfax Cryobank and is the founder of Stork Genetics, LLC, where she provides patient-centered genetic counseling. Shannon has served in senior clinical, product, and program management roles at Genome Medical, Mayo Clinic, CooperGenomics, and major academic medical centers. She has authored numerous peer-reviewed and professional publications, blog posts, and educational resources, and has regularly contributed to national conferences, podcasts, and professional committees within the National Society of Genetic Counselors. Here are more resources related to today’s topic: Links to Shannon’s pages: https://www.facebook.com/storkgenetic/ https://www.instagram.com/storkgenetics/ https://www.linkedin.com/company/stork-genetics “What You Need to Know About ‘Fetal Heartbeat’ Bills” by Madison Feller, Elle, published May 7, 2019 “Doctors’ organization: calling abortion bans ‘fetal heartbeat bills’ is misleading” from The Guardian Center for Reproductive Rights National Network of Abortion Funds Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this heartfelt interview, Abby Milburn shares her journey as a mother of a child with Down syndrome and Sanfilippo syndrome, a rare neurodegenerative disease. She discusses diagnosis challenges, advocacy efforts, and the importance of research and policy changes to support children with rare diseases.  Sanfilippo syndrome, Down syndrome, rare diseases, medical advocacy, genetic testing, FDA approval, gene therapy, medical research, advocacy, rare pediatric treatments   Key Topics: Sanfilippo syndrome diagnosis and symptoms Challenges in medical advocacy and policy The role of genetic testing and family history Impact of FDA approval process on treatments Importance of awareness and community support   Abby Milburn is a wife and stay at home mom to four children 5 years old and under. Her oldest daughter, Lottie, is extremely unique as she has both Down syndrome and Sanfilippo Syndrome. Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615 Instagram and Facebook handle: @letssavelottie   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615 Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/ Senate Hearing Special Committee on Aging: From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation UX111 Gene Therapy for Sanfilippo syndrome type A Ask Congress to urge the FDA to take swift action on rare disease treatments   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Chronic pain, invisible illness, Black health. In this conversation, Wunmi Bakare shares her profound journey living with sickle cell disease, detailing the challenges and triumphs she faced from childhood through adulthood. She discusses her experience with a stem cell transplant, the impact it had on her life, and the ongoing challenges she navigates post-transplant. Wunmi emphasizes the importance of patient advocacy, the need for compassionate healthcare, and the creation of Sickle Cell Prodigy, an organization aimed at supporting individuals with sickle cell disease and their families. The conversation highlights the resilience of patients and the importance of community support in managing chronic illnesses.   Key Takeaways: Living with sickle cell involves navigating stigma and misunderstanding. A stem cell transplant can significantly change a patient's life. Post-transplant, patients still face challenges and pain management. Advocacy is crucial for patients with invisible illnesses. Compassionate care from providers can improve patient experiences. Sickle Cell Prodigy aims to support patients and caregivers alike including Pre=Therapy Warriors and Post-Therapy Survivors.   Wunmi Bakare is a multicultural citizen and pioneering advocate in the sickle cell and rare disease community, known for her commitment to inclusion and stigma eradication. With a fervent dedication to advancing awareness and understanding, Bakare leverages both proactive and reactive media engagement to transform perceptions of sickle cell disease. Her lived experience fuels her advocacy and informs her leadership roles on the advisory boards for the National Health, Lung & Blood Institute, the American Board of Medical Specialties, Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, Fulcrum, and Healthful Data as well as her board memberships with the Sickle Cell Knowledge & Information Network, Sickle Cell Disease Partnership, and The Gift of Adoption Fund.  Diagnosed with the severe HbSS form of sickle cell disease at just 18 months old, Bakare's grueling journey led her to participate in a groundbreaking clinical trial at the NIH, culminating in a successful allogeneic stem cell transplant in 2019. Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a patient-driven nonprofit organization dedicated to redefining survivorship for individuals living with sickle cell disease who are exploring or recovering from transformative therapies, including bone marrow transplant and gene therapy.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Sickle Cell Prodigy website Though The Genes Podcast   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Primary Care and Genetics: Bringing DNA Into Everyday Healthcare. Primary care is often the first stop in healthcare—but where does genetics fit in? We unpack what’s realistic, what’s hype, and what patients and clinicians should actually expect. This conversation explores the integration of genetics into primary care, highlighting the importance of genetic testing and counseling in improving patient outcomes. The speakers discuss the evolving role of primary care physicians in addressing genetic health, the need for collaboration with genetic counselors, and the growing awareness among patients regarding genetic testing. They emphasize the necessity of ongoing education and advocacy for genetic professionals within the healthcare system.   Key Takeaways: Genetic testing can aid in preventative care and early diagnosis. Patients often bring their own genetic testing results to primary care. Genetic counseling can support primary care physicians in managing genetic concerns. Integration of genetics into primary care can improve patient outcomes. Genetic testing is not a one-time event; it may require re-evaluation. Patients are becoming more informed and proactive about genetic health. Collaboration between genetic counselors and primary care is essential.   Mylynda B. Massart, M.D., Ph.D., is a board-certified Family Medicine physician at UPMC, and associate professor at the University of Pittsburgh.  She currently serves as the founder and Medical Director of the UPMC Primary Care Precision Medicine clinic and as the Associate Director of Clinical Services for the Institute for Precision Medicine.  Dr. Massart is co-director of the HUB Core over Research Inclusivity and Community Partners Core at the Clinical and Translational Science Institute (CSTI).  Her research interests are in developing education in genetics and precision medicine for primary care providers and trainees and being a research catalyst facilitating the inclusion of underrepresented populations in biomedical research.  She teaches residents and medical students in her clinic and at the hospital and serves as medical director for Bethany Hospice.  Currently, Dr. Massart is one of the co-investigators for the All of Us Pennsylvania research project working on community education and engagement. In addition, she is working as a co-investigator to create the local Discovery Biobank at the University of Pittsburgh and developing systems to return precision medicine results to providers and patients.  Dr. Massart leads the Community Engagement Alliance Consultative Resource (CEACR), a partnership between the University of Pittsburgh CTSI and Community-Campus Partnerships for Health.   Natasha Berman (she/her) MA, MS, MPH, CGC is a clinical genetic counselor at the UPMC Department of Family Medicine who works within the primary care precision medicine clinic. She provides direct patient care to patients for a variety of indications. She has coauthored multiple textbook chapters covering family medicine genetic topics. Her primary areas of research include improving equitable genetics care.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Access to Genetic Counselor Services Act   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Building support, navigating the emotional journey of having a medically complex child. In this conversation, Madeline Cheney discusses her journey as a parent of a child with a rare genetic condition and the creation of her podcast, The Rare Life. She emphasizes the importance of building a community for parents facing similar challenges, the emotional impact of being a carrier of a genetic condition, and the role of advocacy in medical care. Madeline shares her experiences with grief, resilience, and the need for self-care, while also outlining the future goals of her nonprofit organization to support families in the NICU and beyond.   Key Takeaways: The Rare Life podcast was created to build a community for parents of children with disabilities. Navigating a rare diagnosis can be overwhelming, but support from others is vital. Advocacy is essential in medical care for children with disabilities. Building resilience is a gradual process for parents facing challenges.   Madeline is the host and founder of The Rare Life, a nonprofit podcast and community for parents of people with medical complexities and disabilities. She is mom to 10 year old Wendy and 7 year old Kimball who has a rare syndrome. Her experiences navigating medical complexities with zero community inspired the creation of The Rare Life. When she isn't hanging out with her family or working, she loves soaking in a hot bath with a good book or watching an old episode of Murder She Wrote.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: The Rare Life website and podcast Remember the Girls - advocating for females impacted by X-linked conditions   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Aging, genetics, and lifestyle. In this conversation, Daniel Tausan discusses the concept of longevity, focusing on biological age, biomarkers, and the interplay between genetics and lifestyle. He emphasizes the importance of understanding biological age as a measure of health rather than just chronological age. The discussion covers various biomarkers, the significance of blood tests, and how lifestyle choices impact aging. Daniel also touches on the role of telomeres, lifestyle habits for longevity, and the latest breakthroughs in longevity science. Philosophical perspectives on aging and the future of longevity research are explored, highlighting the importance of quality of life and the need for a cultural shift in how we view aging and death.   Key Takeaways: Biological age is a measure of health, not just chronological age. Understanding biomarkers can help assess health and aging. Genetics and lifestyle both play crucial roles in aging. Telomeres are important but not the sole factor in aging. Quality of life is essential in discussions about aging.   Daniel Tausan holds a graduate degree from the University of British Columbia in Stem Cell Biology with a Bachelor of Science in General Biology. He worked in research in the molecular profiling of exercise, looking into comprehensive blood panels in search of biomarkers for predictive health analytics with Molecular You and UBC’s School of Kinesiology to develop methods for biological age calculation.   He spent his early 20s with the Canadian National Waterpolo Team and coached the next generations of athletes to participate in the youth Pan-American games and World Championships. He personally trained clients for general fitness goals and athletic performance and continued to share the biological knowledge of the molecular world from his scientific pursuits.   Asthma, allergies and gastrointestinal challenges throughout his early years kept him eager to explore regenerative principles and the healthcare systems. Although the academic and industry surrounding the molecular biological revolution were exploding few professionals were present to help the public interact and integrate with the newfound biological knowledge. With a love for education and working directly with people he stepped away from academics. He launched Timeline Sciences to put “you” on the timeline aligned with your unique genome and goals.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Daniel’s website, Timeline Sciences “Achieving health human longevity: A global grand challenge” Science Translational Medicine journal “Healthy lifestyle in late-life, longevity genes, and life expectancy among older adults: a 20-year, population-based, prospective cohort study” The Lancet “The validity of Blue Zones demography: a response to critiques” The Gerontologist Ageing and health - an article from the World Health Organization   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Flexibility, pain, and fatigue are part of hypermobility EDS. In this conversation, Dr. Taylor Kerrins discusses Ehlers-Danlos Syndrome (EDS), particularly hypermobile EDS, covering its definition, symptoms, diagnosis, and management strategies. He shares personal experiences with the condition, the challenges of obtaining a diagnosis, and the importance of physical therapy and exercise. The discussion also touches on genetic testing and available support resources for patients. Taylor emphasizes the need for ongoing research and understanding of EDS, highlighting the complexities of the condition and the importance of community support.   Key Takeaways: EDS is a connective tissue disease with various types. Joint dislocations are common in individuals with hypermobile EDS. There is no specific genetic test for hypermobile EDS. Exercise is extremely helpful but must be tailored to the individual.. Support groups provide valuable resources and community for EDS patients. Ongoing research is essential for understanding EDS better.   Dr. Taylor Kerrins is a Clinical Assistant Professor of Medical Genetics & Genomics at the Medical University of South Carolina.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: The Ehlers Danlos Society Information on hEDS from the Marfan Society American Academy of Family Physicians handout from 2021 The Norris Lab at MUSC   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Teratogens. Medications. Infections. Safe in Pregnancy. In this conversation, we explore the safety of exposure to certain things during pregnancy such as alcohol, beauty products, and yes even Tylenol. We learn more about how an agent or exposure is evaluated as being teratogenic as well as resources for pregnant individuals with questions.   Key Takeaways: Teratogens refers to an exposure (drug, chemical, infection, radiation, or substance) that can interfere with growth or development of an embryo or fetus.  Every pregnancy has a background risk of 3% for birth defects, unrelated to exposures or family history. The timing, dosage, and other risk factors play a role in the impact of a potential teratogen. It’s crucial to differentiate between correlation and causation in studies. Pregnant individuals should consult healthcare providers about medication use.   Nevena is a board certified genetic counselor and an assistant professor at the University of South Florida (USF), division of Maternal Fetal Medicine and serves as the Program Coordinator and Teratogen Information Specialist at MotherToBaby Florida. In addition to providing exposure counseling at MTB Florida and USF Exposures Clinic, she provides prenatal and preconception genetic counseling in various clinics across the Tampa Bay area. Nevena is the Associated Program Director and provides both clinical supervision and coursework instruction for students form the USF Genetic Counseling Program. Nevena earned her MS in Genetic Counseling from the University of Texas Health Science Center in Houston in 2012. She is the president elect of Organization of Teratogen Information Services (OTS). The views and opinions shared on the podcast are her own and do not represent those of her employer.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Birth Defects Registry & Prevention Mother to Baby website Human Teratogens course    Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Transgender and gender diverse cancer care, privacy, community safety. On this episode of All Access DNA, we talk to Dr. Mittendorf about hereditary cancer considerations for people who are transgender and gender diverse. We discuss management guidelines, cancer risks and how knowing hereditary cancer risk may inform medical decisions. The conversation also delves into the significant concerns surrounding the privacy of medical data for transgender individuals. It highlights the fear of being identified as trans in medical records and the potential repercussions of such identification, especially in light of recent legal actions involving healthcare providers.    On This Episode We Discuss: The ways gender affirming care can be impacted by hereditary cancer risk. The effect of gender dysphoria in making medical decisions. Hormone therapy (HRT) and cancer risk Privacy concerns are heightened for the transgender community. Recent instances have raised alarms about data security in healthcare. Community safety is a significant concern related to medical data. There is a need for better protections for sensitive health information.   Dr. Mittendorf is an interdisciplinary scientist whose current research focuses on translational genomics and cancer care delivery, especially as it impacts populations with reduced access to care. They have extensive experience in genomic evidence synthesis, data modeling, web application development, community-driven research design, implementation science, and genomic applications in care delivery. They have cross-disciplinary training that covers epidemiology, qualitative research, bioethics, and informatics. Their PhD in biochemistry, with a focus on molecular biophysics, gives them a unique foundation to understand the molecular mechanisms at play in the setting of clinical genomics.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Dr. Mittendorf’s website that includes links to research and resources CHESTcare website- CHESTcare stands for Cancer & Hereditary Risk Education & Support for Transgender & Nonbinary Individuals. CHESTcare is a resource for people who have had or are planning “top” surgery (gender-affirming mastectomy) or are taking or planning to take testosterone. Our goal is to empower you to make informed decisions about your health and cancer risk. YouTube video on Screening, prevention and gender affirming care for transgender people with mutations Hereditary cancer care for transgender and nonbinary people from FORCE Episode 6- How accessible is genetic testing? With Deanna Darnes Episode 19- Is cancer genetic? With Barry Tong Episode 26- Does genetics influence sex and gender? With Kim Zayhowski   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

Patient zero, memoir, understanding. In this conversation, Steven Crane shares his personal journey living with spina bifida, discussing the challenges he faced from birth through adulthood. He reflects on the support from his family, the medical treatments he underwent, and the impact of his condition on his life. Steven emphasizes the importance of advocacy, understanding, and resilience, and how he found purpose through writing about his experiences. He also addresses the complexities of navigating multiple health conditions and the role of healthcare providers in supporting patients.   Key Takeaways: Spina bifida is a multifactorial condition with varying degrees of impact. Advocacy for oneself is essential in navigating healthcare. Writing can be a therapeutic outlet for personal experiences. Being a patient zero can be both a burden and a responsibility. Empathy and understanding from healthcare providers can significantly affect patient outcomes. There are often hidden blessings in challenging circumstances. Community and shared experiences can foster healing and connection.   Steven Crane is the author of the memoir "I Can Appreciate That", the novel "Staring at the Ceiling", numerous essays, and more than a million words of advertising copy. A graduate of the University of South Carolina, Steven lives in Marietta, GA, with his wife Carie. Their two sons are navigating college at University of GA and GA Southern. More at: www.brainsofsteel.com. Facebook.com/ICATStory Instagram: @icanappreciatethat   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Steven’s website Purchase “I Can Appreciate That” Information on Spina Bifida from Mayo Clinic Spina Bifida Association   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Narrative medicine, story telling, BRCA and breast cancer. In this conversation, Sarah shares their personal journey with being a BRCA1 carrier and experiences with breast cancer. She discusses the emotional weight of genetic risk, the complexities of identity as a previvor, and the importance of narrative in understanding and coping with illness. Sarah also reflects on their professional background in medical anthropology and genetic counseling, emphasizing the need for patient-centered care and the power of storytelling in healthcare. The discussion touches on themes of grief, hope, and the ongoing nature of living with a genetic condition, culminating in Sarah's insights on how poetry and narrative can help articulate the complexities of these experiences.   Key Takeaways: Poetry allows for flexibility in expressing complex emotions. Language can create a sense of community but also exclusion. Grief is a central part of living with a genetic condition. Precision medicine must consider the holistic care of patients. Sarah Roth (@othersarah) is a writer, educator, and genetic counselor based in Baltimore. Her literary work appears in Columbia Journal, Denver Quarterly, Notre Dame Review, and elsewhere, and she ​is an assistant poetry editor at Asymptote Journal and editor in chief of Tendon Magazine. Sarah holds an MFA in Creative Writing from University of Notre Dame and is currently completing her PhD at Johns Hopkins University. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Sarah’s website  Synapsis: A Health Humanities Journal Tendon Magazine Episode 19- How does genetics impact cancer? With Barry Tong   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Heart disease and lack of genetic testing. In this conversation, Ana Morales discusses the critical signs of genetic heart disease, particularly focusing on early onset conditions and the importance of recognizing red flags such as elevated cholesterol and complications during/after pregnancy. She emphasizes that these health issues should not be ignored and highlights the need for awareness and proactive health management.   Key Takeaways: Having early onset heart disease of any kind is not normal. Early onset is defined as less than age 60. Severely elevated cholesterol, especially if it runs in families, is concerning. Onset of heart disease during or soon after pregnancy is a red flag. Thoracic aortic aneurysm at any age should not be ignored. Over 95% of people who have a genetic heart condition have not had genetic testing. Hereditary cardiac disease is underdiagnosed. Proactive health management can save lives.   Ana Morales is an Associate Professor at the Geisinger Department of Genomic Health, a board-certified genetic counselor, and a Translational Health Sciences Ph.D. candidate. Her dissertation, titled "Development of a Guideline-Based Innovation to Support the Genetic Evaluation of Cardiomyopathy and Arrhythmia: An Exploratory Mixed Methods Study," aims to address existing guideline gaps by developing an implementation plan for an innovation designed to support the genetic evaluation of cardiomyopathy and arrhythmia. Ana's prior work includes evaluating genetic testing utilization, highlighting the underutilization of cardiomyopathy genetic testing. She has also contributed to key literature, including co-authoring the American College of Medical Genetics and Genomics/Heart Failure Society of America guideline on the genetic evaluation for cardiomyopathy and the National Lipid Association guideline on familial hypercholesterolemia (FH).   Currently, Ana serves as the Principal Investigator for the NIH-funded IMPACT-FH study, which investigates implementation science-based strategies to promote cascade genetic testing in primary care. Ana has held professional leadership roles, including membership in the ClinGen Cardiovascular Disease and Ancestry/Diversity Working Groups, as well as serving as the 2019 President of the American Board of Genetic Counseling. She currently chairs the Clinical and Laboratory Standards Institute's Standard 29 group, a position dedicated to fostering effective communication and collaboration with clinicians and test utilization management.   Outside of her professional work, Ana enjoys spending quality time with family and friends, exploring new foods, dancing, appreciating visual art, and diving into diverse non-fiction books.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you DCM Foundation Implications of Genetic Testing in Dilated Cardiomyopathy Find a Cardiomyopathy Specialist Genetic Cardiomyopathy Awareness Consortium Global Heart Hub for non-US residents Episode 8- Should I consider genetic testing for dilated cardiomyopathy? With Greg Ruf Episode 9- How does family history shed light on sudden cardiac death? With Dr. Susan Liebman   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Weight management, epigenetics, and childhood obesity. In this conversation, Dr. Evan P Nadler discusses the complexities of childhood obesity, emphasizing that it is a disease influenced by genetics, maternal health, and lifestyle factors. He highlights the importance of understanding the role of epigenetics and the in utero environment in the development of obesity. The discussion also covers the myths surrounding childhood obesity, the impact of genetics versus lifestyle choices, and the potential benefits of genetic testing. Dr. Nadler advocates for a comprehensive approach to treatment, including lifestyle changes and medical interventions, while encouraging parents to seek help and to not feel shame about looking for answers.   Key Takeaways: Obesity is a disease, not a lifestyle choice. Genetics and epigenetics play significant roles in obesity Genetic predisposition can influence lifestyle choices. Genetic testing can help identify risks for obesity. Weight loss challenges may have genetic underpinnings. Food addiction and cravings are influenced by biology. The treatment landscape for obesity is evolving rapidly. Evan P. Nadler MD served as Co-Director of the Children’s National Obesity Programs and Director of the Child and Adolescent Weight Loss Surgery Program at Children’s National Hospital from 2009 until 2023. He was also a tenured Associate Professor of Surgery, and Pediatrics, at The George Washington University School of Medicine & Health Sciences and continues there as an Adjunct Associate Professor. Before moving to Washington DC, he was the Director of Minimally Invasive Pediatric Surgery at the New York University School of Medicine where he participated in US Food and Drug Administration-approved studies using laparoscopic adjustable gastric banding in adolescents with obesity. His current pursuits include pediatric obesity treatment program development as a Founder of ProCare Telehealth, authoring a book on obesity, and educating the public about obesity via his YouTube channel, website, and media appearances. Dr. Nadler is an international leader in the field of child and adolescent obesity, has authored multiple publications and textbook chapters on the topic of pediatric bariatric surgery, and was one of the founding members of the Childhood Obesity Committee of the American Pediatric Surgery Association.    Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Dr. Nadler’s YouTube Channel: https://www.youtube.com/@obesityexplained American Academy of Pediatrics Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents with Obesity NPR Article about the AAP Guideline and concerns about the guideline Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program from Nature Diagnostic yield of genetic testing for non-syndromic early-onset obesity in a multidisciplinary pediatric obesity clinic- abstract from Genetics in Medicine   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Diet, genetics, and lifestyle. In this episode we talk to Natalie Samson, a genetic counselor with certification in Integrative and Functional Nutrition who is also a certified Integrative Health Coach. We talk about the role of genetics and molecular/biochemical pathways that affect diet and weight. Natalie tells us about the role of genetic testing in nutrition management and functional health as well as the importance of working with a trained professional when considering this type of testing. We also discuss nutrigenetic testing for children and the integration of nutrigenomics into mainstream medicine.   Key Takeaways: Nutrigenomics looks at how genes and nutrition interact and how diet can affect gene expression and protein function. Genetic pathways can provide insights into diet. Weight is influenced by multiple factors, including genetics. Genetics can help tailor interventions for individuals. It is important to understand the content of the genetic testing and consult with a professional before and after testing.   Natalie is a board certified genetic counselor hoping to transform healthcare through personalized, integrative, and preventative approaches. She also obtained her Integrative Health Coach Certification and completed her Integrative and Functional Nutrition Certification. She established her own practice, Golden Genetics to introduce an integrative approach to genetic counseling and testing, combining it with nutrition and nutrigenomics.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Natalie’s practice- Golden Genetics and email: [email protected]   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Grief, genetics, and accessible testing. In this episode, Matt Goldstein shares his personal journey through grief after the loss of his daughter, Javi, who was diagnosed with Tay-Sachs disease. He discusses the impact of this experience on his career, leading him to focus on preventive genetics and the mission of JScreen, an organization dedicated to providing genetic testing and support. We explore the importance of preconception carrier screening, the advancements in genetic technology, and the emotional aspects of navigating grief and loss. Matt emphasizes the power of genetics in preventing diseases and the support systems available for families.   Key Takeaways: Genetic testing technology has advanced significantly in recent years. Faith and rituals can help navigate the pain of loss. Genetic counselors play a crucial role in the testing process. JScreen provides education and support for genetic testing and aims to make genetic testing accessible to all families.   Dr. Matt Goldstein, MD, PhD, is a dedicated physician-scientist and entrepreneur with a passion for advancing genetic research. As CEO of jscreen, he focuses on providing accessible, life-saving genetic testing to empower individuals with critical health insights. With extensive experience in biotech, Dr. Goldstein has led major initiatives, including founding and guiding companies like Tango Therapeutics and Neon Therapeutics through pivotal clinical developments and strategic partnerships.   A graduate of Stanford University's MD/PhD program, he completed his clinical training at Harvard Medical School. Driven by both professional and personal experiences, including the loss of his eldest daughter, Havi, to Tay-Sachs disease, Dr. Goldstein is deeply committed to jscreen's mission of proactive health management.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: J Screen website: https://www.jscreen.org/ Matt Goldstein’s LinkedIn: https://www.linkedin.com/in/matthew-g-27983942/ J Screen website: https://www.instagram.com/getjscreened/   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

“The more innovation happens, it doesn’t mean a thing if patients can’t have access to it.” Today’s episode of All Access DNA features Rome Madison. Rome’s podcast- Genetics for Healthcare- aims to educate patients about genetic information and its relevance to their healthcare. Rome shares his personal journey from a sales background to podcasting, emphasizing the need for patient advocacy and access to genetic information. We explore the balance between commercial goals and ethical responsibilities in healthcare, the challenges of navigating insurance coverage for genetic tests, and the role of technology in improving patient access to precision medicine. The discussion highlights the importance of empowering patients with knowledge and encouraging them to advocate for their health.   Key Takeaways: Genetics for Healthcare podcast aims to educate people about genetic information There is a gap in the US for patient access to precision medicine Personal experiences are motivation for healthcare advocacy Technology can improve access to precision medicine Patient education is crucial for informed healthcare decisions Genetics should be a routine part of healthcare conversations Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured. Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 tv and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare. Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Genetics for Healthcare: A Podcast for Patients   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.  

Prostate cancer, male infertility, and underserved populations. Brittany Szymaniak discusses the complexities of hereditary cancer risks, particularly focusing on prostate cancer and the role of BRCA genes. She emphasizes the importance of genetic counseling and testing, especially for men, and addresses the challenges in male reproductive health and infertility. The discussion also covers insurance aspects related to genetic testing and the significance of family communication regarding genetic results. Brittany highlights the need for increased awareness and research in men's health genetics, particularly for underrepresented populations. Key Takeaways: BRCA1 and BRCA2 mutations can affect both men and women. Men often overlook the importance of family history in cancer. Family communication about genetic results is essential. Many men are less likely to pursue genetic testing than women. Research in male cancer genetics is lagging behind. Diverse populations are underrepresented in genetic research. Brittany Szymaniak received her PhD in Genetics from the University of Rochester in 2016 and went on to complete her masters in Genetic Counseling from Northwestern University in 2018. That year Brittany joined the Urology Department at Northwestern Medicine as part of the Cancer Genetics Program, where she focuses on prostate/GU genetics, as well as male infertility. She also supports Digestive Health for inherited GI evaluations. Brittany is part of the core team that developed Northwestern’s EDGe (Early Detection in Genetics) Program, which provides follow-up care with patients with inherited cancer predisposition conditions. Under this program she serves as the point of contact for both Northwestern Medicine's BRCA+ Men's Clinic and VHL Clinical Care Center. She also serves as a panel member for the NCCN Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric Guidelines. Brittany is a faculty member with Northwestern's Genetic Counseling graduate program, serving as a thesis advisor, lecturer, and supervisor. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you HIS Breast Cancer Awareness The Prostate Cancer Foundation Resolve: The National Infertility Association   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Flexibility, pain, and fatigue are part of hypermobility EDS. In this conversation, Dr. Taylor Kerrins discusses Ehlers-Danlos Syndrome (EDS), particularly hypermobile EDS, covering its definition, symptoms, diagnosis, and management strategies. He shares personal experiences with the condition, the challenges of obtaining a diagnosis, and the importance of physical therapy and exercise. The discussion also touches on genetic testing and available support resources for patients. Taylor emphasizes the need for ongoing research and understanding of EDS, highlighting the complexities of the condition and the importance of community support.   Key Takeaways: EDS is a connective tissue disease with various types. Joint dislocations are common in individuals with hypermobile EDS. There is no specific genetic test for hypermobile EDS. Exercise is extremely helpful but must be tailored to the individual.. Support groups provide valuable resources and community for EDS patients. Ongoing research is essential for understanding EDS better.   Dr. Taylor Kerrins is a Clinical Assistant Professor of Medical Genetics & Genomics at the Medical University of South Carolina.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: The Ehlers Danlos Society Information on hEDS from the Marfan Society American Academy of Family Physicians handout from 2021 The Norris Lab at MUSC   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.  

Pediatric cancer and genetic testing. In this conversation, Sarah Scollon discusses the complexities of childhood cancer, particularly the genetic factors that may contribute to its development. She explains the differences between tumor and germline testing, the importance of identifying children at risk for hereditary cancer syndromes, and the evolving guidelines for genetic testing in pediatric oncology. The discussion also touches on the psychosocial aspects of genetic counseling, informed consent, and the implications of genetic testing for families. Sarah emphasizes the need for ongoing research and the importance of communication with families about genetic risks and testing options.   Key Takeaways: About 8 to 18 percent of kids with cancer have genetic mutations. Tumor testing focuses on mutations in the tumor itself. Germline testing looks at inherited genetic changes. Genetic testing can lead to tailored surveillance plans. Informed consent is crucial in genetic testing discussions. Cascade testing can benefit family members of affected children. The landscape of genetic testing is rapidly evolving. Access to care and psychosocial support are vital for families. Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine (BCM) and lead genetic counselor for the Texas Children’s Cancer and Genomics Program. She has served in dual clinical and research roles across the course of her career. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for the incorporation of genetic counseling into pediatric cancer care. She works to educate others on the role genomics and precision oncology can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint. Her research interests engage the overarching themes of (1) pediatric cancer predisposition and precision oncology (2) optimization of patient-provider communication and education and (3) adaptation of genetic counseling practice for implementation of evolving technologies for care of pediatric cancer patients. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Sarah Scollon’s Contact Info and Published Papers Findageneticcounselor.org to search for a genetic counselor near you Pediatric Oncology Series- includes recommendations American Association for Cancer Research- Childhood Cancer Awareness page   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Navigating child heart failure and mitochondrial disease. Dr. Heather Gatcombe shares her personal journey as a physician and mother navigating the complexities of mitochondrial disease and heart failure in her son. She discusses the challenges of diagnosis, the emotional toll of medical crises, and the journey through heart transplant. Dr. Gatcombe emphasizes the importance of understanding mitochondrial disease, the role of advocacy, and the potential future of mitochondrial medicine, including the impact of new treatments and the need for continued support and awareness.   Key Takeaways: Mitochondrial disease can be difficult to diagnose due to its varied presentation. Heart failure in children can arise from mitochondrial dysfunction. Transplantation is a complex process that requires a multidisciplinary approach. Post-transplant care involves managing potential complications and medication side effects. Advocacy is crucial for rare diseases to ensure access to necessary treatments. New medications can significantly improve the quality of life for patients with mitochondrial disease. And one of these medications is at risk of being discontinued meaning more people going back on the heart transplant list.   Dr. Heather Gatcombe is the mother of a child with mitochondrial disease and is on the Board of Trustees of the United Mitochondrial Disease Foundation and the Board of Directors of Enduring Hearts. She is an assistant professor at Emory University School of Medicine. The views expressed here are her own and do not represent those of Emory University. https://www.linkedin.com/in/heather-gatcombe-md-3891875/ https://www.instagram.com/heathergatcombe/   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Join the fight for Elamipretide and ask FDA to approve now! United Mitochondrial Disease Foundation Mito Action- a patient advocacy group MitoCanada Mito Foundation in Australia Transplant Families- resources and support for families navigating pediatric transplantation Enduring Hearts   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.  

Neurodiversity advocacy and a genetic condition associated with autism. In this conversation, Jacalyn Lee shares her journey into advocacy, driven by her experiences as a mother of a child diagnosed with DEAF1 Associated Neurodevelopmental Disorder (DAND). She discusses the emotional complexities of receiving a diagnosis, the importance of community support, and the establishment of the DAND Alliance to raise awareness and promote research. Jacalyn emphasizes the critical role of genetic testing in understanding neurodevelopmental disorders and offers resources for families navigating similar challenges. The conversation concludes with key takeaways on advocacy, awareness, and the importance of checking in on friends in the neurodivergent community.   Key Takeaways: The journey of receiving a diagnosis involves complex grief. Community support is vital for families with children who are neurodivergent  The DAND Alliance aims to raise awareness and promote research. Awareness and education can change lives for families. Trusting your instincts can be important in advocating for your child.   Jacalyn Lee is a neurodiversity advocate, drawing from her personal journey as a mother to a child with an ultra-rare genetic condition called DEAF1 Associated Neurodevelopmental Disorder (DAND). After her daughter’s DAND diagnosis, Lee became credentialed as a Non-Attorney Special Education Advocate and launched The Atypical Advocate, a Substack newsletter that shares the complexities—and joys!—of raising a neurodivergent child with complex medical needs. Lee currently leads efforts to advance awareness and critical scientific research for DAND through The DAND Alliance, the nonprofit she founded.   Lee believes in the power of storytelling to drive awareness, inclusion, and systemic change. It is through her writing that Lee aims to provide practical resources, community, and emotional support for parents, while fostering greater understanding and empathy for neurodivergent families and their atypical families.   As a speaker, Lee is frequently invited to share insights on creating neuro-affirming communities, speaking with children about autism, navigating the early days of a disability diagnosis, and more. From hospitals and universities to media outlets and The Atypical Advocate, she weaves personal experience with actionable guidance to help families feel less alone and more empowered.   In addition to her advocacy work, Lee has more than 20 years of experience in architecting communications strategy for iconic global and startup brands in the consumer tech, media, ecommerce, and wellness industries, including Equinox Media, The Knot, Care.com, and Gopuff. Her professional background has honed her ability to build meaningful connections and amplify important messages—skills she now channels into her mission to champion neurodiversity.   Jacalyn Lee lives in New York with her husband and three children. Learn More About DAND + Donate: www.thedandalliance.org Follow The DAND Alliance on Instagram: @thedandalliance Read The Atypical Advocate: theatypicaladvocate.substack.com Follow The Atypical Advocate on Instagram: @theatypicaladvocate   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: The Atypical Advocate, Jacalyn’s Substack The DAND Alliance Simons Searchlight Findageneticcounselor.org to search for a genetic counselor near you Episode 27- Is autism genetic?   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

How does genetics influence individual responses to medications and what is pharmacogenomics? Jeri explains the significance of pharmacogenomic testing in personalizing medication management, highlighting its potential to improve patient outcomes and reduce adverse effects. Through real patient stories, the discussion emphasizes the importance of genetic information in prescribing practices and the challenges faced in integrating pharmacogenomics into routine healthcare. We talk about how pharmacogenomics can help in prescribing medications for pain, depression, and acid reflux as well as other conditions.   Key Takeaways: Pharmacogenomics is the study of how genetics affect medication response. Genetic testing can lead to more effective and safer medication prescriptions. Genetic information can help avoid severe side effects from medications. Pharmacogenomic testing can reduce the trial-and-error approach in medication management. Pharmacogenomics has the potential to save lives and healthcare costs. The future of pharmacogenomics looks promising but faces integration challenges.   As a pharmacogenomics expert, Jeri Nichols blends over two decades of experience as a pharmacist and genetic counselor to revolutionize personalized medicine. Jeri founded GenePharmer, LLC in 2021, a consulting practice that empowers patients with safer, more effective medication regimens, and often reduces reliance on unnecessary drugs. Throughout her career, her individualized approach, rooted in listening to patients and leveraging genetic insights, has improved countless lives across private practices, medical centers, genetics labs, and community pharmacies. A passionate educator, Jeri advances PGx through lectures for students and presentations at professional healthcare meetings. Jeri invites patients and providers to explore PGx at genepharmer.com, where she is cultivating better health, one genome at a time. You can also connect with GenePharmer on LinkedIn or Facebook. genepharmer.com facebook.com/GenePharmerLLC linkedin.com/company/genepharmer-llc   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you CPIC guidelines Episode 16, Cancer & Chemo: Could DPYD testing save lives? Jeri’s company, GenePharmer, LLC   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

It is a podcast crossover with It Happened to Me: A Rare Disease & Medical Challenges Podcast! It Happened to Me is also part of the Gene Pool Media Network In this podcast, patient advocates Cathy Gildenhorn and Beth Glassman share their medical challenges living with rare diseases and are joined by fellow advocates and experts on the show.   For this episode, Beth Glassman interviews her co-host Cathy Gildenhorn about her rare disease, Wolfram Syndrome.  Co-host Cathy Zacks Gildenhorn has devoted much of her life to improving the lives of others and connecting women to Jewish life and each other. She has served on several local, national and international boards. Cathy also served as presidential appointee to the United States Holocaust Memorial Council and worked on the opening of the museum. Currently, Cathy serves as editor in chief and designated spokesperson for the book, Redefining Moments: End of Life Stories for Better Living. Several years ago Cathy was diagnosed with a rare, genetic disease. Since then she has passionately dedicated her life to creating this supportive and inspiring podcast so that all in the medically challenged community know…You are Not Alone.    On This Episode We Discuss: Defining Wolfram Syndrome Frequency of Wolfram Syndrome Cathy’s Diagnostic Odyssey  Symptoms of Wolfram Syndrome Current Wolfram Syndrome Treatments Research for Wolfram Syndrome  Cathy’s prognosis  Processing diagnosis CRISPR potential treatment  You can find other episodes of It Happened To Me! on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.  It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today’s Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer.    About All Access DNA Podcast Any inquiries on the podcast can be sent to [email protected] Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley. 

Exploring Hereditary Cancer and the Making of "Love, Danielle". In this conversation, Devon Sidell and Amy Byer Shaneman discuss their new film, 'Love, Danielle' which explores the emotional and physical challenges faced by individuals with BRCA gene mutations. They share their personal stories, the impact of preventative surgeries, and the importance of genetic testing. The film aims to raise awareness and provide support for those navigating hereditary cancer risks, while also addressing family dynamics and the emotional weight of such decisions. The discussion highlights the need for better resources and education surrounding genetic testing and cancer prevention.   Key Takeaways: The film, Love, Danielle, portrays the emotional and physical challenges of previvors. Post-surgery realities include ongoing medical check-ups and hormone changes The film aims to entertain while educating about BRCA mutations. Family dynamics play an important role in the decision-making process. Genetic testing can be life-changing for families at risk. Healthcare providers need to communicate sensitively about genetic results. Love, Danielle is a pioneering narrative on hereditary cancer.   ABOUT DEVIN SIDELL (Instagram: @devin.sidell) In 2017, after receiving a positive BRCA 1 gene mutation diagnosis, actress and activist Devin Sidell decided to undergo a preventative double mastectomy and preventative hysterectomy/oophorectomy earning her the label of “previvor,” someone who has a predisposition to developing cancer but has not yet been diagnosed. Sidell, is BRCA-1 positive and underwent a preventative oophorectomy/hysterectomy in November 2016 while her older sister was undergoing chemotherapy for Triple-Negative, Stage 2B breast cancer. Sidell’s mother survived Stage 3C ovarian cancer in 1994 as well as breast cancer in 2012. Her mother’s sister passed away from ovarian cancer in 1996. In December 2017, Sidell opted to undergo a preventative double-mastectomy. Since her diagnosis, Devin has become a spokesperson for women taking fate into their own hands and encouraging them to partake in genetic testing. She is also a co-writer, star and executive producer of the first scripted feature film about the decisions an individual who carries the BRCA gene mutation must face.   ABOUT AMY BYER SHAINMAN (Instagram: @brcaresponder) Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. She is the executive producer of the award-winning documentary Pink & Blue: Colors of Hereditary Cancer and the new feature film about the decisions one has to face when diagnosis with BRCA gene mutation, Love Danielle. Shainman is a BRCA1 gene mutation carrier and "previvor. In 2010, she had two prophylactic surgeries to reduce her cancer risk drastically: a nipple-sparing, skin-sparing mastectomy with reconstruction and oophorectomy with a hysterectomy. Cure Magazine, The Jewish Journal, and The Palm Beach Post have featured Shainman's story. She has also appeared on numerous live and taped television and radio segments nationwide. As a digital ambassador for the National Society of Genetic Counselors gene pool, Shainman is considered one of fifteen influencers who have unique perspectives and knowledge in the fields of genetics and genetic counseling. She is an administrator for the largest female-only BRCA support group on social media. Shainman has published articles in The American Journal of Managed Care, Jupiter Magazine, and Oncology Nursing News. Shainman's medical memoir Resurrection Lily: The BRCA Gene, Hereditary Cancer & Lifesaving Whispers from the Grandmother I Never Knew has won over a dozen literary awards and was the December 2020 book club selection of The National Library of Medicine ABOUT LOVE, DANIELLE (Instagram: @lovedanielle.film) When Danielle, a happily married thirty-something, tests positive for a BRCA1 gene mutation, she learns that this puts her at a very high risk of developing breast and ovarian cancer. Her older sister Amy is already undergoing chemotherapy for a breast cancer diagnosis. Danielle now contemplates preemptively removing her "ticking time bomb" breasts and reproductive organs before cancer gets her, too. Her decision-making process involves flashbacks of her childhood with absent parents, bizarre anesthesia-induced dreams, and toxic confrontations with her recovering alcoholic mother and self-absorbed 70's TV Western star father. Ultimately, Danielle must figure out how to prioritize her health and well-being by putting herself first.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Love, Danielle website and trailer Devin Sidell’s website Resurrection Lily by Amy Byer Shainman Facing Our Risk of Cancer Empowered- a nonprofit for individuals facing hereditary cancer The Lynne Cohen Foundation for women facing increased risk of breast and ovarian cancers His Breast Cancer Awareness- male breast cancer support organization Bright Pink Male Awareness Foundation Findageneticcounselor.org to search for a genetic counselor near you   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Considerations in genetic testing and IVF. In this conversation, Natalie Richeimer discusses the intricacies of pre-implantation genetic testing (PGT) as part of in vitro fertilization (IVF). She explains the different types of PGT, its accuracy, limitations, and the ethical considerations surrounding genetic testing. The financial burden of IVF and PGT is also addressed, highlighting the lack of insurance coverage and the high costs involved. Richeimer emphasizes the importance of genetic counseling in navigating these complex decisions and shares her personal experiences with IVF, underscoring the emotional impact on patients. The conversation concludes with a call to action for patients to seek genetic counseling and resources available through organizations like JScreen.   Key Takeaways: PGT is part of the IVF process PGT is a screening test, not a diagnostic test The accuracy of PGT results can vary Genetic counseling is available for patients undergoing IVF Ethical considerations are complex Patients often face emotional and financial challenges during IVF and PGT   Natalie Richeimer, MS, CGC, is a board certified genetic counselor at jscreen with clinical experience in adult, pediatric, and reproductive genetic counseling. She holds a master's degree in human genetics and genetic counseling from the Keck Graduate Institute. Natalie is a native Torontonian, who lives in Los Angeles with her husband and two boys. She has published research in the Journal of Genetic Counseling on the impact of orthodox Jewish clergy’s role in prenatal genetic counseling. Prior to her work as a genetic counselor, Natalie worked as a high school STEM teacher for 7 years in Los Angeles. She is passionate about reproductive health education and community engagement. Natalie has a special interest in outreach, with the goal of increasing awareness of and access to genetic counseling. Natalie has partnered with local organizations and high schools to provide community education.   Please subscribe to this podcast on Apple Podcasts, Spotify, or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com. Don’t forget to rate us as that helps more people, like you, find the show!   Here are more resources related to today’s topic: Find a Genetic Counselor American Society for Reproductive Medicine or ASRM American College of Obstetricians and Gynecologists (ACOG) Committee Opinion on Pre-implantation Genetic Testing Episode 20- How does music tell the story of genetic hearing loss? With Matt Hay Episode 5- Do I need prenatal genetic screening? With Blair Stevens   Any questions, episode ideas, guest pitches, or comments can be sent to [email protected]   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.    Thanks for listening! And join us next time!.

Hey hey DNA! We are celebrating our first season by being nominated for the Podcast Awards! Please help us win the title as Best Health Podcast. Just head over to podcastawards.com and click the blue button that says “Signup to Vote Now” and fill out your info. Then a CRUCIAL step is to check off the box that says “Please consider me as one of the listeners that will be randomly selected to vote on the final slate in August”. This means you, our listener, will get to vote in the final round of voting! Once you fill out this info, you will be taken directly to the nominations page. Scroll down to the “Heath” category and select All Access DNA. Then hit save nominations at the bottom of the page. You will have an email asking you to confirm your email address to try to reduce bot votes. So please confirm and that’s it! I am so thankful for everyone who has listened and checked out the All Access DNA podcast. We are a very small and independent podcast so it means the world to me that you take the time and vote for us in the People’s Choice podcast awards. Additionally, we are on a break for July so we can gear up for August with new episodes, new updates, and new experts in genetic medicine. Stay subscribed so you don’t miss the next season. And take a moment to go to podcastawards.com , fill out your info and select All Access DNA in the Health category. It just takes 30 seconds! And thank you, thank you for listening!

In this conversation, Dr. Chaya Murali discusses the importance of understanding autism, the role of genetic testing, and the impact of misinformation surrounding vaccines and autism. She emphasizes the need for families to seek reliable resources and support while navigating the complexities of neurodivergence. The conversation also highlights the emotional aspects of parenting children with autism and the importance of empathy in medical practice.   Key Takeaways: Many genetic conditions can co-occur with autism, highlighting the need for genetic evaluations. Autism is partially genetic, but environmental factors also play a role. Current genetic testing can identify a known genetic cause in about 30% of autism cases. The rise in autism diagnoses may be due to better awareness and changes in diagnostic criteria. Boys are diagnosed with autism more frequently than girls, but this may change as awareness grows. Genetic testing for autism is not predictive or diagnostic. Misinformation about vaccines continues to circulate despite evidence showing that vaccines do not cause autism   Dr. Chaya Murali is a pediatric geneticist and personal essayist in Houston, TX. Her clinical focus includes general genetics and skeletal dysplasias, and her research focus includes quality of life and lived experiences among people with rare disease and their families. She has cultivated a special interest in science communication, particularly around the genetics of autism in particular and human genetics in general. Dr. Murali's personal essays can be found at www.chayanautiyalmurali.com, and she can be found occasionally Instagramming @AkkasHouse   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: “Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions” by Chaya Murali, Susan D Fernbach, Lorraine Potocki SPARK for Autism Research Autism Foundation Autistic Self Advocacy Network (ASAN) The Color of Autism Foundation   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.

In this conversation, Kim Zayhowski discusses the distinctions between sex and gender, emphasizing that sex is biological while gender is a social construct. She explores the complexities of chromosomes, the fluidity of gender identity, and the implications of societal norms on individual expression. The discussion also touches on the weaponization of scientific terminology in policy-making, the intersection of transphobia and misogyny, and the importance of recognizing diverse gender identities. Zayhowski advocates for active allyship and resistance against discriminatory policies, highlighting the importance of empathy and understanding in fostering a more inclusive society.   Key Takeaways: Sex and gender are not interchangeable terms. Biological sex is complex and not binary. Gender identity is shaped by culture and personal experience. Cisgender individuals have a gender identity that matches their assigned sex at birth. Scientific misconceptions can be weaponized in policy-making. Transphobia is often rooted in misogynistic beliefs. Healthcare policies must respect bodily autonomy for all individuals. Inclusive language is essential in healthcare discussions.   Kim Zayhowski is a genetic counselor, researcher, and assistant professor at Boston University Chobanian & Avedisian School of Medicine. She earned her Master’s in Human Genetics and Genetic Counseling from Stanford University School of Medicine. Her research focuses on the intersection of LGBTQIA+ care and genetics.   Please subscribe to this podcast on Apple Podcasts, Spotify, Amazon Music, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic: Episode 22 with Kaitlyn Brown- What are sex trait variations and how do we support intersex individuals? Tested podcast about sex testing in elite sports from NPR Book, Sex Itself by Sarah S Richardson Bridging the gap: Time to integrate sex and gender differences into research and clinical practice for improved health outcomes by Roberta Gualtierotti     Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.   

In this conversation, Eric Green discusses the role of the National Human Genome Research Institute (NHGRI) in leading the Human Genome Project and advancing genomic research. He shares his journey at NHGRI, highlighting the significant progress made in genomic medicine, including the All of Us Research Program, which aims to collect genomic and health data from a diverse population. Dr. Green emphasizes the importance of public sector involvement in data sharing and the challenges faced in genomic research. He also addresses the potential impact of funding cuts on future research initiatives. Dr. Green discusses the importance of public advocacy for genomics research and the need for a more equitable approach to genomic medicine. We  highlight the growing relevance of genomics in healthcare and the necessity for better public understanding and communication of genomic information.   Key Takeaways: The NHGRI was established to lead the Human Genome Project. Genomic information can improve disease diagnosis and treatment. The cost of sequencing a human genome has drastically decreased. The All of Us Research Program aims to collect genomic and health data from a million participants. Public sector involvement is crucial for data sharing in genomics. Funding cuts to NIH could severely impact genomic research initiatives. There is a risk of losing a generation of young scientists due to current policies. Healthcare professionals need to be equipped to discuss genomics with patients. The future of genomic medicine depends on continued research and public engagement.   Dr. Eric Green is a genomics researcher, Human Genome Project participant, and former Director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). He was the third NHGRI Director, having been appointed by NIH Director Dr. Francis Collins in 2009. He served as NHGRI Director from 2009 to 2025. Dr. Green was at NHGRI for over 30 years, during which he was appointed to multiple key leadership positions prior to becoming the NHGRI Director. This included serving as the NHGRI Scientific Director for 7 years, Chief of the NHGRI Genome Technology Branch for 13 years, and Founding Director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project, groundbreaking work on mapping, sequencing, and comparing mammalian genomes, and key discoveries about the genes involved in several rare genetic diseases. Dr. Green earned his M.D. and Ph.D. degrees in 1987 from Washington University in St. Louis; coincidentally, the word “genomics” was coined in that same year. Throughout his career, he has authored and co-authored over 395 scientific publications. Dr. Green has earned multiple honors and awards, including election to the National Academy of Medicine in 2023. Following his greater than 30 years of public service as a federal employee at NHGRI and NIH, Dr. Green is now using his extensive experience in leading government-funded research programs to foster the expansion of genomics in academia, healthcare, and everyday life.   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Here are more resources related to today’s topic: National Human Genome Research Institute (NHGRI) National Institutes of Health (NIH) All of Us Research Program The Human Genome Project by Francis Collins and Leslie Fink Science impacts from recent limitation efforts from current administration: Do you remember the Human Genome Project? I’m not sure the Trump administration wants you to Trump’s proposed budget would mean ‘disastrous’ cuts to science Scientific Research is Getting Cut—and That Should Scare All Americans Cuts to science agencies undermine hope for American health and economies from the American Society for Biochemistry and Molecular Biology PBS News Hour- Scientists sound the alarm on Trump administration’s dismantling of research funding Ways to make your voice heard on saving science and genomics Contact your representative Share your support for science on social media, engage in conversations with friends and family, and participate in local town halls Advocate for individuals who support science and evidence-based decision-making in federal agencies The Bethesda Declaration:  A Call for NIH and HHS Leadership to Deliver on Promises of Academic Freedom and Scientific Excellence   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Dr. Shelley Sella discusses her book “Beyond Limits: Stories of Third-Trimester Abortion Care” and her experiences in providing third trimester abortion care. She emphasizes the importance of understanding the circumstances that lead individuals to seek such care, the emotional and psychological aspects involved, and the need for compassionate support. The discussion also touches on the legal implications surrounding abortion, the safety of the procedures, and the necessity for empathy and understanding in the healthcare system. Key Takeaways: Third-trimester abortion care is often stigmatized and misunderstood. The emotional and spiritual aspects of care are integral to the process. Legal restrictions are increasing, making access to care more difficult. Support systems are crucial for patients undergoing these procedures. Abortion is far safer than continuing a pregnancy in many cases due to the high maternal mortality rate in the United States The stories of patients can help demystify and destigmatize the procedure.   Dr. Shelley Sella is a retired Board Certified Ob-Gyn and the first woman to openly provide third trimester abortion care in the United States. For 20 years Dr. Shelley Sella – an OB-GYN and the first woman to openly provide third-trimester abortion care in the United States – saw patients whose diverse backgrounds and circumstances led them to the same difficult decision: to end their pregnancies. Now, in her beautifully written and compassionate first book BEYOND LIMITS: Stories of Third-Trimester Abortion Care (June 3, 2025; Beacon Press; $27.95), Dr. Sella shares deeply intimate, profoundly human stories of this widely misunderstood experience. Combining candid memoir with expert account, Sella interweaves her patients’ stories with her own personal and professional journey (including her mentorship under Dr. George Tiller) to reveal why she dedicated her life to this work. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic:. Purchase book at bookstore.org Remembering Dr. George Tiller Los Angeles Times piece from 2015 on Dr. Susan Robinson Information on midwifery from WHO Overturning of Roe v Wade from NPR Southwestern Women’s Options Website to share stories about abortion from the National Abortion Federation Article on the high maternal mortality rate in US The Turnaway Study that describes the mental health, physical health, and socioeconomic consequences of receiving an abortion compared to carrying an unwanted pregnancy to term Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

This is a replay of our bonus episode that was released on March 28, 2025 and prior to Regeneron Pharmaceuticals purchasing 23andMe. Regeneron entered the asset purchase agreement on May 19, 2025 and states it plans to maintain the consumer genetics business. Regeneron also stated it would prioritize the privacy, security and ethical use of 23andMe's customer data. See more about the announcement here. In this episode, we explore the complexities of genetic data privacy, particularly in light of 23andMe's recent bankruptcy filing. Anya Prince discusses the implications for customer data, the legal protections in place, and the unique risks associated with genetic information. The discussion also covers the challenges of data de-identification, customer rights regarding data deletion, and the potential for data breaches. The conversation concludes with reflections on the global landscape of genetic data privacy and the importance of understanding personal values in relation to data sharing.   Key Takeaways: 23andMe's bankruptcy raises concerns about customer data. New ownership of 23andMe or its data could change how genetic data is used. Security breaches pose significant risks to genetic data. Global laws on data privacy vary significantly. Understanding personal values is crucial in data sharing decisions.   Anya Prince, Professor of Law, Joseph F. Rosenfield Fellow in Law Professor Prince’s teaching and research interests explore health and genetic privacy, with a particular focus on genetic discrimination, the health privacy implications of big data, and the ethical, legal, and social implications of genomic testing. Her research particularly explores the intersections of social and biological data by interrogating the ethical and legal implications of how genetic data can be used to predict social traits and behaviors and, conversely, how social data can be used to predict medical information, including reproductive information. Her interdisciplinary work has been published in legal, bioethics, and medical journals, including the Boston College Law Review, North Carolina Law Review, Iowa Law Review, JAMA, the American Journal of Bioethics, Journal of Law, Medicine, and Ethics, and Genetics in Medicine.   In 2022, she was awarded a four-year R01 grant from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) to study the ethical, legal, and social implications of sociogenomic polygenic scores. In 2023, she was awarded a Bridging Bioethics, Research & Policymaking grant from the Greenwall Foundation to develop resources regarding state-level genetic privacy legislation. In addition to these grants, Professor Prince is an investigator, consultant, or advisory board member on multiple other NIH-funded projects. She had previously been awarded a Pathway to Independence Award (K99/R00) from NHGRI to examine the use of genetic information by life, long-term care, and disability insurers.   Professor Prince is a former Visiting Assistant Professor of Law at Indiana University’s Robert H. McKinney School of Law, where she taught Employment Law and Genetics and the Law. Before joining the legal academy, she served as a Post-doctoral Research Fellow at the UNC Center for Genomics and Society (CGS) in the Department of Social Medicine at UNC-Chapel Hill School of Medicine. Professor Prince has also worked as a Skadden Fellow and Staff Attorney at the Cancer Legal Resource Center in Los Angeles, California.   You can follow her @anyaprince.bsky.social   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.   Here are more resources related to today’s topic: Press Release from 23andMe about Voluntary Chapter 11 Initiation 23andMe Privacy Information California Attorney General Consumer Alert 23andMe HIPAA Information from US Department of Health and Human Services SNP genotyping: technologies and biomedical applications Article from Slate on GEDMatch being Acquired by Verogen Article from BBC News on 23andMe Profiles Being Hacked What is GDPR from gdpr.edu   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.   

In this conversation, we delve into the complexities surrounding intersex and transgender identities, focusing on medical ethics and the importance of patient autonomy. Our guest, Kaitlyn Brown, discusses their advocacy for the intersex community, emphasizing the importance of trauma-informed care in healthcare settings. We talk about the differences between intersex and transgender identities, the prevalence of intersex conditions, and the challenges faced by parents of intersex children. The discussion highlights the complexity of genetic definitions and the need for better understanding and support within the healthcare system. It highlights the ongoing legislative challenges that threaten the rights and healthcare access of these communities, while also emphasizing the need for advocacy and allyship. Key Takeaways: Intersex conditions encompass a wide range of biological variations. Parents need support in navigating intersex diagnoses. Genetic definitions of intersex are complex and varied. Healthcare providers must approach intersex care with sensitivity. Surgical interventions for intersex individuals are controversial and complex. Patient autonomy is crucial in medical decisions regarding gender assignment. Legislation is increasingly targeting transgender and intersex communities. Inclusive conversations about sex and gender are essential in healthcare. Cisgender individuals can use their privilege to advocate for intersex and transgender rights.   Kaitlyn Brown is a certified genetic counselor from New Zealand who is endosex and identifies as a genderqueer femme, assigned female at birth. Currently a laboratory genetic counselor specializing in cell-free DNA prenatal screening, Kaitlyn has been an active advocate for the intersex community/ people with differences of sexual development and assisted in care management as a former pediatric genetic counselor and researcher. They have been involved with passing government initiatives to legislate awareness and understanding of differences of sex development for healthcare professionals and others who care for this community. Given the history of harmful practices performed on intersex and gender diverse people, Kaitlyn uses a trauma-informed lens to educate about sex development and incorporate both sex- and gender- diverse experiences and needs. They can be found on Bluesky as geneticsbtb.bsky.social   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Here are more resources related to today’s topic, genetic counselors. InterACT- Advocates for Intersex Youth Sambia culture of Papua New Guinea and “turnim-man” Trauma Informed Care Intersex Justice Project Strategy Lab for Intersex Movements (SLIM) InterConnect Support Tested podcast about sex testing in elite sports from NPR Book, Sex Itself by Sarah S Richardson   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

We are featuring an episode from another podcast on Gene Pool Media, DNA Today. True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wrongful convictions. Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute.  After reading his book Genetic Reconstruction of the Past, I had countless questions about how PCR reshaped the justice system, its impact on exonerations, and the ethical implications of forensic DNA databases. Trigger Warning: This episode contains discussions of murder and sexual assault, which may not be suitable for young listeners.   Key Takeaways: The development of PCR technology and its revolutionary impact on forensic genetics How PCR outperformed older methods like RFLP in criminal case investigations Pennsylvania vs. Pestinikas (1986), the first criminal case using DNA analysis Key forensic DNA terms explained: inclusion, match, exclusion, and random match probability The role of DNA evidence in exonerations and wrongful convictions How forensic labs analyze DNA from multiple individuals at crime scenes The establishment of the FBI’s National DNA Index System (NDIS) and who is included The ethical concerns surrounding partial DNA matches and familial searching How public DNA databases like GEDmatch helped identify the Golden State Killer Dr. Erlich’s insights into the O.J. Simpson case and its impact on public perception of forensic DNA Resources and Links: Read Genetic Reconstruction of the Past by Dr. Henry Erlich Explore the National DNA Index System (NDIS) and CODIS The Innocence Project: Fighting wrongful convictions with DNA evidence GEDmatch and its role in forensic investigations Please subscribe to All Access DNA and DNA Today on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.

In this episode, Kate talks to Matt Hay about is book, “Soundtrack of Silence”. Matt opens up about his experience with neurofibromatosis type 2 (NF2), a genetic condition that led to profound hearing loss- and ultimately, the creation of his memoir, “Soundtrack of Silence: Love, Loss, and a Playlist for Life”. We explore his and his wife’s journey with IVF and preimplantation genetic testing, how they faced life-changing diagnoses together, and why his wife is the true hero of his story. Matt tells us how music shaped his life and how he continues to connect with it after hearing loss, the emotional impact of NF2, and the one song that defines his life today. Matt Hay (IU MS’99, MBA’09, DrPH’26) has a long journey toward deafness and even longer journey toward learning to “hear” again with an experimental brainstem implant. Now an global in-demand keynote speaker, he first publicly shared his story on a National Public Radio (NPR) podcast titled Soundtrack of Silence. The intimate, funny and authentic peek at what it’s like to start a career, fall in love and build a life while battling a rare disease inspired actor Channing Tatum and Paramount Pictures to option the motion picture rights to Matt’s life story. Matt’s memoir Soundtrack of Silence was released in 2024 by St. Martin’s Press, an imprint of Macmillan. Publishers Weekly said Hay’s “moving memoir makes magic out of facing the music” and it immediately earned a spot as an Amazon Best Seller within the Disability Category. When Matt isn’t adding tracks to the soundtrack of his life, he passionately supports the hearing loss community as a member of the Columbia University Genetic Counseling Advisory Board and previously as a consultant to the St. Joseph Institute for the Deaf. He proudly served as a Congressional lobbyist for neurofibromatosis (NF) research funding, the genetic disorder that caused his hearing loss, and has raised money for NF research by doing endurance events, including an Ironman Triathlon and the Boston Marathon. He didn’t win either one. Matt currently serves the rare disease community as the US Director of Advocacy for a global biopharmaceutical company and is a doctoral candidate at the Indiana University School of Public Health with a focus on global health leadership. He lives in Westfield, Indiana, with his wife (whom he’s quick to point out is the hero of his story) and three children. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you But Matt’s book on Bookshop.org HERE Info on NF2 from National Organization for Rare Disorders American Society for Reproductive Medicine   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Barry Tong discusses the complexities of cancer genetics, emphasizing the intersection of genetic factors and public health. He explains how cancer arises from both genetic predispositions and environmental influences, and the importance of personalized risk assessments. The discussion also highlights the role of family history in cancer risk, and the challenges faced by patients navigating a cancer diagnosis, and the need for accessible genetic services in underserved communities.  Key Takeaways: Public health aspects are crucial in understanding cancer. Misconceptions about cancer origins can hinder patient understanding. Personalized risk assessments are essential for effective cancer prevention. Polygenic risk scores are emerging tools for assessing cancer risk. Access to genetic services is crucial for underserved populations. Barry Tong is a currently a genetic counselor supervisor at the UCSF Health Cancer Genetics and Prevention Program. Previously, Barry held several medical affairs and sales roles at Myriad Genetic Laboratories, and is a graduate of the University of Michigan Genetic Counseling and Public Health dual degree program. He is passionate about equitable access to genetics services, genetic counselor education and mentoring, and ensuring diverse and equitable entry into the genetic counseling profession. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and support our independent podcast to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: What is a polygenic risk score? From National Human Genome Research Institute Wisdom study with the goal to change the way breast cancer is detected and risk is reduced Find A Genetic Counselor from NSGC.org Multifactorial and Complex Disorders Episode 14- Colon Cancer: What is Lynch syndrome? Episode 12- Who has surgery to prevent colon cancer? Episode 7- Are leukemia and lymphoma hereditary? Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Kevin Alexander shares his personal journey living with PKU (phenylketonuria) and his passion for newborn screening advocacy. He discusses the importance of dietary therapy, the challenges of navigating insurance coverage for treatment, and the critical role of newborn screening in early detection. We discuss the recent policy changes enacted without warning by the current administration and how that impacts newborn screening practices. Kevin shares personal stories and experiences that highlight the need for advocacy and community involvement in maintaining and improving the newborn screening system.  Key Takeaways: PKU is an inborn error of metabolism that requires lifelong dietary therapy. Newborn screening is crucial for early detection of PKU to prevent brain damage. Newborn screening includes a simple blood test to evaluate for various conditions. The recommended uniform screening panel (RUSP) guides which diseases are screened. Recent policy changes threaten the inclusion of new conditions in newborn screening. The newborn screening system is crucial for public health. Kevin Alexander is an adult living with PKU. He's also a filmmaker, and since 2012 has been traveling the world as a PKU, newborn screening, and rare disease advocate. He's a volunteer for the National PKU Alliance, an advocate with the Louisiana Metabolic Disorders Coalition, and a member of the International Society of Neonatal Screening. You can find him online at: IG: @kevinalexander_pku FB: www.facebook.com/pkujournal LinkedIn: www.linkedin.com/in/kevinalexander/   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and support our independent podcast to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: My PKU Life | A Short Film about My PKU Experience  Regaining Hope: My Journey to Rare Disease Advocacy | A Podcast Episode about the intersection of life, rare disease, and mental health Newborn Screening Is A Human Right | A blog article with Kevin’s thoughts on the termination of the Advisory Committee on Heritable Disorders in Newborns and Children The National PKU Alliance Baby’s First Test- information on newborn screening National Organization for Rare Disorders Original landing page for the Advisory Committee on Heritable Disorders in Newborns and Children The Recommended Uniform Screening Panel or RUSP Hunters Hope- non-profit for Krabbe and other leukodystrophies, as well as newborn screening starting by Jim and Jill Kelly For Katy: A Film About Newborn Screening For more information on rare disease, listen to episode 10- When is rare disease not so rare?  Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Priscila discusses Parkinson's disease, its genetic and environmental factors, and the role of genetic counseling. She highlights the PD Generation study, which aims to increase awareness and understanding of Parkinson's disease, particularly in diverse communities. Priscila emphasizes the need for inclusive research and the role of language access in genetic counseling, sharing her personal motivations for advocating for better access to care and information for all individuals affected by Parkinson's disease. Key Takeaways: Parkinson's disease is a neurodegenerative disorder affecting movement. The causes of Parkinson's are multifactorial, involving genetics and environment. Genetic testing can identify variants that increase the risk of Parkinson's. Everyone has a background risk for developing Parkinson's disease. Diversity in research helps understand genetic differences across populations. Language access in genetic counseling improves patient understanding and care. Community outreach is essential for increasing participation in research. Priscila D. Hodges joined Indiana University School of Medicine in May 2020. She earned her master’s degree in Genetic Counseling from Northwestern University in 2015 and has nearly a decade of experience in bilingual prenatal genetic counseling within multicultural settings. Currently, Hodges offers bilingual genetic counseling to participants in Parkinson’s disease research, ensuring culturally sensitive care. As a passionate advocate for outreach in the Hispanic/Latine community, she plays a vital role in expanding access to genetic services and increasing research participation, striving to bridge healthcare gaps and enhance representation for underserved populations within the Parkinson’s community. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Findageneticcounselor.org Breaking Barriers: Advancing Genetic Counseling for Parkinson’s in Latin America by Priscila D. Hodges Parkinson's Foundation The Michael J. Fox Foundation for Parkinson’s Research World Parkinson Coalition World Parkinson Congress 2026 Interview with Dr. Ignacio Mata about the Latin American Research consortium on the Genetics of Parkinson’s Disease (LARGE-PD) Information on PD GENEration research study  Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.

In this conversation, Naomi Wagner (she/her) discusses the intersection of ophthalmology and genetics, focusing on how genes influence eye development and diseases. She explains the complexity of inherited eye conditions, particularly retinitis pigmentosa, and the ongoing research in ocular genetics. The discussion also explores the inheritance of eye color and the importance of understanding vision impairment in society. Takeaways: Ophthalmologic or ocular genetics explores how genes affect eye health. Inherited conditions can be complex and multifactorial. Blindness and vision loss vary greatly among individuals. Eye color inheritance is influenced by multiple genes. Gene therapy shows promise for treating inherited eye conditions. Naomi Wagner is a licensed, board-certified genetic counselor specialized in ophthalmology and rare disease. She currently works as a clinical and research genetic counselor at UC San Diego Health, where she sees patients at both the Shiley Eye Institute and the Center for Bleeding and Clotting Disorders. Naomi is also owner and founder of Wagner Genomics, LLC, through which she does consulting work related to gene-based therapies and clinical trials. Naomi is an active member of several ClinGen groups, including the Retina Gene Curation Expert Panel and the ABCA4, RHO, and Maculopathy Variant Curation Expert Panels. She co-hosts the podcast DNA Dialogues, the official podcast of the Journal of Genetic Counseling. Naomi received her Master of Science from Boston University and her Bachelor of Arts from Pomona College. You can find her on socials under the handle @Naomi_CGC. Please subscribe to this podcast on Apple Podcasts, Spotify, or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Findageneticcounselor.org to search for a genetic counselor near you Hereditary Ocular Disease from Research to Prevent Blindness Retinitis Pigmentosa from American Academy of Ophthalmology Parts of the Eye and How We See   Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In today’s episode, Karen Merritt shares her personal journey of advocacy for DPD deficiency awareness following her mother's tragic experience with chemotherapy. The discussion delves into the importance of genetic testing for DPYD mutations before administering certain chemotherapy drugs, the challenges in raising awareness among healthcare professionals, and ongoing advocacy efforts to include DPYD testing in national guidelines. The conversation highlights the critical need for patient education and informed decision-making in cancer treatment as well as updates in guidelines to ensure patient safety. Takeaways: Karen Merritt became an advocate after her mother's death due to DPD deficiency. DPD deficiency can lead to severe toxicity from chemotherapy drugs like 5-FU. DPYD is the gene that produces the DPD enzyme, and mutations in DPYD can lead to DPD deficiency. About 3-8% of people have a DPYD mutation. There is a push for standardizing DPD/DPYD testing in the U.S. healthcare system. Knowledge about DPYD status can prevent severe drug toxicity. Karen Merritt is a passionate and dedicated patient advocate who turned her personal tragedy into a mission to save lives. After losing her mother in 2014 due to fatal toxicity from her first infusion of 5-FU chemotherapy, a result of not being tested for DPD (dihydropyrimidine dehydrogenase) deficiency beforehand, Karen committed herself to raising awareness about the importance of pretesting for DPD deficiency before the administration of fluoropyrimidine-based chemotherapy.  Karen is a founding member of Advocates for Universal DPD/DPYD Testing (AUDT), an organization focused on promoting mandatory pretesting to ensure patient safety and prevent chemotherapy-induced toxicities & fatalities. She actively engages with healthcare professionals and institutions to emphasize the need for personalized cancer care that includes pretreatment DPD testing.   In addition to her work with AUDT, Karen serves as a Patient Representative for ClinGen PGx Working Group and the Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Collaborative Community. Her role in these groups reflects her commitment to improving clinical practices and standardizing testing protocols for better patient outcomes. Non-profit website is www.test4dpd.org We are also on LinkedIn and Facebook as Advocates for Universal DPD/DPYD Testing. X and instagram: test4dpd   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Why Don’t U.S. Guidelines Recommend DPYD Testing Before Chemotherapy? By Ellen Matloff for Forbes Advocates for Universal DPD/DPYD Testing or AUDT Additional information on DPD Deficiency from MedlinePlus Safety announcement: FDA highlights importance of DPD deficiency discussions with patients prior to capecitabine or 5FU treatment Information on Mayo Clinic Lab DPYD Full Gene Sequencing Test Dr. Anil Kapoor’s death after 5-FU Oregon Health & Science University Lawsuit Fight Colorectal Cancer Cancer Care Sequences® Listen to Episode 10-When is rare disease not so rare? to learn more about genetic discrimination and GINA Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In today’s episode, we explore the complexities of genetic data privacy, particularly in light of 23andMe's recent bankruptcy filing. Anya Prince discusses the implications for customer data, the legal protections in place, and the unique risks associated with genetic information. The discussion also covers the challenges of data de-identification, customer rights regarding data deletion, and the potential for data breaches. The conversation concludes with reflections on the global landscape of genetic data privacy and the importance of understanding personal values in relation to data sharing. Key Takeaways: 23andMe's bankruptcy raises concerns about customer data. New ownership of 23andMe or its data could change how genetic data is used. Security breaches pose significant risks to genetic data. Global laws on data privacy vary significantly. Understanding personal values is crucial in data sharing decisions. Anya Prince, Professor of Law, Joseph F. Rosenfield Fellow in Law Professor Prince’s teaching and research interests explore health and genetic privacy, with a particular focus on genetic discrimination, the health privacy implications of big data, and the ethical, legal, and social implications of genomic testing. Her research particularly explores the intersections of social and biological data by interrogating the ethical and legal implications of how genetic data can be used to predict social traits and behaviors and, conversely, how social data can be used to predict medical information, including reproductive information. Her interdisciplinary work has been published in legal, bioethics, and medical journals, including the Boston College Law Review, North Carolina Law Review, Iowa Law Review, JAMA, the American Journal of Bioethics, Journal of Law, Medicine, and Ethics, and Genetics in Medicine. In 2022, she was awarded a four-year R01 grant from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) to study the ethical, legal, and social implications of sociogenomic polygenic scores. In 2023, she was awarded a Bridging Bioethics, Research & Policymaking grant from the Greenwall Foundation to develop resources regarding state-level genetic privacy legislation. In addition to these grants, Professor Prince is an investigator, consultant, or advisory board member on multiple other NIH-funded projects. She had previously been awarded a Pathway to Independence Award (K99/R00) from NHGRI to examine the use of genetic information by life, long-term care, and disability insurers. Professor Prince is a former Visiting Assistant Professor of Law at Indiana University’s Robert H. McKinney School of Law, where she taught Employment Law and Genetics and the Law. Before joining the legal academy, she served as a Post-doctoral Research Fellow at the UNC Center for Genomics and Society (CGS) in the Department of Social Medicine at UNC-Chapel Hill School of Medicine. Professor Prince has also worked as a Skadden Fellow and Staff Attorney at the Cancer Legal Resource Center in Los Angeles, California. You can follow her @anyaprince.bsky.social   Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com   Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.   Here are more resources related to today’s topic: Press Release from 23andMe about Voluntary Chapter 11 Initiation 23andMe Privacy Information California Attorney General Consumer Alert 23andMe HIPAA Information from US Department of Health and Human Services SNP genotyping: technologies and biomedical applications Article from Slate on GEDMatch being Acquired by Verogen Article from BBC News on 23andMe Profiles Being Hacked What is GDPR from gdpr.edu   Any inquiries on the podcast can be sent to [email protected]   Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.   The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this episode of All Access DNA, Dave Dubin discusses his foundation, Alive and Kick’n, which he started after being diagnosed with Lynch syndrome. He explains the importance of awareness and advocacy for Lynch syndrome, a hereditary condition that increases the risk of colon and other cancers. The discussion covers the differences between sporadic colon cancer and hereditary forms, the significance of genetic testing, and the personal journey of dealing with cancer at a young age. Dave emphasizes the need for proactive screening and the role of advocacy in improving awareness and support for those affected by Lynch syndrome. Dave shares his journey with Lynch syndrome, discussing the implications of genetic testing for himself and his family.  Key Takeaways: Dave Dubin’s foundation for Lynch syndrome is Alive and Kick’n Lynch syndrome increases the risk of multiple cancers, not just colon cancer Regular screenings are crucial for early detection of colon cancer Genetic testing can identify hereditary cancer risks Lynch syndrome is often underdiagnosed due to lack of awareness Dave Dubin is the co-founder of AliveandKick’n Lynch Syndrome Foundation. You can follow @Aliveandkickndd on Instagram and Bluesky. The views, opinions, and experiences expressed in this interview are Dave’s and not on behalf of his employer. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals.   Here are more resources related to today’s topic,. Episode 12- Who has surgery to prevent colon cancer? On familial adenomatous polyposis or FAP AliveandKick’n Website More information on Lynch syndrome from the American Cancer Society Colorectal cancer facts and statistics from Colorectal Cancer Alliance Microsatellite stability and Microsatellite instability from the Global Colon Cancer Association “New vaccine may help stop return of certain colorectal, pancreatic cancers” from Medical News Today Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Ellen Matloff, a certified genetic counselor and CEO of My Gene Counsel, discusses the implications of gene ownership and patents, particularly focusing on the BRCA gene patent case against Myriad Genetics. She shares her journey from being a cancer genetic counselor to becoming an individual plaintiff in the gene patent case. We discuss the challenges faced in the legal battle and the impact of the Supreme Court's decision in 2013. The discussion highlights the importance of access to genetic testing, the intersection of law and genetics, and the implications of gene patents for research and innovation in the field. Takeaways:  There is a need for experts who have a legal understanding in genetics. The BRCA gene patent impacted testing costs and test availability. Ellen faced significant pushback and resistance for her advocacy. The ACLU and Association of Molecular Pathology (AMP) played a crucial role in bringing the case to court. Research on BRCA genetics increased after the patent was overturned. Ellen’s persistence in advocacy was driven by patient needs. Ellen T. Matloff, MS, CGC is a certified genetic counselor and the CEO of My Gene Counsel, a digital health company that provides scalable, updating genetic counseling solutions for health systems, research studies, pharma and data partners. Wondering how to keep all of your past patients with + or VUS findings up to date? mGC is your answer. Matloff founded the Yale Cancer Genetic Counseling program, served as its director and a faculty member at Yale School of Medicine for 18 years, and was an individual plaintiff in the 2013 SCOTUS BRCA gene patent case. She serves as the Forbes.com contributor on genetic counseling, genetic testing, and digital health. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: AMP v. Myriad: The Fight to Take Back Our Genes from ACLU Direct to Confusion: Lessons Learned from Marketing BRCA Testing by Ellen Matloff and Arthur Caplan Current legislation on the Patent Eligibility Restoration Act or PERA, which could allow for gene patents to return Review on “The Genome Defense by Jorge L. Contreras” from FORCE *Update- Sam Raha will be the new CEO of Myriad Genetics starting in April 2025. Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this episode, Dan “Dry Dock” Shockley shares his journey with attenuated familial adenomatous polyposis (AFAP), a hereditary condition that increases the risk of colon cancer. He discusses the discovery of his condition, the importance of genetic counseling, and his proactive approach to managing his health. Dan emphasizes the importance of advocacy, education, and the need to destigmatize living with an ostomy. He talks about the role of humor and resilience in facing health challenges and highlights his commitment to educating medical professionals about rare diseases. His mantra, 'Always forge ahead with a purpose,' encapsulates his approach to life and advocacy. Takeaways: Attenuated FAP is a hereditary condition linked to colon cancer. Dan's military background has helped him adapt to his health challenges. Dan aims to educate future medical professionals about hereditary cancer. He advocates for silencing the stigma surrounding ostomy living. He encourages others to embrace their health journeys without shame. Dan is a retired Navy, Operation Desert Storm, Enduring and Iraqi Freedom veteran. He is a 13 year hereditary colon cancer syndrome WARRIOR. Dan was diagnosed with attenuated FAP, Variant c.2252.del, after his first and only colonoscopy at age of 51, and he was asymptomatic with no family history. Dan is a live-case presentation for the Stanford School of Medicine, Molecular Foundations of Medicine course and Stanford MS Program. He is also a virtual live-case presentation for the Harvard Medical School, Genomes2People Research Program and a patient advocate for the American Society of Clinical Pathology (ASCP). Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: United Ostomy Association of America, ostomy.org NIH page on Attenuated Familial Adenomatous Polyposis Information on the APC gene from FORCE Colorectal Cancer Alliance Findageneticcounselor.org Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this episode of All Access DNA, we talk to Samantha Stover, a reproductive genetic counselor, about prenatal diagnostic testing. We discuss Sam’s journey into genetic counseling, and the differences between screening and diagnostic testing methods such as chorionic villus sampling (CVS) and amniocentesis. The conversation also touches on the conditions that can be detected through these tests and the benefits, risks, and limitations of genetic testing. Sam emphasizes the importance of informed consent, patient autonomy, and the emotional challenges faced by patients. She discusses the variability in insurance coverage and the necessity of understanding each patient's unique situation.  Key Takeaways Advanced maternal age is defined as 35 years and older, but the risks are not as clear-cut as once thought. Screening tests provide probabilities, while diagnostic tests aim for definitive answers. CVS and amniocentesis are the primary methods for prenatal diagnostic testing. The accuracy of CVS and amniocentesis is high, but not 100%. Both tests have a risk for miscarriage, which can be less than 1% but is dependent on the clinic. The context of ultrasound findings is crucial in interpreting genetic test results. Patients have the ultimate choice regarding prenatal diagnostic testing. Diagnostic testing serves multiple purposes beyond termination decisions. Access to genetic testing can be inequitable for some patients. The psychosocial component of genetic counseling is vital. Samantha Stover is a Reproductive Genetic Counselor in the Division of Maternal Fetal Medicine and Assistant in Obstetrics and Gynecology at Vanderbilt University Medical Center. She has a Bachelor’s of Science in Zoology from North Carolina State University and a Master’s of Science in Genetic Counseling from The University of Alabama at Birmingham School of Health Professions. She received her board certification from the American Board of Genetic Counseling in 2014. Sam has over a decade's experience providing counseling for patients across the reproductive genetics arc, and strongly believes that reproductive autonomy is a core value of the field. As a female genetic counselor with narcolepsy and cataplexy, she lives the intersection of disability rights, genetics, and reproductive autonomy. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: Practice Bulletin on Prenatal Diagnostic Testing for Genetic Disorders from the American College of Obstetricians and Gynecologists Information on prenatal genetic diagnostic tests from the American College of Obstetricians and Gynecologists “Chromosomal Mosaicism: Origins and Clinical Implications in Preimplantation and Prenatal Diagnosis” by B Levy, E Hoffman, RC McCoy, & FR Grati, 2022. Prenatal Diagnosis. Episode 3 - Do I need prenatal genetic screening? Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. 

In this conversation, Susanna Smith shares her personal experience with CADASIL. The discussion explores the evolving definitions of rare diseases, the importance of accurate classification, and the implications for research and treatment. We cover how insights from rare diseases can inform our understanding of more common conditions. Susanna discusses the complexities of living as a 'previvor'—someone at risk for genetic conditions without symptoms. She explores the emotional and practical implications of genetic testing, the challenges of navigating healthcare and insurance, and the importance of patient advocacy. Susanna also shares insights from her podcast, 'Genetic Frontiers,' which delves into the multifaceted impact of genetic information on society. Key Takeaways CADASIL is an inherited genetic condition that is autosomal dominant, meaning if someone has CADASIL there is a 50% chance their child will have the condition Recent studies suggest CADASIL may be much more prevalent than previously thought. The classification of diseases as rare may not reflect their actual prevalence. Genomic studies can reveal underdiagnosed conditions like CADASIL Research on rare diseases can provide insights into common conditions. Healthcare for pre-vivors varies significantly based on the condition. Genetic discrimination remains a significant concern and protections for insurance are limited Finding a provider who listens and collaborates is vital. Susanna J. Smith, MPH, is the founder & host of Genetic Frontiers, a podcast about the promise, power, and perils of genetic information. As a journalist and researcher, she writes about the future of medicine, genetics, and technology in healthcare. She is also a previvor of a rare, genetic disease and working on a book project about negotiating the healthcare system as a previvor. Connect with her at geneticfrontiers.org or on LinkedIn @GeneticFrontiers. Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic: What is CADASIL? https://www.ninds.nih.gov/health-information/disorders/cadasil NORD Genetic Alliance Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial Psychological impact of genetic testing for Huntington’s disease: an update of the literature Any inquiries on the podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.   

In this conversation, Dr. Susan Weiss Liebman discusses her memoir, 'The Dressmaker's Mirror,' which intertwines her personal journey with a genetic search for a mutation linked to her niece's sudden death. She emphasizes the importance of genetic testing, the cultural heritage of her Jewish family, and the challenges faced in communicating genetic information to family members. We delve into the importance of genetic testing, particularly in relation to cardiomyopathy and other heart conditions. Dr. Liebman emphasizes the need for education among healthcare providers and the role of genetic counseling in improving patient outcomes. Key Takeaways: Family dynamics can complicate the sharing of genetic information Family communication about health history is essential There is a significant gap in awareness of hereditary cardiac conditions among healthcare providers Regular follow-ups after genetic testing are needed as knowledge evolves DNA banking can be a valuable resource for future genetic testing Dr. Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.  In the wake of her 36-year-old pregnant ​niece’s sudden collapse and death, ​Susan embarked on a frantic search for ​answers. The hunt culminated in the discovery ​of a previously unknown heart disease gene ​and an Ashkenazi Jewish mutation within it. ​Against this backdrop, Liebman's The ​Dressmaker's Mirror: Sudden death, genetics, ​and a Jewish family's secret, intertwines ​heartfelt stories of generations of love, loss, ​and resilience, with insights into genetics and ​the ongoing genetic revolution. By touching ​hearts and minds, the book offers a compelling ​call to action, guiding readers of all ethnicities ​how to use the frequently overlooked tool of ​genetic testing to safeguard their families’ ​health and save lives. Find Dr. Liebman’s book HERE and learn more about the book by checking out the book trailer and visiting www.SusanWLiebman.com Please rate and subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com Check out our Patreon at patreon.com/allaccessdna and consider donating to get bonus content, submit questions for our guests, and connect with other genetic-curious individuals. Here are more resources related to today’s topic, dilated cardiomyopathy. Check out Greg Ruf’s episode- Should I consider genetic testing for dilated cardiomyopathy? DCM Foundation Implications of Genetic Testing in Dilated Cardiomyopathy Find a Cardiomyopathy Specialist Genetic Cardiomyopathy Awareness Consortium Global Heart Hub for non-US residents The American College of Medical Genetics and Genomics (ACMG) SF v3.2 list for reporting of secondary findnigs in clinical exome and genome sequencing: https://pmc.ncbi.nlm.nih.gov/articles/PMC10524344/ Any inquiries on this podcast can be sent to [email protected] Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.