Episodes

  • #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

    #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
    Feb 6 2026
    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 IBeing told “nothing can be done” and choosing to challenge that narrativeNavigating rare disease advocacy before the internet, social media, or established drug development pathwaysTeaching himself medical and scientific concepts without formal trainingEarly advocacy tactics: medical dictionaries, libraries, conferences, and cold outreachBuilding a nonprofit organization from the ground up to support research and familiesThe fragmented healthcare and research system rare disease families faced in the 1990sThe critical role of relationships in advancing rare disease researchMark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progressBridging families, clinicians, and researchers to accelerate treatment developmentThe path to developing the first treatment for MPS IHow one family’s advocacy changed outcomes for future patientsParents as drivers of innovation in rare diseasePersistence, collaboration, and problem-solving in the absence of clear systemsEnduring 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! RealPharmaBeyond The Thesis with Papa PhDDNA DialoguesIt Happened To MeAll Access DNA#ThroughTheGenesDemystifying GeneticsPhenoTips Speaker Series Parálisis Cerebral RespuestasHumanism TodayGods and Genes If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. 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. Relevant Resources: Rare Rebels Website Rare Rebels on Spotify Rare Rebels on Apple Podcasts MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page Gene Reviews’ Mucopolysaccharidosis Type I Page Dr. 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? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    1 hr and 5 mins
  • #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing

    #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing
    Jan 30 2026
    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. Joining us from Portugal is Dr. 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 landscapeWhy a research-driven approach is central to its diagnostic mission From Research to Routine Diagnostics Translating research findings into clinical workflowsBalancing innovation with responsibility in patient-facing diagnostics Choosing the Right Technology Partner Why IPATIMUP selected MGI sequencing platformsWhat differentiates MGI’s technology in oncology applicationsThe importance of flexibility across DNA and RNA testingWhy long-term technical collaboration matters beyond installation Large Gene Panels in Clinical Practice How Gene+ selected the 1,021 genes included in its oncology panelReal-world experience using large DNA and RNA panels in routine diagnosticsWhy the Gene+ panel pairs effectively with MGI’s sequencing platformsWhat it takes to move from validation to clinical implementation RNA Sequencing as a Diagnostic Advantage How RNA sequencing complements DNA-based testing in oncologyWhen RNA sequencing provides the most clinical valueHow RNA data can increase diagnostic confidence in complex cases Automation, Scale, and Quality Why automation is essential for high-throughput oncology labsReducing hands-on time and minimizing human errorPractical advice for labs looking to scale while maintaining consistency and quality Relevant Resources: IPATIMUPMGI TechMGI’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? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    34 mins
  • #378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients

    #378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients
    Jan 24 2026
    February 3rd, 2026 Update: The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it). January 30th, 2026 Update: Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government. The next step for the bill is to go back the U.S. House of Representatives for final passage. Urge your representatives to pass this legislation, MDA made it easy to do so here. 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 familiesWhat proposed reductions for Fiscal Year 2026 could mean for rare disease researchHow 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 conditionsThe difference between slowed progress and permanent loss for progressive neuromuscular diseasesHow NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trialsWhat 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 patientsWhich types of studies are most vulnerable to funding cutsHow 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 laterCommon 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 todayWhat makes a patient or family story resonate with lawmakers and staffersHow 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 PageMDA Advocacy Action CenterDonate to MDAMDA's X PageMDA's Instagram PageRequest 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...
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    33 mins
  • #377 Integrating Pharmacogenomics (PGX) into Elder Care

    #377 Integrating Pharmacogenomics (PGX) into Elder Care
    Jan 23 2026
    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 homeHow memory-related illnesses change caregiving compared to physical limitations aloneCommon misconceptions about the progression of cognitive declineWhat “successful aging in place” realistically looks like Medication Challenges in Older Adults Why polypharmacy is so common—and so risky—in later lifeHow medications that once worked well can become problematic over timeReal-world examples of unexpected medication reactions in individuals with memory changesWhy 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 termsWhy genetic-informed prescribing can become relevant later in life, even if medications were previously toleratedHow PGX may help prevent medication-related crises before they happen PGX in Home-Based Memory Care How pharmacogenomics could reshape medication decisions for dementia careMedication categories that often raise red flags in older adultsHow 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 careHow caregivers can request medication reviews without feeling confrontationalWhere healthcare systems often fall short of the realities families manage at home Looking Ahead What it would mean to routinely integrate pharmacogenomics into elder careMichele’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. She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching. 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. Relevant DNA Today Podcast Episode: #108 Dr. Becky Winslow on Pharmacogenomics ...
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    31 mins
  • #376 Why Females with Fabry Disease Aren’t “Just Carriers”

    #376 Why Females with Fabry Disease Aren’t “Just Carriers”
    Jan 16 2026

    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? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

    Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!

    DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our 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.

    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

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    35 mins
  • #375 How Your Publication Can Fuel Genetic Innovation

    #375 How Your Publication Can Fuel Genetic Innovation
    Jan 9 2026
    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. Dr. 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 discoveryHow collaboration across disciplines accelerates innovationTranslating genetic discoveries into real-world therapiesThe role of publishing and open science in driving progressHow journals are adapting to promote transparency and reproducibilityAdvice for early-career researchers balancing ambition with sustainabilityThe evolving landscape of global collaboration in scienceHow AI and automation are transforming both research and publishingThe ethics and equity considerations of AI-driven scienceThe 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 FinderGenetics and Genomics: Advanced Science Collection Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal CollectionsWiley's AI guidelines for AuthorsWiley’s ExplanAItions 2025: The evolution of AI in researchWhat Makes a Successful Submission Wiley Blog PostEligibility for access to Research4Life Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health SciencesWiley 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? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    27 mins
  • #374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine

    #374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine
    Jan 2 2026
    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 ProjectWhat 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 2000sEarly pharmacogenomics and predicting chemotherapy responseBarriers to adoption, including cost, infrastructure, and skepticism The Growth Era: Expansion of Genetic Testing How cancer diagnostics and precision medicine began shaping standard careShifts in how clinicians and patients talked about risk and preventionLessons learned about equity, access, and unmet expectations The Current Era: Precision Medicine Goes Mainstream What distinguishes today’s genetic testing landscape from earlier erasOngoing challenges around affordability, access, and educationThe 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-omicsWhere AI and advanced data analytics fit into future care modelsWhy collaboration across pharma, diagnostics, advocacy groups, and patients is essentialWhether 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, ResearchFierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy saleThe Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firmNational 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? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on ...
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    45 mins
  • #373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

    #373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis
    Dec 26 2025
    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:UncomplicatedFull term (39 wks) via NSVDNo exposures or complications reportedNormal prenatal ultrasounds Newborn Screening:Elevated immunoreactive trypsinogen (IRT)Two CFTR variants identified on screening panel Development: Appropriate for ageGrowth: Slightly below weight percentileSymptoms: Mild cough, parents believe it’s due to the change of weatherSpecialists Seen: Pediatrician only so farMedications/Treatments: None currentlyTherapies: None currently Family History: Ancestry: Dad- Irish Mom- Af. AmericanNo consanguinity, birth defects, or known genetic conditionsNo history of cystic fibrosis or early infant deathsOne 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 introductionsReason 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 historyReview newborn historyReview of systems with focus on:Respiratory symptomsDigestive symptoms and growth patternsFrequency of ...
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    43 mins