DNA Today: A Genetics Podcast

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing. Our episode is broken into three segments… Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger Relevant Resources: Baylor Genetics Segment Resources: Baylor Genetics Announces Enhanced Whole Genome Sequencing Test Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay Illumina Segment Resources: Genomewide Sequencing Ontario Project Illumina’s Emedgene variant interpretation software Illumina’s Grand Rounds in Genomic Medicine Genome Aggregation Database (gnomAD) Ambry Genetics Segment Resources: Ambry Genetics’ Patient for Life website and white paper Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access” Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project #231 ChatGPT and AI In Genetics with Daniel Uribe #285 AI To Enhance Variant Curation with Daniel Uribe #297 Exome Reanalysis with Ambry Genetics #303 RNA Analysis with Ambry Genetics #325 Revolutionizing Variant Curation with MAVEs #334 ACMG 2025 Recap #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey Upcoming Conferences: In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026… Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego Podcast Movement in September in New York City American Society of Human Genetics (ASHG) in October in Montreal National Society of Genetic Counselors (NSGC) in November in Baltimore Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend;) Until then, why not dive into our library of over 385 episodes? 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. 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.

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases. Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and 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. Topics Covered in This Episode: RNAseq 101: What RNA sequencing is and how it complements DNA sequencing. Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss. Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care. Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq. Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant? Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time. When Results Are Inconclusive: How to handle unexpected or unclear RNA findings. Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice. Implementation Barriers: Challenges to scaling multi-omic testing in routine labs. Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade. Resources & Links: Learn more about Baylor Genetics here Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor 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 Delays Dr. 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 Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 380 episodes? 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. 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.

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey. In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries. Together, we discuss: How rare disease care in Brazil compares to the U.S. Why whole genome sequencing is a game changer for undiagnosed patients Lessons learned from national-scale genomics initiatives The role of public–private partnerships in sustaining innovation What the future holds for rare disease diagnostics worldwide Relevant Resources: MGI Tech MGI’s Sequencing Platforms NeoGenomica NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses. 100,000 Genomes Project by Genomics England Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582 Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. PMID: 38838312; PMCID: PMC11350637. Relevant DNA Today Podcast Episode: #285 AI To Enhance Variant Curation with Daniel Uribe #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI 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 380 episodes? 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. 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.

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab. This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only. To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link! Don’t miss all the episodes this season! In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster? Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only. Episode Discussion Topics: The importance of clear definitions: functional vs. complete cures Why developing universal medical cures is incredibly complex The role of clinical trials in developing potential medical cures How AbbVie’s Pathway to Cures program fosters collaboration and innovation The transformative impact of precision medicine and reverse translation How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies The emotional and practical significance of potential medical cures for patients and scientists Relevant Resources: Listen to The Persistence Lab AbbVie: Pathway to Cures AbbVie: Can We Find Cures Faster Article AbbVie: AI & Data Convergence Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!

In celebration of Charles Darwin’s birthday on February 12th, we gathered in-person with fellow science nerds to learn about evolution. In this special live episode of DNA Today, we’re sharing highlights from Connecticut’s 18th Annual Darwin Day Dinner, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever. Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms. This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined. Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations. The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world. Topics Discussed In This Episode: An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species Exploration of natural selection and Darwin’s enduring influence on modern biology How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories The role of horizontal gene transfer in microbial evolution and its significance Highlights from Connecticut’s 2026 Darwin Day celebration Charles Darwin’s “entangled bank” and its relevance today What Darwin got right—and what modern science has updated Natural selection at the gene level vs. organism level Why evolution isn’t always gradual: rapid change and hybridization Horizontal vs. vertical gene transfer explained How viruses, bacteria, and other mechanisms move genes across species The role of horizontal gene transfer in microbial evolution Real-world implications for medicine, antibiotic resistance, and biotechnology How curiosity and early inspiration shape scientific careers The importance of science communication and public engagement About Our Guest: Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering. About the Event: This episode was held and recorded live at Connecticut’s 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website. Relevant Resources: Gogarten Lab at The University of Connecticut Dr. Johann Peter Gogarten’s LinkedIn Page “Charles Darwin: History’s Most Famous Biologist” via Natural History Museum International Darwin Day Foundation The Connecticut Darwin Day website Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut HFFC’s Podcast, Humanism Today Relevant DNA Today Podcast Episode: #100 Carl Zimmer on Human Heredity #134 Dr. Kat Arney on Cancer Evolution #335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution Gene Pool Media: The Science Podcast Network: DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 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 380 episodes? 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. 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.

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels. The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change. The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work. In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives. In This Episode: Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I Being told “nothing can be done” and choosing to challenge that narrative Navigating rare disease advocacy before the internet, social media, or established drug development pathways Teaching himself medical and scientific concepts without formal training Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach Building a nonprofit organization from the ground up to support research and families The fragmented healthcare and research system rare disease families faced in the 1990s The critical role of relationships in advancing rare disease research Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress Bridging families, clinicians, and researchers to accelerate treatment development The path to developing the first treatment for MPS I How one family’s advocacy changed outcomes for future patients Parents as drivers of innovation in rare disease Persistence, collaboration, and problem-solving in the absence of clear systems Enduring lessons for today’s rare disease community and advocates Gene Pool Media: The Science Podcast Network: Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases Relevant DNA Today Podcast Episode: #171 Farber Disease with Aceragen (also a lysosomal storage disorder) #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder) #378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients 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 380 episodes? 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. 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.

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact. In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use. Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality. In This Episode, We Discuss Setting the Stage: IPATIMUP’s Role in Oncology How IPATIMUP fits into Europe’s oncology landscape Why a research-driven approach is central to its diagnostic mission From Research to Routine Diagnostics Translating research findings into clinical workflows Balancing innovation with responsibility in patient-facing diagnostics Choosing the Right Technology Partner Why IPATIMUP selected MGI sequencing platforms What differentiates MGI’s technology in oncology applications The importance of flexibility across DNA and RNA testing Why long-term technical collaboration matters beyond installation Large Gene Panels in Clinical Practice How Gene+ selected the 1,021 genes included in its oncology panel Real-world experience using large DNA and RNA panels in routine diagnostics Why the Gene+ panel pairs effectively with MGI’s sequencing platforms What it takes to move from validation to clinical implementation RNA Sequencing as a Diagnostic Advantage How RNA sequencing complements DNA-based testing in oncology When RNA sequencing provides the most clinical value How RNA data can increase diagnostic confidence in complex cases Automation, Scale, and Quality Why automation is essential for high-throughput oncology labs Reducing hands-on time and minimizing human error Practical advice for labs looking to scale while maintaining consistency and quality Relevant Resources: IPATIMUP MGI Tech MGI’s Sequencing Platforms Gene+ Relevant DNA Today Podcast Episode: #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel 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 375 episodes? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. 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.

January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th. Urge your senators to pass this legislation, MDA made it easy to do so here. Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you! ------------------------------------------------------------------------------ What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment. We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University. We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it. In This Episode, We Discuss What’s Actually Happening With NIH Funding Why the phrase “NIH cuts” understates the real-world impact on patients and families What proposed reductions for Fiscal Year 2026 could mean for rare disease research How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials Why Rare Disease Research Is Especially at Risk Why rare disease programs are more sensitive to funding instability than common conditions The difference between slowed progress and permanent loss for progressive neuromuscular diseases How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge Neuromuscular Disease Research in 2026 Where neuromuscular research stands today and what breakthroughs are closest to patients Which types of studies are most vulnerable to funding cuts How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases Policy Realities & Misconceptions How to explain to policymakers that cutting research now increases long-term healthcare costs later Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart” Advocacy: What You Can Do Right Now The most effective actions for advocates engaging Capitol Hill today What makes a patient or family story resonate with lawmakers and staffers How collective advocacy protects not just future discoveries, but lives happening right now Relevant Resources: Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026. MDA Advocacy Landing Page MDA Advocacy Action Center Donate to MDA MDA's X Page MDA's Instagram Page Request MDA Services We Work For Health Relevant DNA Today Podcast Episode: #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #327 How Patient Advocacy is Changing Rare Disease Research #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (including NIH changes with former NHGRI Director Dr. Eric Green) Connect With Us: Usually we release new episodes on Friday, but since this was so timely we released it as a bonus episode. You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? 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. 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.

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help? In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life. Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next. We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care. On This Episode We Discuss: Aging in Place & Memory Care What families are most concerned about when trying to keep a loved one at home How memory-related illnesses change caregiving compared to physical limitations alone Common misconceptions about the progression of cognitive decline What “successful aging in place” realistically looks like Medication Challenges in Older Adults Why polypharmacy is so common—and so risky—in later life How medications that once worked well can become problematic over time Real-world examples of unexpected medication reactions in individuals with memory changes Why older adults are especially vulnerable to side effects, particularly with cognitive impairment Pharmacogenomics, Explained for Caregivers What pharmacogenomics (PGX) is and how to explain it to families in practical terms Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated How PGX may help prevent medication-related crises before they happen PGX in Home-Based Memory Care How pharmacogenomics could reshape medication decisions for dementia care Medication categories that often raise red flags in older adults How genetic insights may help protect individuals who can’t clearly report side effects Advocacy, Access & System Gaps Barriers families face when trying to access PGX-informed care How caregivers can request medication reviews without feeling confrontational Where healthcare systems often fall short of the realities families manage at home Looking Ahead What it would mean to routinely integrate pharmacogenomics into elder care Michele’s key message for caregivers navigating medications, memory care, and aging in place Our Guest: Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life. Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true. Relevant Resources: Need Health? UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds ClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Implementation Consortium (CPIC®) Relevant Papers: Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585. van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271. Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616. Becky Winslow on Pharmacogenomics #174 Pharmacogenomics with Fulgent Genetics #229 Pharmacogenomics with Avni Santani #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) #354 How Pharmacogenomics is Revolutionizing Drug Prescriptions #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (Talked about PGx with chemotherapy) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders. Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families. We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals. Topics Covered in This Episode What Fabry disease is and how it affects the body. The impact of Fabry’s X-linked inheritance on clinical presentation. Why the term “just a carrier” is misleading for females or people with two X chromosomes. Variability in disease expression among females and key clinical cases. Classic vs. later-onset Fabry phenotypes and diagnostic challenges. Common signs and symptoms that often go unrecognized. Barriers leading to delayed diagnosis and under-recognition. Benefits of early detection and cascade family screening. Managing variants of uncertain significance (VUS) in the GLA gene. Limits of genotype–phenotype correlations in Fabry disease. Psychosocial challenges for families living with a Fabry diagnosis. Advice for clinicians and genetic counselors evaluating potential Fabry patients. Resources & Links The brand new website, FindingFabry.com has additional information and resources. Amicus’ website here also has information about Fabry disease. Patients’ stories about living with Fabry disease. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? 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. 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.

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine. We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact: Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Topics Covered In This Episode: The stories behind scientific breakthroughs and what fuels discovery How collaboration across disciplines accelerates innovation Translating genetic discoveries into real-world therapies The role of publishing and open science in driving progress How journals are adapting to promote transparency and reproducibility Advice for early-career researchers balancing ambition with sustainability The evolving landscape of global collaboration in science How AI and automation are transforming both research and publishing The ethics and equity considerations of AI-driven science The importance of representation and global voices in genomics Key Takeaways True innovation thrives on collaboration—across labs, disciplines, and continents. Publishing isn’t the end of science; it’s a catalyst for connection and progress. Bridging basic discovery to clinical application requires persistence and shared purpose. Transparency, communication, and mentorship are essential to the next wave of breakthroughs. Relevant Resources: Wiley Advanced Portfolio Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors Wiley’s ExplanAItions 2025: The evolution of AI in research What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering Relevant DNA Today Podcast Episode: #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning? To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine. Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution. On This Episode, We Discuss: Setting the Stage: Rome’s Personal Journey How Rome entered the genetics and diagnostics space shortly after the Human Genome Project What motivates his continued work at the intersection of innovation, patients, and access Why confidence, curiosity, and communication matter in fast-changing scientific fields The Early Era: Post–Human Genome Project What diagnostics felt like in the early 2000s Early pharmacogenomics and predicting chemotherapy response Barriers to adoption, including cost, infrastructure, and skepticism The Growth Era: Expansion of Genetic Testing How cancer diagnostics and precision medicine began shaping standard care Shifts in how clinicians and patients talked about risk and prevention Lessons learned about equity, access, and unmet expectations The Current Era: Precision Medicine Goes Mainstream What distinguishes today’s genetic testing landscape from earlier eras Ongoing challenges around affordability, access, and education The role of podcasts and science communication in empowering patients Looking Ahead: The Next Era of Genetic Testing What might define the next wave: RNA, epigenomics, microbiome, multi-omics Where AI and advanced data analytics fit into future care models Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential Whether population-wide genetic testing could become routine in the years ahead About the Guest 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. Relevant Resources: Genetics for Healthcare Podcast Hosted by Rome Madison American Lung Association; EGFR and Lung Cancer Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm National Comprehensive Cancer Network Guidelines The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!) Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #182 Eric Green on the Complete Human Genome Project #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today. Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. Mock Session Information: Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. Case Details: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. Patient Name: Liam Ventura Parent Names: Mary and Sam Ventura Medical History: Pregnancy: Uncomplicated Full term (39 wks) via NSVD No exposures or complications reported Normal prenatal ultrasounds Newborn Screening: Elevated immunoreactive trypsinogen (IRT) Two CFTR variants identified on screening panel Development: Appropriate for age Growth: Slightly below weight percentile Symptoms: Mild cough, parents believe it’s due to the change of weather Specialists Seen: Pediatrician only so far Medications/Treatments: None currently Therapies: None currently Family History: Ancestry: Dad- Irish Mom- Af. American No consanguinity, birth defects, or known genetic conditions No history of cystic fibrosis or early infant deaths One paternal cousin with male infertility Prior Carrier Results: Dad- F508del Carrier Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T Pediatric Mock Session Outline Contracting Greetings and introductions Reason for referral to genetic counseling (positive newborn screening for CF) Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” Address patient questions or concerns such as: “What does this mean for our baby?” “Does this mean he has cystic fibrosis?” “Could this happen again in another pregnancy?” “Did we do something to cause this?” Medical Intake Review pregnancy and delivery history Review newborn history Review of systems with focus on: Respiratory symptoms Digestive symptoms and growth patterns Frequency of infections Developmental milestones and any delays noted by parents Medications, supplements, or current therapies Family History Construct a three-generation pedigree Ask about consanguinity, early childhood deaths, chronic respiratory or digestive issues, and male infertility Determine if any relatives have known carrier status for CF or other genetic conditions Patient Education: Overview of Genetics Explanation of autosomal recessive inheritance Each parent is likely a carrier of one CFTR gene variant With each pregnancy: 25% chance for a child with CF 50% chance to be a carrier 25% chance to be unaffected and not a carrier Cystic Fibrosis Overview Genetic condition that can affect the lungs and digestive system Caused by variants in the CFTR gene that affect how mucus and other secretions function Range of possible symptoms from mild to more significant depending on variants involved (explain variable expressivity) Genetic Testing Discussion Both parents previously had carrier testing done, dad came back with a variant and mom did not. Testing options: CFTR gene sequencing and deletion/duplication analysis for mom: c.1675G>A p.A559T variant is found afterwards Sample collection: Blood or saliva Results: Positive: Confirms CF diagnosis Testing Process Turnaround time: 2–4 weeks Informed consent and shared decision-making Recommendations and Next Steps Proceed with diagnostic testing for Liam Offer CFTR gene sequencing to parents Coordinate follow-up once results are available, will call once results are available Provide educational resources on CF and genetic testing Discuss implications for future pregnancies Relevant Cystic Fibrosis Genetic DNA Today Episodes: #147 CF Series: Bijal Trivedi on "Breath From Salt" #148 CF Series: Shuling Guo on Pharmaceuticals #149 CF Series: Boomer Esiason’s Son Gunnar on Patient Advocacy Previous installments of our Mock Genetic Counseling Session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism Episode #351: Cardio Session for Sudden Death of A Family Member Episode #368: Prenatal Session for Increased Nuchal Transluency Disclaimer: Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition. Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury. This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope. On This Episode, We Discuss: Understanding Hunter Syndrome (MPS II) What it means to have a metabolic disorder and how MPS II affects the body Common symptoms and how the disease progresses over time The variability in presentation and severity among individuals A Family’s Journey Through Hunter Syndrome Kristin’s experiences growing up with a brother affected by Hunter syndrome Losing Zachary and later receiving the diagnosis for her son, Charlie How these experiences shaped her perspective as both a parent and an advocate Project Alive: Mission, Growth & Impact The origins and mission of Project Alive Key initiatives supporting research, families, and advocacy How the organization balances funding science, supporting families, and influencing policy Gene Therapy & the RGX-121 Delay Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families The emotional and practical impact of regulatory delays in ultra-rare diseases What changes could help expedite review processes for rare disease therapies Advocacy, Equity & Access How Project Alive amplifies the voices of a small but urgent patient community Strategies for engaging policymakers and industry partners Lessons the broader rare disease field can learn from this advocacy model Looking Ahead & How You Can Help What listeners can do to support Project Alive Opportunities for advocacy, awareness-building, and community engagement Relevant Resources: Project Alive MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692. The Precision Medicine Initiative launched by President Obama It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future) National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases STAT News: 1 in 10 Americans have a rare disease, but few have treatments Cystic Fibrosis Foundation’s Venture Philanthropy Model Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673 Denali Therapeutics Drug Pipelines (including MPSII) Researchers estimated that 42% of Americans over age 55 will eventually develop dementia. Francis Collins) leads to first FDA-approved treatment for progeria Relevant DNA Today Podcast Episode: #147 CF Series: Bijal Trivedi on "Breath From Salt" #149 CF Series: Gunnar Esiason on Patient Advocacy #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized. On This Episode We Discuss: Parenting a Child with Cockayne Syndrome: Lack of carrier screening during IVF. Genetic aspects and impact on DNA repair. Different types of Cockayne Syndrome and their symptoms. Tailored Care for Ronan: Importance of specific growth charts and dietary considerations. Role of a supportive community and foundation efforts. Overlap with Other Disorders: Similarities with other DNA repair disorders. Importance of awareness and advocacy. Support and Encouragement: Message to families and caregivers about community support. Emphasis on shared experiences and advocacy. Relevant Resources: Cockayne Syndrome Foundation TikTok: @HopeForCS Instagram: @HopeForCS Facebook Cockayne Syndrome Page on MedlinePlus Trichothiodystrophy (TTD) on MedlinePlus Cockayne Syndrome: A Manual for Healthcare Providers Cockayne Syndrome: A Manual for Parents and Caregivers Growth Chart: Cockayne Syndrome Type 1 and Type 2 The National Initiative for Cockayne Syndrome (NICS) Amy and Friends MRI Lego Set Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum) Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329. Relevant DNA Today Podcast Episode: #39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum) #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026. The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. Top 2025 Papers With Genomic Medicine Advancements Gene Therapy CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe Utility of a high-activity variant in gene therapy for hemophilia B Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detection Long-read genome sequencing identifies diagnostic variants Exome sequencing in critical illness is useful in adults as well as children Other Utility of pharmacogenomics in chemotherapy for GI cancers Polygenic risk score disclosure reduces adverse cardiovascular events Preimplantation genetic testing reduces risk of mtDNA diseases The Guests: Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine. Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research. Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “ Charting a course for genomic medicine from base pairs to bedside ” (Nature 470:204-213, 2011); the second yielded the 2020 paper ” Strategic vision for improving human health at The Forefront of Genomics ” (Nature 586:683-692, 2020). With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981 and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. While directing an independent research program for just over two decades, Dr. Green was at the forefront of efforts to map, sequence and understand mammalian genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function and evolution. His laboratory also pursued human genetics studies and identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease and peripheral neuropathy. Dr. Green has received countless awards, most recently the 2025 ASHG Leadership Award where he received a much deserved standing ovation. Quick Fact Check: Kira estimated there were 30 or 40 genes in the mitochondria, she was in the ballpark, there are 37 genes. Additional Papers Referenced: (In order of appearance) Hobbs HH, Cohen JC, Horton JD. PCSK9: From Nature's Loss to Patient's Gain. Circulation. 2024 Jan 16;149(3):171-173. doi: 10.1161/CIRCULATIONAHA.123.064498. Epub 2024 Jan 16. PMID: 38227713; PMCID: PMC10874118. Musunuru K, Urnov F. Moving Therapeutic Genome Editing into Global Clinical Trials and Medicine. CRISPR J. 2025 Aug;8(4):228-231. doi: 10.1089/crispr.2025.0049. Epub 2025 May 22. PMID: 40397097. Gurevitz C, Bajaj A, Khera AV, Do R, Schunkert H, Musunuru K, Rosenson RS. Gene therapy and genome editing for lipoprotein disorders. Eur Heart J. 2025 Sep 15;46(35):3420-3433. doi: 10.1093/eurheartj/ehaf411. PMID: 40600248; PMCID: PMC12448413. Logsdon, G.A., Ebert, P., Audano, P.A. et al. Complex genetic variation in nearly complete human genomes. Nature 644, 430–441 (2025). et al. Heritable polygenic editing: the next frontier in genomic medicine?. Nature 637, 637–645 (2025). https://doi.org/10.1038/s41586-024-08300-4 Lapinska S, Pimplaskar A, Shi Z, Ding Y, Frydman-Gani C, Hou K, Venkateswaran V, Boulier K, Olde Loohuis LM, Pasaniuc B. Exploring depression treatment response by using polygenic risk scoring across diverse populations. Am J Hum Genet. 2025 Aug 7;112(8):1877-1891. doi: 10.1016/j.ajhg.2025.06.003. Epub 2025 Jun 27. PMID: 40580956; PMCID: PMC12362525. Joon-Ho Yu, Katherine E. MacDuffie, Olivia Sommerland, Tesla Theoryn, Priyanka Murali, Kailyn Anderson, Megan Sikes, Lukas Kruidenier, Heidi I.S. Gildersleeve, Abbey Scott, Kati J. Buckingham, Kirsty McWalter, Paul Kruszka, Alexandra C. Keefe, Jessica X. Chong, David L. Veenstra, Katrina M. Dipple, Tara Wenger, Dan Doherty, Michael J. Bamshad, Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis, Human Genetics and Genomics Advances, Volume 6, Issue 4, 2025, 100464, ISSN 2666-2477, https://doi.org/10.1016/j.xhgg.2025.100464. Yu JH, MacDuffie KE, Sommerland O, Theoryn T, Murali P, Anderson K, Sikes M, Kruidenier L, Gildersleeve HIS, Scott A, Buckingham KJ, McWalter K, Kruszka P, Keefe AC, Chong JX, Veenstra DL, Dipple KM, Wenger T, Doherty D, Bamshad MJ. Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis. HGG Adv. 2025 Oct 9;6(4):100464. doi: 10.1016/j.xhgg.2025.100464. Epub 2025 Jun 3. PMID: 40468597; PMCID: PMC12357158. Relevant Resources: “World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia” via CHOP “Is NIH cutting corners as it rushes to fill leadership positions?” via Science Insider “The U.S. Is Funding Fewer Grants in Every Area of Science Medicine” via The New York Times American Society of Human Genetics Past President List Six Things to Know About ASHG’s Advocacy Work in 2025 Six Ways to be an ASHG Advocate “On the Hill and Working for You: Our Advocacy in Action” ASHG Webinar Mass General Brigham launches genetic test to predict risk across eight cardiovascular conditions via Broad Institute Human Pangenome Project “ Stanford scientist (Dr. Euan Ashley) who broke genome sequencing record on what faster diagnoses mean for patients” (2023) via STAT News Broad Clinical Labs sets new GUINNESS WORLD RECORDS™ title for fastest DNA sequencing technique “All babies in England to get DNA test to assess risk of diseases within 10 years” via The Guardian “Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes about the Sunshine Genetics Act Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening (BEACONS) First U.S. National Genomic Newborn Screening Initiative Launched with $14.4 Million NIH Award Being an accidental pioneer in precision medicine | Matt Might | TEDxBirmingham Relevant DNA Today Podcast Episode: #110 Gattaca, 22 Years Later #117 Dr. Janina Jeff on African Genomes #150 Euan Ashley and Stephen Quake on The Genome Odyssey #182 Eric Green on the Complete Human Genome Project #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium #214 Genetics Wrapped 2022 (with Dr. Eric Green) #216 African American Ancestry with Nicka Smith #221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels #260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green) #266 Genetics Wrapped 2023 (with Drs. Eric Green and Brendan Lee) #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Drs. Bruce Gelb and Eric Green) #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #358 AGBT Precision Health 2025 Meeting Recaps and Reflections (with Dr. Eric Green) #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding Connect with us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our library of over 365 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it can have on advancing our profession. Episode Topics Discussed: Kathy's Motivation and Background Kathy's role as a program director and her journey in genetic counseling. The importance of scholarships and funding for diverse backgrounds. Grant Funding and Impact Details of the grants from the Warren Alpert Foundation. The impact of these grants on genetic counseling education and diversity. Challenges in Genetic Counseling Discussion on the barriers to funding and access in genetic counseling. Kathy's personal experiences and commitment to overcoming these challenges. Mentorship and Networking The role of mentorship and networking in Kathy's success. Advice on starting with small grants and building a track record. Programs Supported by Grants Overview of the Alliance for Genetic Counseling and Career Ladder Education Program. Benefits provided to students, including tuition, health insurance, and stipends. Educational Opportunities and Continuing Education The importance of continuing education for genetic counselors. Details of the Advanced Research Training Certificate Program. Long-term Effects and Measuring Success Metrics and outcomes of the grant programs. Success stories and the impact on students' careers. Advice for Aspiring Grant Recipients Kathy's advice on grant writing and overcoming imposter syndrome. The importance of perseverance and community support. Future of Genetic Counseling Kathy's vision for the future of genetic counseling. The need for continued education and support in the field. The Guest: Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field. Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care. Relevant Resources: Grant Superhero: Kathleen Valverde, PhD, LCGC Dr. Kathleen Valverde’s PubMed Articles Warren Alpert Foundation The Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC) Alliance for Genetic Counseling Fellowship Audrey Heimler Special Projects Award (AHSPA) Jane Engelberg Memorial Fellowship (JEMF) The Basser Center for BRCA PhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell Relevant DNA Today Podcast Episodes: #25 Interview with Cancer Hereditary Experts (with Ellen Matloff) #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #136 Linda Robinson on the History of Genetic Counseling #234 Genetic Counseling History: 1st NSGC Conference #235 Genetic Counseling History: ABGC Formation #244 Genetic Counseling History: The 70s #319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice (with Ellen Matloff) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our backlog of over 365 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today. Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College. Mock Cardiac Genetic Counseling Session Outline Session Indication: The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor. Contracting Brittany introduces herself as the genetic counselor and confirms the referral reason. The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling. Explanation of Ultrasound Findings Discussion of the nuchal translucency (NT) measurement and its implications. Explanation of the potential genetic conditions associated with increased NT. Screening and Testing Options Overview of non-invasive prenatal testing (NIPT) and its capabilities. Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing. Family History and Genetic Concerns Exploration of family history for genetic conditions or concerns. Discussion of Factor V Leiden and its implications. Decision-Making and Next Steps Discussion of the patient's feelings and decision-making process regarding testing. Planning for screening tests and follow-up consultations. Conclusion Recap of the session and reassurance provided to the patient. Information on how to reach out with further questions and the plan for future appointments. Relevant Reproductive Genetic DNA Today Episodes: Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions Previous installments of our Mock Genetic Counseling Session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism Episode #351: Cardio Session for Sudden Death of A Family Member Disclaimer: Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

Science and religion don’t have to be in conflict. Our host Kira Dineen interviews Amber about the conversations that emerge when genomics meets spirituality, from how clinicians respectfully engage with patients’ beliefs to how our own worldviews shape care at the bedside. Amber shares her personal background growing up in a religiously mixed home (Christian/atheist), her journey through deconstruction and back to a post-deconstruction Christian identity, and why that lived experience drew her to study religion and spirituality in genetic counseling for her graduate capstone at Keck Graduate Institute (KGI). With training in genetic counseling and a background shaped by a religiously mixed upbringing, Amber brings a unique perspective on how to navigate questions of faith in medical settings. Episode Topics Discussed: Why this show, why now: The vision for Gods and Genes and the gap it fills in clinical education and patient care. Science + spirituality as complements: Curiosity, mystery, and how questions in science and faith can productively coexist. Amber’s path: Growing up with Christian and atheist parents, deconstruction, and how that shapes her clinical stance today. Inside the capstone study: What genetic counselors report hearing from patients about faith/spirituality, and how prepared they feel. Key finding: Providers’ perceived helpfulness in faith-related conversations did not differ by their own religiosity, spirituality, affiliation, or years of experience, suggesting this is a trainable skill. Practical language clinicians can use: Validating statements (“It sounds like your faith is important in this decision…”) Reflective summaries to check understanding Thoughtful reframing that integrates beliefs with medical options (and knowing when to refer to chaplaincy) When beliefs and recommendations diverge: Staying non-directive, exploring assumptions, and correcting myths (e.g., privacy/HIPAA concerns). Partners in care: Why clergy (e.g., rabbis in Orthodox communities) are often medical advocates, not adversaries, and how to collaborate. Common misconceptions, both ways: Among clinicians about “what clergy do” and whether to invite them in Among faith communities about what genetic counselors do beyond prenatal care Invitations to the community: Amber seeks conversations with religious scholars, non-religion/unbelief researchers, chaplains, clinicians, and patients willing to share how belief (or non-belief) shaped their care. Correction: Around 12 minutes and 30 seconds into the episode (varies depending if you are consuming the audio or video version), Amber shares that in every session religion/spirituality comes up, she meant to say every rotation she went through, not with every patient. Key Takeaways: Patients raise spiritual or religious concerns more often than many trainees expect; be ready, not reactive. You don’t need to be religious to be helpful; skills can be learned (validation, reflection, collaboration). Not every visit needs a spiritual history, follow the patient’s lead. Chaplains, rabbis, clergy etc. Emunas Chachamim (faith in the sages): A prenatal genetic counseling needs assessment of Orthodox Jewish clergy in Los Angeles. J Genet Couns. 2024 Oct;33(5):1045-1058. doi: 10.1002/jgc4.1816. Epub 2023 Oct 25. PMID: 37877233. Thompson AB, Cragun D, Sumerau JE, Cragun RT, De Gifis V, Trepanier A. " Be Prepared if I Bring It Up:" Patients' Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling. J Genet Couns. 2016 Oct;25(5):945-56. doi: 10.1007/s10897-015-9922-9. Epub 2016 Jan 13. PMID: 26758255. Relevant DNA Today Podcast Episode: #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 Gene Pool Media: The Science Podcast Network Gods and Genes is the newest show on science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. Connect With Us: Would you like to be a guest on Gods and Genes? Email your pitch to Amber at contact@godsandgenes.com or godsandgenes@gmail.com. Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 365 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. The Graphic Designer of the new Gods and Genes logo is Safiah Peeran.

We’re back from the 44th National Society of Genetic Counselors (NSGC) Annual Conference, which took place this year in scenic Seattle, Washington! Between the waterfront views, lively poster sessions, and packed educational symposia, the energy was electric as genetic counselors and industry partners came together to celebrate the progress and future of our field. This marks the 7th year in a row that DNA Today has produced an NSGC recap episode, and it continues to be our favorite conference of the year (shhh don’t tell the others). Our host Kira Dineen, MS, LCGC, CG(ASCP)CM, spent the week attending sessions, reconnecting with past guests and sponsors, and meeting so many listeners in person (thank you to everyone who stopped to say hello!). In this episode we conduct a few in-person lightning interviews featuring attendees of the conference highlighting their favorite sessions and what they learned. Attendees featured include Grace Drew, Celine Belekdanian, Sofia Sheikh, Cristina Liriano Cepin, and Kim Ta. Kira Dineen was one of six panelists for the preconference workshop, “Think Big, Start Small: A Practical Guide to Entrepreneurship”. After it wrapped she caught up with Kate Wilson to reflect on entrepreneurship as a career path for genetic counselors. Kate Wilson was the session coordinator and moderator. We have recapped the last seven years of conferences including 2019, 2020, 2021, 2022, 2023, and 2024. Don't forget to mark your calendars! The 45th NSGC Annual Conference is happening next year in Baltimore, MD from November 10-14, 2025. We are already excited to eat lots of crab cakes with fellow genetic counselors. What’s next on our conference schedule? We will be in New Hampshire for NERGG December 4th and 5th. Our host Kira Dineen will be presenting about how to utilize social and digital media in advocacy efforts. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? 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. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.