#177 Whole Genome Sequencing with PerkinElmer Genomics

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine. On This Episode We Discuss: The difference between WES and WGS How WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expecting Situations in which trio testing is helpful for WGS Prenatal WGS The future of newborn screening WGS for hereditary cancer syndromes How people learn more about PerkinElmer’s WGS Learn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn. Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host’s posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira’s textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 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. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED) Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)