DNA Today: A Genetics Podcast

Kira Dineen, Gene Pool Media
  • 4.7 (164)
  • Life Sciences
  • Weekly

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For 14 years, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best Science and Medicine Podcast Award Winner (2020, 2021 and 2022)*** Learn more (and stream all 400+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com. This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows. 

  1. 2d ago

    #418 Hypophosphatasia Genetics: One Gene, Many Presentations

    How can variants in the same gene cause life-threatening disease in infancy for some individuals, while others experience mild symptoms or remain asymptomatic? Hypophosphatasia (HPP) challenges traditional expectations about genetic inheritance, with both autosomal dominant and autosomal recessive forms and a remarkably broad spectrum of clinical presentations. In this episode, recorded in person in Nashville, our guest is Dr. Kathryn Dahir, Professor of Medicine in the Division of Diabetes, Endocrinology, and Metabolism at Vanderbilt University Medical Center and Director of the Program for Metabolic Bone Disorders. Drawing on decades of experience caring for patients with rare skeletal conditions, Dr. Dahir explores the complex genetics of HPP and why understanding a patient's clinical presentation is just as important as interpreting their genetic test results. The conversation begins with a patient case that challenged Dr. Dahir's understanding of HPP. Initially treated for osteoporosis, the patient experienced recurrent fractures and worsening symptoms despite treatment. Further investigation revealed impaired bone mineralization, low alkaline phosphatase (ALP), and a single ALPL variant, illustrating how individuals with one affected copy of the gene can experience significant disease. Dr. Dahir explains how the ALPL gene encodes tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme essential for healthy bone mineralization, and how disruption of its activity contributes to the manifestations of HPP. We explore the differences between autosomal dominant and autosomal recessive inheritance, the challenges of predicting disease severity from genetic testing alone, and why even relatives carrying the same ALPL variant may have very different symptoms. Dr. Dahir discusses the importance of identifying variants in cis or trans, recognizing deletions and duplications, evaluating variants of uncertain significance, and considering how genetic modifiers, environmental exposures, and coexisting conditions can influence a patient's presentation. Finally, we discuss the evolving landscape of HPP genetic testing, including the importance of longitudinal follow-up, resources such as the global ALPL variant database, and ongoing efforts to improve variant classification. As genomic testing becomes increasingly accessible, this conversation highlights both its potential to improve rare disease diagnosis and the limitations of using genetics alone to predict an individual's future health. Episode Discussion Topics Dr. Dahir's clinical experience treating HPP and other rare metabolic bone disorders at Vanderbilt University Medical Center Why genetic testing must be interpreted alongside clinical symptoms, biochemical findings, and patient history A patient case illustrating how HPP can be mistaken for osteoporosis and why low alkaline phosphatase is an important diagnostic clue How the ALPL gene and tissue-nonspecific alkaline phosphatase (TNSALP) regulate bone mineralization The differences between autosomal dominant and autosomal recessive HPP and the challenges of distinguishing affected individuals from asymptomatic carriers Why genotype-phenotype correlations in HPP are complex, even among family members with the same genetic variant The importance of determining whether variants are in cis or trans and identifying deletions or duplications that some testing platforms may miss How modifier genes, epigenetics, medication exposures, and coexisting medical conditions may influence HPP symptoms and severity Interpreting variants of uncertain significance and the importance of genetic counseling, variant reclassification, and long-term follow-up The role of the global ALPL variant database in improving classification and understanding the clinical significance of genetic variants Future opportunities to identify protective genetic factors and improve predictions of disease progression About the HPP Series This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management.   This series is sponsored by Alexion. The views expressed by the host and guests are their own. Resources & Links Vanderbilt University Medical Center Alexion, AstraZeneca Rare Disease  ALPL Gene Variant Database Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP. Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals. Publications Dahir KM, Below JE, Liu J, Javid A, Wang G, Bastarache L. Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. J Bone Miner Res. 2026 Mar 2;41(3):270-281. doi: 10.1093/jbmr/zjaf176. Erratum in: J Bone Miner Res. 2026 Oct 11:zjag146. doi: 10.1093/jbmr/zjag146. PMID: 41269245; PMCID: PMC13016712.  Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP. Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056. Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438. Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10. Brandi ML, Khan AA, Rush ET, et al. The challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449. Relevant DNA Today Podcast Episode #408 Diagnosing Hypophosphatasia: Low ALP, Fractures, and Early Tooth Loss: Genetic counselor Amy Patterson kicks off our three-part hypophosphatasia series, sponsored by Alexion, exploring the clinical spectrum and diagnosis of HPP.  #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition. #301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy. #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how single-gene NIPT and prenatal imaging may identify conditions including achondroplasia, osteogenesis imperfecta, and other skeletal dysplasias. #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains: In the first episode of our BioMarin-sponsored achondroplasia series, Dr. Janet Legare explores the genetics, clinical presentation, diagnosis, and multidisciplinary care of achondroplasia. #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs: In the second episode of the BioMarin-sponsored series, Dr. Ricki Carroll discusses lifelong monitoring, medical complications, care coordination, and quality of life. #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan: The final episode of the BioMarin-sponsored series examines vosoritide, international treatment guidelines, and the evolution of precision medicine for achondroplasia. #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story: Mayte Garcia reflects on her and Prince’s experience with their son Amiir’s severe skeletal and craniofacial condition, Pfeiffer syndrome type 2. #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida: Dr. Pradeep Bhide and Representative Adam Anderson explore how Florida’s Sunshine Genetics Act could reshape newborn sequencing, rare disease diagnosis, and the future of pediatric genomic medicine. Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.  Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.  Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

  2. Oct 23

    #417 ASHG 2026: Electronic Genome Mapping, AI in Genetics, & the Future of Research

    For the third year in a row, DNA Today is bringing you inside the American Society of Human Genetics (ASHG) Annual Meeting, and this year, we've taken our genetics coverage international! We're reporting from beautiful Montréal, Canada, where thousands of geneticists, researchers, clinicians, and industry leaders gathered to share the latest breakthroughs shaping the future of genomics. From cutting-edge technologies to big questions about the future of genetic medicine, there's no shortage of exciting science to unpack. And don't worry, we're bringing you all the highlights, no passport required, eh? In this episode, host Kira Dineen takes you behind the scenes of ASHG 2026 through two special segments recorded at the conference. First, we stop by the Nabsys booth to chat with Founder and CEO Barrett Bready, MD, about how Electronic Genome Mapping (EGM) is advancing our ability to detect structural variants. We explore how the technology compares with traditional approaches, its emerging applications in hematologic malignancies, and the latest research Nabsys is showcasing at ASHG. For our second segment, we're live on location! DNA Today teamed up with Wiley's Advanced Portfolio to co-host a special brunch featuring a live podcast recording right from the conference. With breakfast on the table and big questions on the menu, Kira moderated a conversation with leading genetics researchers and publishing experts about the discoveries, challenges, and opportunities shaping the field. From translating genetic findings into new therapies and harnessing AI to accelerate research to fostering interdisciplinary collaboration and rethinking the role of scientific publishing, this discussion goes beyond the conference presentations to explore where genetics is headed next. Whether you joined us in Montréal or are experiencing the conference from afar, consider this your front-row seat to some of the conversations shaping the future of genetics. We're serving up fresh science with a side of maple syrup, because when it comes to genetics, there's always more to discover, eh? Nabsys Segment Guest  Barrett Bready, MD is Founder and CEO of Nabsys. He is passionate about the impact that advanced technology can have on the understanding of disease as well as on its diagnosis and treatment.  He has raised $150 million to realize a new way of analyzing DNA that uses proprietary solid-state electronic nanodetectors to analyze very long molecules, with an initial focus on genomic structural variation. Barrett is an adjunct professor at Brown University where he lectures on the rapidly evolving business of life sciences. He serves as a commissioner of the I-195 Redevelopment District Commission, a major land redevelopment initiative in downtown Providence, RI with a focus on life sciences and other high-technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year, and in 2018, a career achievement award from the Warren Alpert Medical School of Brown University. Barrett graduated from the highly competitive Program in Liberal Medical Education (PLME) at Brown University where he received an M.D. and an Sc.B. in Physics and won the undergraduate physics award (the Lindsay Prize) and the Galletti Prize for physics in medicine. Nabsys Discussion Topics ASHG 2026 conference highlights and a presentation on electronic genome mapping (EGM) in hematologic malignancies Why genomic structural variants matter in cancer and rare disease How traditional sequencing and cytogenetic approaches may leave gaps in detecting structural variation Nabsys’ electronic genome mapping as a high-resolution, top-down approach to studying genome structure How EGM uses electrical detection to read sequence-specific tags on long DNA molecules Identifying deletions, insertions, inversions, and translocations by comparing tag patterns How EGM relates to traditional cytogenetic methods such as FISH and karyotyping The nanochannel detection process and how DNA molecules affect ionic current as they pass through Nabsys’ relationship with Hitachi and the potential to scale the technology Nabsys’ goal of expanding access to structural variant detection and single-molecule insights ASHG posters on CRISPR-Cas9-mediated assay specificity and EGM applications for copy number variants in constitutional disorders The potential for EGM to combine modalities and increase diagnostic yield over time Wiley Advanced Genetics Panelists  Yuming Hu, PhD serves as the Editor-In-Chief for Advanced Genetics, which is a peer-reviewed, broad-scope, open-access journal dedicated to advancing gene-related research with a recently expanded scope. It includes not only human, animal, plant, and microbial genetics, genomics, and epigenomics, but also topics that employ genetic, omics technologies, bioinformatics, computational biology, and artificial intelligence as toolboxes for discovery and innovation. Dr. Hu received her B.Sc. and M.Sc. in Biotechnology from Wageningen University and her Ph.D. in Biochemistry and Biotechnology from Ghent University. She worked as a Research Assistant at the University of California, Davis, and completed a postdoctoral fellowship at Tsinghua University. She joined Wiley as a scientific editor in 2022.    Nadav Ahituv, PhD is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Director of the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. His lab was one of the co-developers of massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, he pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.   Brandon Lê, PhD is a genetic epidemiologist deeply passionate about biomedical research and uncovering the genetic etiologies of rare human genetic disorders, as well as a science communicator experienced in translating findings from bench to bedside. He has worked in sickle cell disease (SCD), essential tremor (ET), epigenetic aging, glaucoma, and bipolar disorder (BPD), and his training is in genetic epidemiology, statistical genetics, and computational biology as applied to analyzing large biological datasets. He is currently a postdoctoral scholar at the Virginia Institute for Psychiatric and Behavioral Genetics (VIPBG) at Virginia Commonwealth University (VCU) in Richmond, VA investigating the genetic etiology of bipolar disorder.  Panel Discussion Topics The panelists introduce their backgrounds in plant molecular genetics, psychiatric genetics, functional genomics, gene therapy, and publishing. A presidential symposium on science communication prompts discussion about making genetics more accessible to people outside the field. The panel highlights the value of clear, audience-friendly language—for example, using “variant” rather than “mutation” when speaking to the public. Panelists reflect on communicating genetics across different levels of expertise, including for conference attendees outside a session’s specific subfield. A session on research beyond GWAS covers biobank studies, multi-omics and single-cell data calibration, false positives, machine-learning approaches to prioritizing genetic findings for drug discovery, and challenges in translating genetic discoveries into clinical trials. AI is improving predictions of regulatory elements and variant effects, particularly in the non-coding genome. The panel sees promise in AI-assisted variant prioritization while emphasizing the need for human oversight. Long-read sequencing and longer DNA synthesis may enable larger-scale genome engineering, high-throughput screening, and the study of combinatorial effects. Publishing advice: write early and alongside experiments. Doing so can reveal missing controls, incomplete notes, or gaps in the research while they’re still easy to address. Writing is a way of thinking, not just a way of documenting completed work. For computational research, documenting tools, parameters, and steps as you work can provide a strong foundation for the methods section. Sharing drafts with collaborators and readers from different backgrounds can improve clarity and help catch overlooked issues. Don’t wait for a perfect first draft before asking for feedback. Panelists discuss longer publication timelines and the strain they can place on trainees, as well as the challenge of finding enough qualified peer reviewers. Early-career researchers may be able to contribute to peer review, particularly with support from more experienced researchers. The publishing perspective shared in the discussion allows AI for language editing, but not for generating scientific insights; the panel also raises concerns about the quality of AI-heavy review papers. Authors can prepare for peer review by anticipating likely questions, addressing relevant alternative methods and analyses, and explaining limitations in the manuscript. Starting early, outlining the paper, and acknowledging potential reviewer concerns can help strengthen submissions and make revisions more efficient.   ASHG 2026 Sessions & Events Mentioned Wiley's Advanced Portfolio × DNA Today Brunch Discussion — Thursday, October 22. Moderated by Kira Dineen, featuring Yuming Hu, Nadav Ahituv, and Br

  3. Oct 16

    #416 How Baby KJ Became the First Patient Treated With Personalized CRISPR

    CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics. In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations. From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient. Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment. Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model. This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation.  Episode Discussion Topics: The 2018 announcement of the world’s first CRISPR-edited babies in China Why He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlash The difference between editing embryos and germline cells versus editing somatic cells in a patient What the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technology How the field of CRISPR medicine has evolved since 2018 How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular disease Using CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterol The development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery disease The possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatments How cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiency What CPS1 deficiency is and why it can become life-threatening shortly after birth How Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatment Why KJ’s specific genetic variant was a candidate for base editing How base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNA Developing a gene-editing therapy specifically for a single patient Delivering the gene editor to liver cells using lipid nanoparticles Why the liver is an especially promising target for in vivo gene-editing therapies The collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possible Navigating FDA review for a therapy that had never previously been given to a human Why KJ received multiple doses of the therapy Early signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medication Why researchers are careful not to describe KJ’s treatment as a cure The importance of long-term monitoring for both effectiveness and potential safety concerns Evaluating off-target editing and other potential risks of personalized gene-editing therapies Whether creating an individual therapy for a single patient can realistically become scalable Moving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variants How regulatory frameworks may need to evolve for personalized genetic medicines Which other rare genetic diseases could potentially benefit from this approach What Baby KJ’s story could mean for the future of precision medicine and gene editing About Dr. Kiran Musunuru Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center for Inherited Cardiovascular Disease, and Co-Director of the Penn Medicine/Children’s Hospital of Philadelphia Orphan Disease Center. Dr. Musunuru is a practicing cardiologist and physician-scientist whose research focuses on using genetics and gene-editing technologies to develop new treatments for cardiovascular, metabolic, and rare genetic diseases. He has also written extensively about the ethical and scientific implications of human genome editing, including the CRISPR babies controversy in his book The CRISPR Generation.  Along with Dr. Rebecca Ahrens-Nicklas and a large multidisciplinary team, Dr. Musunuru helped lead the development of the world’s first personalized CRISPR gene-editing therapy for Baby KJ. Their work was published in The New England Journal of Medicine in 2025. Baby KJ and Personalized Gene Editing KJ Muldoon was born with severe CPS1 deficiency, a rare urea cycle disorder caused by pathogenic variants in the CPS1 gene. Without adequate CPS1 enzyme activity, the body cannot efficiently process nitrogen generated from protein metabolism, which can lead to dangerously high ammonia levels. Researchers designed a customized CRISPR base-editing therapy targeting KJ’s specific disease-causing variant. The editor was delivered to the liver using lipid nanoparticles. KJ received multiple infusions of the personalized therapy. Researchers have reported that he has been able to consume more dietary protein, requires less nitrogen-scavenging medication, and has demonstrated improved metabolic stability. Researchers continue to monitor KJ closely to understand the therapy’s long-term safety, durability, and clinical benefit. Resources Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease Musunuru K, et al. New England Journal of Medicine. Published May 2025. The landmark publication describes the development and initial clinical results of KJ’s personalized base-editing therapy.  The CRISPR Generation: The Story of the World’s First Gene-Edited Babies By Kiran Musunuru examines the science and ethical failures surrounding the creation of the first CRISPR-edited babies and what the case means for the future of human genome editing. “Chinese researcher claims first gene-edited babies” in the Associated Press The original article broke the news that the Chinese scientist He Jiankui had used CRISPR to edit human embryos, resulting in the birth of the world’s first gene-edited babies.  “In Vivo Base Editing of PCSK9 with VERVE-102 for Hypercholesterolemia” Recent paper co-authored by Dr. Musunuru in The New England Journal of Medicine regarding people carrying loss-of-function variants of proprotein convertase subtilisin–kexin type 9 (PCSK9) have reduced levels of low-density lipoprotein (LDL) cholesterol and fewer atherosclerotic cardiovascular disease events than persons without such variants. VERVE-102 is an investigational base-editing therapy designed to durably inactivate PCSK9 in the liver. Children’s Hospital of Philadelphia: The Future of Personalized Medicine is Here: KJ’s Story Learn more about KJ, his family, and the multidisciplinary team that developed his personalized treatment. Penn Medicine: World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy Overview of the science behind the treatment and the collaboration required to bring it into the clinic. Penn Medicine/CHOP Orphan Disease Center Dr. Musunuru serves as Co-Director of the center, which works to advance research and therapeutic development for rare diseases. AGBT Precision Health  We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations.  The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location.  Relevant DNA Today Episodes #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 & #289 Part 2 Victoria Gray shares her experience living with sickle cell disease before becoming the first person treated with the CRISPR therapy that would later become Casgevy.   #343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure Joe Jackson shares his family’s effort to develop a personalized CRISPR therapy for his son William, who has Duchenne muscular dystrophy.   #198 CRISPR Ethics with Sam Sternberg Dr. Sam Sternberg explores the scientific, ethical, and regulatory questions surrounding CRISPR gene editing.   #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine Drs. Eric Green and Sarah Tishkoff join our host Kira Dineen for our annual recap and

  4. Oct 9

    #415 Achondroplasia Treatment Advances with Dr. Ravi Savarirayan

    Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States.  In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology. In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use. This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families. We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies. Thank you to BridgeBio for sponsoring this episode. Episode Discussion Topics How the achondroplasia treatment landscape has evolved in the last seven years How achondroplasia affects more than height How current and investigational therapies target FGFR3 signaling in different ways What annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trials Key findings from the Phase 3 PROPEL 3 study of investigational infigratinib What researchers can and cannot yet predict about final adult height based on current data Why body proportionality may be an important clinical and functional outcome How researchers are evaluating potential effects on mobility, reach, independence, and daily activities The long-term safety questions that remain when treatment begins in childhood Why results from separate achondroplasia trials should not be compared directly How families and healthcare providers can weigh treatment benefits, risks, administration, and personal goals What is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling Our Guest: Dr. Ravi Savarirayan Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA).    Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow. Resources BridgeBio Achondroplasia Program Learn more about achondroplasia, FGFR3 biology, and BridgeBio’s clinical development program evaluating infigratinib. BridgeBio Achondroplasia Clinical Trials Information about the PROPEL clinical trials for infigratinib.  “Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia” The article that Dr. Ravi mentioned in the episode that was published June 28, 2026 in The New England Journal of Medicine.  Little People of America A nonprofit organization offering community, education, advocacy, events, and resources for people with dwarfism and their families. Relevant DNA Today Podcast Episodes Episode 401: The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan Dr. Savarirayan first appearance on the show where he explains how the first approved precision treatment for achondroplasia works and discusses international consensus recommendations for counseling families, initiating treatment, monitoring outcomes, and considering when treatment may be discontinued. Episode 386: Achondroplasia Beyond Height: Managing Lifelong Medical Needs Dr. Ricki Carroll discusses the medical complications associated with achondroplasia, the importance of coordinated multidisciplinary care, and why lifelong management must address much more than linear growth. Episode 359: Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains Dr. Janet Legare reviews the genetics, diagnosis, clinical features, medical management, and family counseling considerations associated with achondroplasia. Episode 301: Dwarfism with Colleen Gioffreda Colleen Gioffreda shares her experience living with achondroplasia, raising children with achondroplasia, navigating healthcare, building community, and challenging misconceptions about dwarfism. Episode 192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer Actor Atticus Shaffer discusses living with osteogenesis imperfecta, growing up in the entertainment industry, misconceptions about genetic conditions and short stature, and what he wants healthcare professionals to understand. Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.  Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.  Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

  5. Oct 2

    #414 How To Find Genetics Professionals Worldwide: The Global Genetics Directory

    When patients relocate or relatives living abroad need cascade testing, finding a qualified genetics professional in another country can be surprisingly difficult. The new Global Genetics Directory aims to change that through a free, verified, peer-to-peer resource connecting genetics and genomics professionals worldwide. In this episode of DNA Today, recorded in person at our studio, host Kira Dineen is joined by genetic counselor Monisha Sebastin, Founder and Principal Investigator of the Global Genetics Directory. Monisha explains how her international background and leadership within the genetics community revealed the need for a centralized global resource. We explore how the directory was developed with support from the prestigious Audrey Heimler Special Projects Award, how professionals are verified across different credentialing systems, and why the team chose a closed, consent-based model rather than a publicly searchable directory. Monisha also shares how the directory could strengthen cross-border patient care, cascade testing, professional collaboration, and access to genetics services around the world. Episode Discussion Topics Why finding genetics professionals in other countries can be challenging How Monisha’s experiences in India and the United States shaped her perspective on global access When international connections are especially important for patient care and cascade testing What genetics professionals around the world said they needed from a global directory How NSGC’s Audrey Heimler Special Projects Award supported the project How registration, credential verification, and directory searches work Why eligibility is limited to credentialed genetics and genomics professionals How the directory accommodates differences in professional titles, credentials, and scopes of practice Why membership is free The benefits of a closed, peer-to-peer, and consent-based model How patients seeking care abroad can work with their current providers The team’s vision for expanding the directory and strengthening international collaboration About Monisha Sebastin Monisha Sebastin, MS, LCGC, is the Founder and Principal Investigator of the Global Genetics Directory. She is also a senior pediatric genetic counselor in New York City, where she specializes in cardiogenetics and research. Monisha grew up in India and earned her undergraduate degree in genetic engineering before completing her genetic counseling training at Sarah Lawrence College. Her international background, clinical experience, and leadership within the global genetic counseling community helped inspire the development of the Global Genetics Directory. The directory was developed with support from the Audrey Heimler Special Projects Award for Monisha’s project, “Evaluating International Genomics Providers’ Needs and Perspectives on a Global Genomics Services Directory.” Resources & Links Global Genetics Directory To email directly, contact@globalgeneticsdirectory.com  National Society of Genetic Counselors (NSGC) NSGC’s Audrey Heimler Special Projects Award Find A Genetic Counselor Directory  Relevant DNA Today Podcast Episodes #109 Shenela Lakhani on Genetic Counseling in Qatar — Hear from Qatar’s first certified genetic counselor about establishing the profession in a new country and adapting counseling across cultures. #110 Gattaca, 22 Years Later with Catherine Mayo and Ale Cantu — Catherine Mayo’s first DNA Today appearance examines the film’s enduring relevance to genetic counseling, reproductive decision-making, and genetic discrimination. #114 Matt Burgess on Australasian Genetic Counseling — Explore genetic counseling education, certification, private practice, and healthcare delivery in Australia and across the Australasian region. #212 NSGC Recap 2022 — Meet Monisha and learn about the clinical care and compassion that earned her the Heart of Genetic Counseling Award, along with her work supporting international genetic counselors. #221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels — Learn how genetic counseling is practiced and taught in South Africa, including barriers to expanding services and differences between its public and private healthcare systems. #259 NSGC 2023 Recap and Reflections with Catherine Mayo — Catherine Mayo returns to the show to discuss major themes and takeaways from the genetic counseling profession’s annual conference. #269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci — Meet the Global Genetics Directory’s web developer and site architect and hear how computer vision can support the diagnosis of genetic conditions. #286 Qatar Genome Program with Dr. Said Ismail — Explore the Middle East’s largest population-based genome initiative and its work to improve the representation of Qatari and Arab populations in genomic research. #311 Mock Cancer Genetic Counseling Session with Catherine Mayo — Hear Catherine Mayo demonstrate cancer risk assessment, genetic testing education, and patient-centered counseling in a simulated session. #351 Mock Cardiac Genetic Counseling Session with Monisha Sebastin — Hear Monisha demonstrate her cardiogenetics expertise and counseling approach during a simulated session involving a family history of sudden death. Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.  Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.  Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

  6. Sep 25

    #413 PKU Beyond the Diet: Food, Mental Health, and Daily Life

    For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel. This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker. This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future. In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food. Joining us are a mother and daughter who have experienced that journey together: Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU. Lillian Isabella is a playwright, advocate, and graduate student in Columbia University's Narrative Medicine program who served six years on the National PKU Alliance board and lives with PKU. She is Dr. Brown's daughter.  Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice.    Episode Discussion Topics What a “low-protein diet” actually requires for someone living with PKU How protein and phenylalanine tolerance are determined and monitored over time The work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foods Dr. Brown’s experience learning to treat feeding her newborn as a form of medical care Raising two daughters with PKU and balancing dietary management with everyday family life Lillian’s relationship with PKU formula and medical shakes throughout different stages of life How elevated phenylalanine levels can affect focus, energy, mood, and daily functioning Navigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situations When Lillian first became aware that she ate differently from her peers How constant food monitoring can influence a person’s emotional relationship with eating PKU-related frustration, burnout, anxiety, guilt, and resentment How language used by clinicians can shape a child’s identity and relationship with their condition Transitioning from parent-managed PKU care to greater independence in adolescence and adulthood Returning to metabolic care after time away Lillian’s experience turning her lived experience with PKU into advocacy Advice for parents who have just learned their baby has PKU How guidance and support may change through early childhood, adolescence, and adulthood Dr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier Resources & Links When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer Brown PKU / Phenylketonuria Phenylalanine hydroxylase deficiency ACT Sheet The Newborn Screening Information Center (NBSIC) Recommended Uniform Screening Panel, or RUSP RUSP overview for families ACMG Newborn Screening ACT Sheets and Algorithms Baby’s First Test: Newborn Screening Information National PKU Alliance Relevant DNA Today Podcast Episode Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future.   Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.  Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.  Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

  7. Sep 18

    #412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

    Prenatal cell-free DNA screening is designed to assess a pregnancy for chromosome conditions; but in rare cases, it can reveal something entirely unexpected about the pregnant patient’s own health. In this episode, Kira Dineen is joined in-person by Dr. Diana Bianchi to explore how unusual or non-reportable cfDNA screening results can sometimes be a signal of an undiagnosed maternal cancer. Dr. Bianchi shares findings from the NIH’s ongoing IDENTIFY study, which is investigating why these unexpected cfDNA patterns occur, how clinicians can distinguish potential malignancy from other explanations, and what should happen next when a prenatal screening result raises concern about maternal cancer. We recorded this episode in person at AGBT Precision Health, one of our favorite conferences of the year. The conference wrapped this past Wednesday and brought together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. We already put it on our calendars!    In This Episode, We Discuss: What “non-reportable” or “uninterpretable” cfDNA results actually mean How unusual cfDNA results differ from typical test failures Determining whether an unexpected cfDNA signal originates from the fetus, placenta, or pregnant patient Maternal causes of discordant cfDNA results, including fibroids, clonal hematopoiesis, a demised twin, and malignancy Why tumors can release DNA into the bloodstream that is detected during prenatal screening Why Dr. Bianchi and her colleagues launched the prospective IDENTIFY study in 2019 What participants undergo when they travel to the NIH Clinical Center for evaluation Results from the first 107 IDENTIFY participants, including the 52 participants diagnosed with cancer Why lymphoma is frequently identified through these unusual cfDNA patterns Chromosomal patterns that are particularly suspicious for malignancy Why gains and losses involving three or more chromosomes can be an important warning sign Why symptoms, physical examinations, and routine bloodwork may not reliably identify patients with occult cancer The role of rapid whole-body MRI in evaluating patients for malignancy Approaches clinicians can consider when whole-body MRI is not readily available Diagnosing and treating cancer during pregnancy What researchers have learned from participants whose evaluation does not identify cancer How the IDENTIFY study has expanded since its original published cohort How laboratories should report cfDNA patterns that may suggest maternal malignancy The need for professional society guidelines for clinicians receiving these unusual results What genetic counselors, OB/GYNs, and maternal-fetal medicine specialists should do when they receive a concerning non-reportable NIPS result About Dr. Diana Bianchi Diana W. Bianchi, MD, is a physician-scientist and a pioneer in noninvasive prenatal genetic testing and fetal cell microchimerism research. She previously served as Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health and was a senior investigator in the Center for Precision Health Research at the National Human Genome Research Institute. Her research has helped define how prenatal cell-free DNA sequencing can unexpectedly identify genomic patterns associated with maternal malignancy. In 2019, Dr. Bianchi and colleagues launched the IDENTIFY Study — Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis — to investigate the biological causes of unusual or non-reportable prenatal cfDNA results and develop evidence-based approaches for identifying patients who may need evaluation for cancer.   IDENTIFY Study The IDENTIFY study is an ongoing prospective study at the NIH Clinical Center evaluating pregnant and postpartum individuals who received unusual or non-reportable prenatal cfDNA sequencing results (also known as non-invasive prenatal screening or testing, NIPS or NIPT).  The first major results from IDENTIFY were published in The New England Journal of Medicine in December 2024. Among the first 107 participants evaluated, 52 (48.6%) were diagnosed with cancer. Researchers also found: Rapid whole-body MRI had 98% sensitivity and 88.5% specificity for detecting occult cancer. Physical examination and routine laboratory testing had limited ability to distinguish participants with cancer. Among participants whose research cfDNA sequencing showed both copy-number gains and losses involving three or more chromosomes, 47 of 49 (95.9%) had cancer. Other unusual cfDNA patterns can have nonmalignant explanations, reinforcing that a non-reportable result does not automatically mean cancer. Resources NIH IDENTIFY Study Learn more about the ongoing Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis study through the National Human Genome Research Institute. Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer Turriff AE, Annunziata CM, Malayeri AA, et al. New England Journal of Medicine. Published December 2024. Thalidomide History & Impact via UK Science Museum  Thalidomide changed our relationship with new medicines forever. It took five years for the connection between thalidomide taken by pregnant people and the impact on their children to be made including limb differences. Not only did thalidomide change people’s lives, but it resulted in tighter drug testing and reporting of side-effects and, as our guest Dr. Bianchi points out, more fear surrounding malpractice when treating people who are pregnant.  The Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health (NICHD) Task Force on Research Specific to Pregnant Women and Lactating Women (PRGLAC) Implementation Working Group of Council Connecticut Genetic Counselor’s Association (CTGCA) Our host Kira Dineen attended a session at one of the annual conferences where she learned more about the IDENTIFY Study. The 2026 conference will take place the evening of Thursday October 15th and all day Friday October 16th, join Kira by registering here. Disclaimer that Kira is on the Board of Directors and designed the new website, so this is a bias, but informed recommendation.   Colorectal Cancer Rates Are Skyrocketing in Young Adults — Is Your Lifestyle Putting You at Risk? Via Cancer Research Institute  Once considered a disease of older age, colorectal cancer is rising at an alarming rate in younger adults. Today, 1 in 5 diagnoses occurs in someone under the age of 55 — and it has become a leading cause of cancer-related death in young people. Coexistence of pregnancy and malignancy.  Pavlidis NA. Oncologist. 2002;7(4):279-87. Erratum in: Oncologist 2002;7(6):585. PMID: 12185292. Chemotherapy safe during pregnancy in second and third trimesters. Starr P. Value-Based Cancer Care. 2015 Nov;6(10). Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies.  Lenaerts L, Brison N, Maggen C, Vancoillie L, Che H, Vandenberghe P, Dierickx D, Michaux L, Dewaele B, Neven P, Floris G, Tousseyn T, Lannoo L, Jatsenko T, Bempt IV, Van Calsteren K, Vandecaveye V, Dehaspe L, Devriendt K, Legius E, Bogaert KVD, Vermeesch JR, Amant F. EClinicalMedicine. 2021 May 13;35:100856. doi: 10.1016/j.eclinm.2021.100856. PMID: 34036251; PMCID: PMC8138727. American College of Medical Genetics and Genomics (ACMG)  The International Society for Prenatal Diagnosis (ISPD)   National Comprehensive Cancer Network (NCCN) AGBT Precision Health  We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations.  The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location.   Relevant DNA Today Episodes #358 AGBT Precision Health 2025 Meeting Recaps and Reflections Drs. Christine Eng, Eric Green, and Marina Sirota share highlights from last year’s AGBT Precision Health meeting, including advances in genomic medicine, rare disease diagnostics, and precision health. #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions Dr. Fred Ushakov explores how noninvasive prenatal testing is evolving beyond traditional chromosome screening and the role of single-gene NIPT. #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Explore how cfDNA technology is being used to screen pregnancies for certain single-gene conditions. #180 Reproductive DNA Testing with Mitera This episode explores reproductive genetic testing, including carrier screening and cell-free DNA screening for common chromosome conditions during pregnancy. #317 Prenatal Mock Genetic Counseling Session Follow a mock prenatal genetic counseling appointment covering NIPS, diagnostic testing, ultrasound findings, and prenatal screening options. #368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency A mock genetic counseling session exploring an increased nuchal translucency finding, prenatal genetic testing options, and counseling after an abnormal ultrasound result.   Connect with

  8. Sep 11

    #411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

    What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic Counseling Session Series! In this episode, cancer genetic counselor Connor Linehan and genetic counseling student Edith Atwerebour perform a mock cancer genetic counseling session. Edith plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose tumor showed loss of the MSH2 and MSH6 proteins. Although this tumor result raises suspicion for Lynch syndrome, it does not confirm that Patricia has an inherited cancer predisposition. Through this simulated session, Connor explains the difference between tumor and germline testing, reviews the pattern of cancer in Patricia’s family, and discusses how genetic testing could inform her future medical care and clarify cancer risks for her relatives. Patricia is particularly concerned about her kids. The session demonstrates how genetic counselors address the emotional impact of a possible hereditary cancer condition while explaining why testing and cancer screening are generally not recommended for children when the associated risks begin in adulthood. Previous installments of this series have explored prenatal, pediatric, cardiovascular, cancer, and teratogen genetic counseling. We hope these sessions help prospective and current genetic counseling students, and the general public, better understand what happens during a genetic counseling appointment. The Actors Connor Linehan, MS, LCGC is a board-certified genetic counselor in Connecticut specializing in cancer. He helps patients and families understand inherited cancer risks, genetic testing options, and how test results may affect medical management and relatives. He is also a Clinical Instructor at a genetic counseling graduate program. Connor is the President of The Connecticut Genetic Counselor Association. (Fun fact, our host Kira Dineen designed this new website!)  Edith Atwerebour, MPH is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose abnormal tumor testing raises concern for Lynch syndrome. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today. Edith also appeared in the previous installment of this series, #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin, in which she played Denise, a pregnant patient seeking information about several medication exposures. Mock Session Overview Establishing the purpose and structure of a cancer genetic counseling appointment Reviewing Patricia’s colon cancer diagnosis, treatment, and current health Addressing Patricia’s concerns about her children early in the session Constructing and evaluating a three-generation cancer family history Identifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancers Explaining how genes normally help protect the body from developing cancer Sporadic, familial, and hereditary explanations for cancer The function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 How immunohistochemistry evaluates mismatch repair protein expression in a tumor Why loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genes The difference between tumor testing and germline genetic testing Why abnormal tumor testing does not independently establish a Lynch syndrome diagnosis How genetic changes confined to a tumor differ from inherited germline variants Why Patricia is the most informative person in her family to test first The option of using a multigene hereditary cancer panel Possible genetic testing results: positive, negative, and a variant of uncertain significance What each potential result could mean for Patricia and her relatives Why inheriting a pathogenic variant increases cancer risk but does not guarantee cancer Why Patricia’s children would generally wait until adulthood for genetic testing How a positive result could affect Patricia’s colon cancer surveillance Other Lynch-associated cancer risks, including endometrial, ovarian, gastric, pancreatic, urinary tract, and additional cancers How screening and risk-reducing options vary by the gene involved Cascade testing for Patricia’s mother, children, and other relatives if a familial variant is identified Genetic testing through a blood or saliva sample The expected turnaround time and how results would be reviewed Patricia’s decision about whether to proceed with germline genetic testing Lynch Syndrome Resources About Lynch Syndrome—Centers for Disease Control and Prevention Genetic Testing for Lynch Syndrome—Centers for Disease Control and Prevention Managing Cancer Risks Associated With Lynch Syndrome—Centers for Disease Control and Prevention Lynch Syndrome—GeneReviews Lynch Syndrome—MedlinePlus Genetics Lynch Syndrome Information and Support—FORCE American Cancer Society: Genetic Testing, Screening, and Prevention for Colorectal Cancer Find a Genetic Counselor—National Society of Genetic Counselors Global Genetics Directory Relevant DNA Today Podcast Episodes #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst shares her experience with Lynch syndrome, genetic testing, risk-reducing surgery, and hereditary cancer advocacy. #43 Lynch Syndrome — Explore the genes associated with Lynch syndrome, related cancer risks, inheritance, genetic testing, and risk-reduction options. #25 Interview with Hereditary Cancer Experts — Georgia Hurst, Amy Byer Shainman, and Ellen Matloff discuss Lynch syndrome, hereditary breast and ovarian cancer, and other hereditary cancer syndromes, patient advocacy, and the importance of genetic counseling. #291 AFAP with Advocate Dan “Dry Dock” Shockley — Dan Shockley shares his experience with attenuated familial adenomatous polyposis (aFAP), colonoscopy screening, genetic testing, and continuing Dr. Henry Lynch’s legacy. #311 Mock Cancer Genetic Counseling Session — The first installment in this series demonstrates cancer genetic counseling for an unaffected patient with a family history of breast, ovarian, pancreatic, and prostate cancers. 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 Translucency Episode #373: Pediatric Session for an Abnormal Cystic Fibrosis Newborn Screening Result Episode #406: Prenatal Session for Medications/Teratogens during Pregnancy (Ozempic, Zoloft, Xanax, and Metformin)  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. Cancer risks, screening recommendations, and risk-reducing options vary based on the individual, gene, personal medical history, and family history. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor or another qualified healthcare provider who can provide individualized medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. If you are a genetic professional yourself and looking for a a colleague outside the US, we recommend GlobalGeneticsDirectory.org  Connect with DNA Today You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.  Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.  Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

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Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For 14 years, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best Science and Medicine Podcast Award Winner (2020, 2021 and 2022)*** Learn more (and stream all 400+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com. This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows. 

Information

  • Creator
    Kira Dineen, Gene Pool Media
  • Years Active
    2017 - 2026
  • Episodes
    419
  • Rating
    Clean
  • Copyright
    © DNA Today, LLC 2012-2026
  • Show Website
    DNA Today: A Genetics Podcast

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