#278 DNA Dialogues: Rare Disease Family Experience

Welcome to the first episode of DNA Dialogues, the official podcast of the Journal of Genetic Counseling. DNA Today’s Host/Producer Kira Dineen is on the production team of DNA Dialogues and is excited to share the first episode of the podcast!   Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Genetic Counseling that showcase the rare disease experience. The following interviews provide insight into the wider impact of rare disease, with a special focus on families.   Segment 1: “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”   Dr. Catherine Larson joins us in the first segment to talk about her recent article titled, “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”.    Dr. Catherine Larson is a Child and Adolescent Psychiatrist and a sibling to Elizabeth, who has a Chromosome 18 deletion. After earning her undergraduate degree, she worked as a research assistant at the Chromosome 18 Research Center, where she began her research on Sibling relationships. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. As a practicing psychiatrist, she opened her private practice in Austin, Texas, and she also returned to join the research team at the Chromosome 18 Research Center.   Dr. Catherine Larson is double Board Certified by the American Board of Psychiatry and Neurology in General Psychiatry and Child and Adolescent Psychiatry. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. In addition to her private practice, she is currently an Adjunct Assistant Professor at The University of Texas Health School of Medicine at San Antonio.  Segment 2 “Families' experiences accessing care after genomic sequencing in the pediatric cancer context: ‘It's just been a big juggle’”   Authors Sarah Scollon and Blake Vuocolo talk about their recent Journal of Genetic Counseling paper in the pediatric cancer space.    Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine and certified genetic counselor for the Texas Children’s Hospital Cancer Genetics and Genomics Program. She has served in dual clinical and research roles across the course of her career. Her research interests engage the overarching themes of (1) adaptation of genetic counseling practice to implement evolving technologies (2) optimization of patient-provider communication and education and (3) equity and inclusion for diverse populations in genetic medicine and research. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for including genetic counseling into pediatric cancer care. She works to educate others on the role genetics and genomics can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint.   Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated from the Baylor College of Medicine Genetic Counseling Program in 2022, and her thesis work focused on access to follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Currently, her work focuses on exome and genome sequencing of medically underserved populations with undiagnosed diseases throughout Texas. Ms. Vuocolo is passionate about finding sustainable ways to improve genomic health equity worldwide. Her interests include exploring access barriers to receiving genomic care in different healthcare contexts and improving genetics education for non-genetics healthcare providers in under-resourced regions of the country and beyond.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into [email protected].    DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian.    —-----------------------------------—-----------------------------------—------------------------   Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.   See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].