DNA Today: A Genetics Podcast cover art

DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

Written by: Kira Dineen Gene Pool Media
Listen for free

About this listen

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.

***Best 2020, 2021, and 2022 Science and Medicine Podcast Award Winner***

Learn more (and stream all 380+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.


This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows.

DNA Today, LLC 2012-2026 Biological Sciences Science
Episodes
  • #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

    #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida
    May 15 2026
    Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care. In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-year, voluntary newborn genetic sequencing pilot program and established the Sunshine Genetics Consortium. The program allows parents to opt in to newborn genetic screening, including whole genome sequencing. The state allocated millions for the Sunshine Genetics Pilot Program, along with additional funding for the Florida Institute for Pediatric Rare Diseases. To unpack what this could mean for rare disease diagnosis, pediatric genomic medicine, and the future of newborn screening, our host Kira Dineen is joined by Dr. Pradeep Bhide, Director of the Florida Institute for Pediatric Rare Diseases, and State Representative Adam Anderson, who championed the legislation after losing his son Andrew to Tay-Sachs disease at age 4. About Our Guests Dr. Pradeep G. Bhide is the Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience, Director of the Florida Institute for Pediatric Rare Diseases, and Director of the Center for Brain Repair at the Florida State University College of Medicine. His work focuses on developmental neuroscience, pediatric rare disease research, precision diagnostics, and advancing treatments for children and families affected by rare genetic conditions. Representative Adam Anderson represents District 57 in the Florida House of Representatives. He sponsored and championed the Sunshine Genetics Act, drawing from his family’s personal experience with rare disease after the loss of his son Andrew to Tay-Sachs disease. Through this legislation, Representative Anderson has helped position Florida as one of the first states to explore how genomic sequencing could be integrated into newborn screening and pediatric rare disease care. In This Episode, We Discuss: How Representative Anderson’s son Andrew inspired his advocacy for newborn sequencing and rare disease legislationWhat the Sunshine Genetics Act makes possible for families in FloridaHow newborn genome sequencing could shorten or prevent the rare disease diagnostic odysseyThe role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the stateWhy early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trialsHow Florida’s approach fits into the broader global movement toward newborn sequencing, alongside programs such as Genomics England’s Generation Study, GUARDIAN in New York, BeginNGS at Rady Children’s, and NIH-funded BEACONSWhat “whole genome sequencing” means in the context of this pilot, and how programs may distinguish between sequencing the whole genome and analyzing a targeted set of genesHow families may be educated about voluntary participation and informed consentWhat types of results may be returned to parents and healthcare practitionersHow programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findingsThe connection between earlier diagnosis and emerging gene-based therapiesWhat it takes to move complex genomic medicine legislation forwardHow Florida is building infrastructure for pediatric genomic medicineWhich outcomes will matter most as the five-year pilot unfolds, including enrollment, sequencing metrics, clinical impact, public health impact, cost effectiveness, and economic benefits, which are included in the reporting requirements for the program. Why This Conversation Matters For many families affected by rare disease, the search for a diagnosis can take years. Those years can include specialist visits, inconclusive testing, missed opportunities for early intervention, and emotional strain. Newborn sequencing raises the possibility of identifying certain serious genetic conditions before symptoms appear, allowing families and clinicians to act sooner. At the same time, implementing newborn sequencing brings important questions: What conditions should be included? What results should be returned? How should parents be consented? How will privacy and data use be handled? What infrastructure is needed to support follow-up care? And how can programs ensure equitable access? Relevant Resources: “Florida surges to forefront of rare disease research with boost from Sunshine Genetics Act” via Florida State University News“Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via ForbesThe Florida Institute for Pediatric Rare Diseases; the Sunshine Genetics Pilot Program; the Sunshine Genetics ConsortiumThe International Consortium on Newborn ...
    Show More Show Less
    33 mins
  • #393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap

    #393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap
    May 8 2026
    Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families. Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies. In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families. Topics Covered: The growing role of whole genome sequencing in rare disease diagnosisHow healthcare systems and clinical practices are adopting genome sequencingHow whole genome sequencing is changing pediatric patient careWhy some patients remain undiagnosed after initial WGS testingThe current diagnostic gap in rare disease geneticsEfforts underway to improve diagnostic yieldWhat a multimodal and multi-omic approach looks like in practiceHow optical genome mapping and long-read sequencing complement WGSHow labs determine when to layer on additional technologiesThe real-world impact of a confirmed diagnosis on treatment and trial access About Dr. Christine Eng: Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. About Chris Sands: Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients. Relevant Resources: Learn more about Baylor Genetics hereBaylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental TechnologiesBaylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing CasesAAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical ReportBaylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental DelaysDr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.Undiagnosed Disease Network Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity #376 Why Females with Fabry Disease Aren’t “Just Carriers” Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@...
    Show More Show Less
    29 mins
  • #392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism

    #392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism
    May 1 2026
    What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life. But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize. In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease. We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine. In This Episode, We Discuss: Why DNA should not be viewed as staticWhat somatic mutations are and why they matterThe concept of mosaicism and what it means that every human is a mosaicHow Darwinian evolution can happen within the bodyHow mutation supports antibody diversity and immune defenseClonal hematopoiesis and its links to cardiovascular disease and agingPhenocopies and how spontaneous mutations can mimic inherited diseaseCases where cells appear to self-correct through additional mutationsWhether mutation accumulation may help drive aspects of aging The Guest: Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here. Genetic Conditions Mentioned: ProgeriaWerner syndrome Hyper IgM syndromesAdenosine deaminase severe combined immune deficiency (ADA-SCID)VEXAS syndrome ​​Paroxysmal nocturnal hemoglobinuria (PNH) Duchenne muscular dystrophy (DMD) Genetic History Timeline Referenced: 1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin 1916 - Ernest Tyzzer  first used the term ‘somatic mutation’ with respect to a tumour1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick 1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell2003 - First draft of the human genome is announced complete. Relevant Papers: Early somatic mosaicism is a rare cause of long-QT syndromeVariations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences. The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis. Trisomy rescue Science Fiction Recommendations - Genetics Edition Kira’s Favorite - Orphan BlackRoxanne’s Favorite - Gattaca Relevant DNA Today Podcast Episode: #110 Gattaca, 22 Years Later #134 Dr. Kat Arney on Cancer Evolution #202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde #250 Orphan Black: The Next Chapter with Madeline Ashby #297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman #306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics #351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome) #365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 390 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And...
    Show More Show Less
    38 mins
adbl_web_anon_alc_button_suppression_c
No reviews yet