• 29 minutes 37 seconds
    #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
      • 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 reflection on the biggest genetics/genomics advancements this year! Kira’s top pick was this story of Baby KJ. 

     

    #399: PKU and the History of Newborn Screening

    In the first installment of our PKU series, we explore how the condition helped launch newborn screening and why early diagnosis can dramatically change a child’s future.

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

    In the second installment of our PKU series, Dr. Jennifer Brown and her daughter Lillian Isabella explore the realities of PKU, from food and family life to mental health and independence. 

    #412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

    Dr. Diana Bianchi discusses unexpected maternal findings from prenatal cell-free DNA screening. This was also recorded in-person at AGBT Precision Health 2026. 

    #141 Stan Crooke on Developing “n of 1” Treatments for Nano Rare Disease 

    Biotech titan Dr. Stan Crooke, who developed 20+ drugs, shares about his new n-Lorem Foundation, which develops ASO treatment for conditions affecting less than 30 people in the world. 

    #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care

    Two UCD experts, Holly Bernal and Laurie Bernstein, share how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs.

    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 [email protected].

    16 October 2026, 9:00 am
  • 1 minute 53 seconds
    #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 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 [email protected].

    9 October 2026, 9:00 am
  • 27 minutes 49 seconds
    #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 Relevant DNA Today Podcast Episodes 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 [email protected].

    2 October 2026, 9:00 am
  • 36 minutes 25 seconds
    #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
    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 [email protected].

    25 September 2026, 9:00 am
  • 36 minutes 49 seconds
    #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
        • 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. 
        • 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.
    • Pavlidis NA. Oncologist. 2002;7(4):279-87. Erratum in: Oncologist 2002;7(6):585. PMID: 12185292.
        • 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.
    • 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 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 [email protected].

    18 September 2026, 9:00 am
  • 30 minutes 30 seconds
    #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 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
    1. Episode #311: Cancer Session for Breast and Prostate Cancer Family History
    2. Episode #317: Prenatal Session for Advanced Maternal Age
    3. Episode #331: Pediatric Session for Autism
    4. Episode #351: Cardio Session for Sudden Death of a Family Member
    5. Episode #368: Prenatal Session for Increased Nuchal Translucency
    6. Episode #373: Pediatric Session for an Abnormal Cystic Fibrosis Newborn Screening Result
    7. 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 [email protected].

    11 September 2026, 9:00 am
  • 43 minutes 37 seconds
    #410 Gypsy Rose Blanchard’s 1q21.1 Microdeletion: What Does It Explain?

    This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean.

    Gypsy Rose Blanchard’s medical history has been scrutinized for years. Throughout her childhood, her mother, Dee Dee Blanchard, presented her as having numerous serious medical conditions, resulting in medications, procedures, mobility aids, and countless medical appointments. In 2015, Dee Dee was murdered by Gypsy’s then-boyfriend in a crime Gypsy helped plan.

    The case has since inspired documentaries, television series, podcasts, and an enormous amount of online speculation. But one part of Gypsy’s medical history has received relatively little attention: a chromosomal microdeletion identified through genetic testing.

    In this special episode drop, we are sharing the fifth installment of “The Gypsy Rose Obsession,” an investigative series from the PRETEND podcast hosted by Javier Leiva. The first four episodes explore the online community that continues to investigate, debate, and develop competing theories about nearly every aspect of Gypsy’s life. We recommend listening to those episodes first for the full context behind the people, records, and claims discussed in this installment.

    Episode five turns its attention to Gypsy’s reported 1q21.1 microdeletion. DNA Today host and certified genetic counselor Kira Dineen joins Javier as a genetics expert to examine the available records and explain the complexities of interpreting this finding.

    Kira breaks down chromosomes using a genomic-library analogy, explains how a chromosomal “address” such as 1q21.1 is read, and puts the reported deletion size into perspective. She also compares a traditional karyotype with a chromosomal microarray and explains how a deletion can be too small to detect through one form of testing but identifiable through another.

    What can the microdeletion tell us about Gypsy’s health? Why might her earlier clinical notes and a later laboratory report describe the finding differently? Could the deletion explain claims involving paralysis, leukemia, or the need for a feeding tube? Most importantly, how do we distinguish a possible genetic association from evidence that a particular finding caused someone’s medical, psychiatric, or behavioral features?

    This episode discusses medical child abuse, violence, and murder. Please take care while listening.

    Episode Discussion Topics
    • What genetic counselors do and how they help patients understand genetic testing
    • Chromosomes, genes, and microdeletions explained through a genomic-library analogy
    • How to interpret the chromosomal address “1q21.1”
    • What it means to have a piece of chromosome 1 missing
    • Putting the size of the deletion into perspective
    • Why the size of a genetic change does not always predict its medical impact
    • The wide spectrum associated with 1q21.1 microdeletions, ranging from no apparent features to developmental and congenital differences
    • How two people with the same or similar deletion can be affected very differently
    • Why identifying the deletion does not mean someone will develop every associated condition
    • Possible developmental, neurological, physical, and behavioral features reported with 1q21.1 microdeletions
    • The difference between a genetic risk factor and a diagnosis or prediction
    • Whether paralysis, leukemia, or feeding-tube use are associated with this deletion
    • Why a genetic finding should not automatically be used to explain every aspect of someone’s medical or behavioral history
    • The limitations of interpreting genetic information without a complete medical evaluation and family history

    The information presented in this episode is intended for education and discussion and should not be considered individualized medical advice. Genetic test results should be interpreted by a qualified healthcare professional in the context of the individual’s complete medical and family history.

    Resources & Links Relevant DNA Today Podcast Episodes True Crime and Forensic Genetics 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 [email protected].

    4 September 2026, 9:00 am
  • 43 minutes 17 seconds
    #409 How DNA Testing Exposed the Dark History of American Adoption

    What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades?

    This week, we are sharing an episode of DNA Clarity and Support, the newest podcast to join the Gene Pool Media network. Host and genetic counselor Brianne Kirkpatrick Williams speaks with New York Times bestselling author and journalist Gabrielle Glaser about her book, American Baby: A Mother, a Child, and the Shadow History of Adoption.

    American Baby follows Margaret Erle Katz, who became pregnant as a teenager in 1961, and the son she was pressured to relinquish for adoption. That child, later named David Rosenberg, grew up without access to his biological family or family medical history. Decades later, while experiencing serious health problems, David used direct-to-consumer DNA testing to identify his birth family and discovered that the story he had believed about his adoption was not true.

    Through David and Margaret’s experiences, Gabrielle exposes the coercion, secrecy, and stigma that shaped the postwar adoption industry, and explores why access to original birth records, genetic relatives, and family health history remains so important.

    On This Episode, We Discuss:
    • How Gabrielle met David while reporting on his kidney transplant
    • How DNA testing connected David with his biological family
    • What David discovered about his birth parents’ efforts to keep him
    • How sealed adoption records restrict access to identity and family medical history
    • Stigma, coercion, and secrecy in postwar American adoption
    • Unethical research conducted on infants awaiting adoption
    • The emotional complexity of unexpected biological connections and family reunions
    • Privacy concerns surrounding commercial DNA databases
    • Support resources for adoptees and others navigating DNA discoveries
    • Margaret’s journey from decades of secrecy to adoptee-rights advocacy
    About Gabrielle Glaser

    Gabrielle Glaser is a New York Times bestselling author and journalist whose work on mental health, medicine, addiction, and culture has appeared in The New York Times Magazine, The New York Times, and many other publications.

    Her fourth book, American Baby: A Mother, a Child, and the Shadow History of Adoption, examines the history of adoption in post–World War II America through the story of one family separated by the country’s secretive and coercive adoption system.

    Learn more about Gabrielle and her work on her website.

    About Brianne Kirkpatrick Williams

    Brianne Kirkpatrick Williams is a licensed and certified genetic counselor, genealogist, author, and the founder of Watershed DNA. She provides support and guidance for people navigating DNA testing, family searches, adoption, donor conception, misattributed parentage, and unexpected biological relationships. Brianne is also the co-author, with Shannon Combs-Bennett, of The DNA Guide for Adoptees. 

    About DNA Clarity and Support

    DNA Clarity and Support explores the personal and familial impacts of DNA testing. Brianne speaks with authors, advocates, and leaders about family searches, unexpected discoveries, identity, medical history, and the resources available to people navigating the rapidly changing world of consumer DNA testing.

    DNA Clarity and Support is produced by Watershed DNA and is part of the Gene Pool Media podcast network. Subscribe wherever you listen to podcasts.

    Resources

    Editor’s note: This conversation was originally recorded in 2022. Laws governing adoptee access to original birth certificates have continued to change since then. 

    As of July 2026, according to the Adoptee Rights Law Center, adult adopted people in seventeen states currently have an unrestricted right to obtain copies of their own pre-adoption original birth records without discriminatory restrictions. These maps categorize US states into three primary groups: Unrestricted, Compromised, and Restricted, with definitions and numbers below. A list of states and restrictions is also available, as well as a changelog to the map over time.

    Relevant DNA Today Episodes Connect

    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 [email protected].

    28 August 2026, 9:00 am
  • 37 minutes 46 seconds
    #408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia

    Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later in life. With symptoms spanning multiple body systems and varying across the lifespan, how can clinicians recognize when these seemingly disconnected findings may point to HPP?

    In the first episode of our three-part series on hypophosphatasia, we are joined by genetic counselor Amy Patterson to explore the clinical spectrum and diagnosis of HPP. Amy explains what happens biologically in HPP, why traditional age-based classifications do not always capture its variability, and how the condition may present from the prenatal period through adulthood.

    We also discuss the importance of persistently low alkaline phosphatase (ALP), including why results must be interpreted using age- and sex-appropriate reference ranges. Amy reviews the additional laboratory findings, medical and dental histories, imaging, physical examination, and molecular testing that may contribute to a diagnosis. She also highlights common misdiagnoses and the clinical clues that should prompt healthcare providers to consider HPP.

    Episode Discussion Topics
    • What hypophosphatasia is and how impaired mineralization affects the body
    • The perinatal, infantile, childhood, adult, and odonto forms of HPP
    • Prenatal and infantile presentations of severe HPP
    • Clinical and dental signs in children
    • Fractures, chronic pain, fatigue, weakness, and dental concerns in adults
    • How manifestations may change throughout a person’s lifetime
    • Variability among relatives with the same familial ALPL variants
    • Common diagnostic delays and misdiagnoses
    • Distinguishing HPP from other causes of rickets and skeletal abnormalities
    • Differentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgia
    • The importance of persistently low ALP and appropriate reference ranges
    • Alternative explanations for a low ALP result
    • The HPP International Working Group
    • The roles of laboratory testing, radiographs, dental records, and medical history
    • When molecular testing of the ALPL gene may be appropriate
    • Whether HPP can be diagnosed without an identified pathogenic or likely pathogenic ALPL variant
    About the Guest

    Amy Patterson, MS, CGC, is a licensed, board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She works with pediatric and adult patients in the general genetics clinic and the Greenberg Center for Skeletal Dysplasias, including individuals and families affected by hypophosphatasia.

    About the 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   Relevant DNA Today Episodes 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 [email protected].

    21 August 2026, 9:00 am
  • 39 minutes 47 seconds
    #407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis

    What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career?

    Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attributing carpal tunnel syndrome, trigger finger, back problems, joint and tendon injuries, neuropathy, and other health concerns to football, aging, and ordinary wear and tear. Even when he developed atrial fibrillation, Art’s lifelong discipline and athlete mentality made him believe he could manage his health on his own.

    Art and his wife, Liz Still, join host Kira Dineen to share how those seemingly disconnected symptoms were eventually traced to hereditary transthyretin amyloidosis, also known as hereditary ATTR or hATTR amyloidosis.

    During evaluations through the NFL Player Care Foundation wellness program, Art’s healthcare providers looked beyond his individual symptoms and asked about his family health history. That conversation revealed a striking pattern: relatives with serious cardiac, neurologic, and mobility-related conditions, including Art’s older brother, who received a heart transplant, and his nephew, who lived with sickle cell disease and had previously tested positive for the same TTR variant.

    Genetic testing confirmed that Art carries the V122I variant, also called p.Val142Ile or V142I, in the TTR gene. This variant is found in approximately 3–4% of Black Americans, or about 1 in 25, although carrying it does not necessarily mean someone will develop amyloidosis.

    For Art and Liz, the diagnosis provided answers, but it also raised questions for their 11 children, 28th grandchild on the way, and extended family. They discuss navigating family conversations about inherited health risks, the value of genetic testing, Art’s evolving trust in healthcare, and why following a treatment plan matters.

    Through their nonprofit, Still 4 Life, Art and Liz now offer free community presentations focused on awareness, earlier detection, family health history, and self-advocacy. Their goal is to make complicated medical information easier to understand and reach people who may otherwise dismiss their symptoms or hesitate to seek care.

    Episode Discussion Topics
    • How Art’s “no pain, no gain” athlete mentality shaped his response to symptoms
    • Why professional athletes may normalize pain and avoid disclosing injuries
    • The symptoms Art initially attributed to football, including carpal tunnel syndrome, trigger finger, back problems, neuropathy, joint and tendon injuries, and a torn biceps
    • Why a torn biceps can be a potential warning sign of transthyretin amyloidosis
    • Liz’s early belief that Art’s symptoms were natural consequences of his football career
    • When Art’s cardiac symptoms caused Liz to realize something else might be happening
    • Art’s history of atrial fibrillation and his initial resistance to medication
    • His evaluations through the NFL Player Care Foundation wellness program
    • The family health history questions that helped connect Art’s seemingly unrelated symptoms
      • His brother’s heart transplant
      • His nephew’s sickle cell disease, amyloidosis, and earlier genetic test result
      • Why Art’s nephew was originally evaluated for Marfan syndrome
    • How genetic testing identified Art’s V122I TTR variant
    • The relief of finally understanding the cause of Art’s health problems
    • How the diagnosis changed conversations with their 11 children and extended family
    • Why family health history may be one of the most valuable legacies a family can preserve
    • The difference between carrying a genetic variant and developing symptoms
    • Why ancestry can help identify risk but should not be used to exclude someone from consideration
    • Art’s mistrust of the medical and pharmaceutical industries, and how his perspective evolved
    • What happened when Art reduced and stopped his heart medication without medical guidance
    • Why finding a healthcare team that explains the purpose of treatment is so important
    • How Liz advocated for Art when she realized he was not following his prescribed treatment plan
    • The importance of asking questions and making healthcare decisions with qualified clinicians
    • How Art uses humor and personal storytelling to make medical information approachable
    • Why Art and Liz founded Still 4 Life
    • Meeting people where they are through free community education
    • Encouraging families to discuss their health history and advocate for one another
    • Turning a hereditary diagnosis into a game plan for a healthier community
    About Hereditary ATTR Amyloidosis

    Hereditary transthyretin amyloidosis is caused by a disease-associated variant in the TTR gene. The variant makes the transthyretin protein more likely to misfold and accumulate as amyloid deposits in organs and tissues.

    Depending on the individual and the specific variant, hereditary ATTR amyloidosis can affect the heart, peripheral nerves, autonomic nervous system, digestive system, kidneys, and other parts of the body. Possible warning signs can include cardiomyopathy, heart failure, irregular heart rhythms, neuropathy, carpal tunnel syndrome, spinal stenosis, tendon injuries, swelling, and digestive symptoms.

    Because these concerns are often evaluated by different specialists, and may be attributed to more common conditions, the underlying diagnosis can be missed for years.

    Art carries the V122I variant, which is also referred to as V142I or p.Val142Ile under current genetic nomenclature. It is particularly prevalent among people with West African ancestry and is found in approximately 3–4% of Black Americans; however, genetic variants do not conform neatly to racial categories. 

    Not everyone who inherits a disease-associated TTR variant develops amyloidosis. Anyone concerned about personal symptoms or family history should discuss appropriate evaluation and testing with a qualified healthcare professional.

    About Art Still

    Art Still is a former NFL defensive end, College Football Hall of Fame inductee, and rare disease advocate. He was selected by the Kansas City Chiefs with the second overall pick in the 1978 NFL Draft and played 12 professional seasons with the Chiefs and Buffalo Bills.

    During his decade in Kansas City, Art earned four Pro Bowl selections and was named the Chiefs’ Most Valuable Player twice. After years of orthopedic, neurologic, and cardiac symptoms, Art was diagnosed with hereditary transthyretin amyloidosis in 2023.

    Art now uses the same team-oriented mindset that shaped his football career to educate communities about amyloidosis, family health history, early detection, and self-advocacy.

    About Liz Still

    Liz Still is Art’s wife, care partner, and advocacy partner. She initially believed that many of Art’s symptoms resulted from his years in professional football. When his cardiac problems became more serious, she recognized that something else might be happening and became an important advocate throughout his diagnostic and treatment journey.

    Following Art’s hereditary amyloidosis diagnosis, Liz helped research the condition, understand its implications for their family, and communicate the information to their children and relatives. She now works alongside Art through Still 4 Life, helping families recognize the importance of asking questions, sharing family health history, and advocating for the people they love.

    Still 4 Life

    Art and Liz founded Still 4 Life to increase awareness and encourage earlier detection of amyloidosis and other rare diseases.

    Through free community presentations, they share Art’s personal experience in approachable language and encourage people to:

    • Learn and document their family health history
    • Discuss patterns of illness with relatives
    • Pay attention to symptoms that may appear unrelated
    • Ask healthcare providers questions
    • Advocate for themselves and their loved ones
    • Learn whether a genetics evaluation may be appropriate
    • Seek medical guidance before changing prescribed treatment

    Community organizations, healthcare professionals, and other groups interested in hosting an educational presentation can connect with Art and Liz through Still4Life.org.

    Resources More Cardiac Genetics Episodes of DNA Today More Celebrity Interviews on DNA Today 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 [email protected].

    14 August 2026, 3:35 pm
  • 30 minutes 34 seconds
    #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin

    This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour perform a mock genetic counseling session. The session indication is medication exposures during pregnancy, including Ozempic®, metformin, Zoloft®, and Xanax®.

    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. 

    The Actors:

    Edith Atwerebour 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 Denise, a 34-year-old woman who is pregnant with her second child and seeking information about medication exposures during pregnancy. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today.

    Sharon Voyer Lavigne, MS, LGC, is a licensed genetic counselor, teratogen information specialist, and Coordinator of MotherToBaby Connecticut. She has worked with MotherToBaby Connecticut for more than 28 years and also serves as its Research Coordinator. Lavigne is a Clinical Instructor in the Division of Human Genetics within the Department of Genetics and Genome Sciences at UConn Health. She teaches and trains genetic counseling students, maternal-fetal medicine fellows, OB/GYN residents, and other healthcare professionals.

    Lavigne received her Bachelor of Science in Biology from Northeastern University and her Master of Science in Human Genetics/Genetic Counseling from Sarah Lawrence College. Through MotherToBaby, she helps patients and healthcare professionals understand the most current evidence about medications and other exposures during pregnancy and breastfeeding.

    Mock Session Overview:
    • How genetic counselors establish the approximately 3% background risk for birth defects before discussing specific exposures
    • Why the timing, dose, frequency, and duration of a medication exposure matter
    • What is currently known, and still unknown, about semaglutide (Ozempic®/Wegovy®) exposure during early pregnancy
    • Why controlling type 2 diabetes may be more important than the medication exposure itself
    • The role of metformin, insulin, maternal-fetal medicine specialists, and diabetes educators during pregnancy
    • What research suggests about sertraline (Zoloft®) use and the risk for structural birth defects
    • How untreated anxiety and depression can also affect maternal and pregnancy health
    • Possible newborn adaptation symptoms following exposure to certain psychiatric medications
    • Why patients should consult their healthcare providers before reducing or discontinuing medication
    • How therapy, family support, and postpartum planning can complement medication management
    • The role of anatomy ultrasounds and fetal echocardiograms in pregnancy monitoring
    • How MotherToBaby helps patients and healthcare providers navigate exposures during pregnancy and breastfeeding

    The central takeaway from the session is that Denise’s reported medication exposures are not expected to place the pregnancy at a significantly greater overall risk. Instead, the primary priorities are improving diabetes control, maintaining her mental health, and coordinating care among her obstetrician and other healthcare providers.

    MotherToBaby Resources:

    MotherToBaby provides free, evidence-based information about medications and other exposures during pregnancy and breastfeeding. Patients and healthcare providers can contact MotherToBaby by phone, text, email, or live chat.

    MotherToBaby Pregnancy and Breastfeeding Fact Sheets

    MotherToBaby: Semaglutide (GLP-1s like Ozempic®, Wegovy®, Rybelsus®)

    MotherToBaby: Metformin (Glucophage®, Glumetza® and Fortamet®) 

    MotherToBaby: Sertraline (Zoloft®)

    MotherToBaby: Alprazolam (Xanax®, Niravam®, Gabazolamine-0.5®)

    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

    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. Medication risks and benefits during pregnancy vary based on the individual, medication, dose, timing, and underlying medical condition.

    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. 

    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. 

    7 August 2026, 9:00 am
  • More Episodes? Get the App