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DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

By: Kira Dineen Gene Pool Media
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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.

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

    #413 PKU Beyond the Diet: Food, Mental Health, and Daily Life
    Sep 25 2026
    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, actor, advocate, and former National PKU Alliance board member who lives with PKU. She is also 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 PKUHow protein and phenylalanine tolerance are determined and monitored over timeThe work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foodsDr. Brown’s experience learning to treat feeding her newborn as a form of medical careRaising two daughters with PKU and balancing dietary management with everyday family lifeLillian’s relationship with PKU formula and medical shakes throughout different stages of lifeHow elevated phenylalanine levels can affect focus, energy, mood, and daily functioningNavigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situationsWhen Lillian first became aware that she ate differently from her peersHow constant food monitoring can influence a person’s emotional relationship with eatingPKU-related frustration, burnout, anxiety, guilt, and resentmentHow language used by clinicians can shape a child’s identity and relationship with their conditionTransitioning from parent-managed PKU care to greater independence in adolescence and adulthoodReturning to metabolic care after time awayLillian’s experience turning her lived experience with PKU into advocacyAdvice for parents who have just learned their baby has PKUHow guidance and support may change through early childhood, adolescence, and adulthoodDr. 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 BrownPKU / PhenylketonuriaPhenylalanine hydroxylase deficiency ACT SheetThe Newborn Screening Information Center (NBSIC)Recommended Uniform Screening Panel, or RUSPRUSP overview for familiesACMG Newborn Screening ACT Sheets and AlgorithmsBaby’s First Test: Newborn Screening InformationNational 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.
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    36 mins
  • #412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer

    #412 How Prenatal cfDNA Can Uncover Undiagnosed Maternal Cancer
    Sep 18 2026
    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 meanHow unusual cfDNA results differ from typical test failuresDetermining whether an unexpected cfDNA signal originates from the fetus, placenta, or pregnant patientMaternal causes of discordant cfDNA results, including fibroids, clonal hematopoiesis, a demised twin, and malignancyWhy tumors can release DNA into the bloodstream that is detected during prenatal screeningWhy Dr. Bianchi and her colleagues launched the prospective IDENTIFY study in 2019What participants undergo when they travel to the NIH Clinical Center for evaluationResults from the first 107 IDENTIFY participants, including the 52 participants diagnosed with cancerWhy lymphoma is frequently identified through these unusual cfDNA patternsChromosomal patterns that are particularly suspicious for malignancyWhy gains and losses involving three or more chromosomes can be an important warning signWhy symptoms, physical examinations, and routine bloodwork may not reliably identify patients with occult cancerThe role of rapid whole-body MRI in evaluating patients for malignancyApproaches clinicians can consider when whole-body MRI is not readily availableDiagnosing and treating cancer during pregnancyWhat researchers have learned from participants whose evaluation does not identify cancerHow the IDENTIFY study has expanded since its original published cohortHow laboratories should report cfDNA patterns that may suggest maternal malignancyThe need for professional society guidelines for clinicians receiving these unusual resultsWhat 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, ...
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    37 mins
  • #411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome

    #411 Mock Cancer Genetic Counseling Session: Colon Cancer and Lynch Syndrome
    Sep 11 2026
    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 appointmentReviewing Patricia’s colon cancer diagnosis, treatment, and current healthAddressing Patricia’s concerns about her children early in the sessionConstructing and evaluating a three-generation cancer family historyIdentifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancersExplaining how genes normally help protect the body from developing cancerSporadic, familial, and hereditary explanations for cancerThe function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2How immunohistochemistry evaluates mismatch repair protein expression in a tumorWhy loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genesThe difference between tumor testing and germline genetic testingWhy abnormal tumor testing does not independently establish a Lynch syndrome diagnosisHow genetic changes confined to a tumor differ from inherited germline variantsWhy Patricia is the most informative person in her family to test firstThe option of using a multigene hereditary cancer panelPossible genetic testing results: positive, negative, and a variant of uncertain significanceWhat each potential result could mean for Patricia and her relativesWhy inheriting a pathogenic variant increases cancer risk but does not guarantee cancerWhy Patricia’s children would generally wait until adulthood for genetic testingHow a positive result could affect Patricia’s colon cancer surveillanceOther Lynch-associated cancer risks, including endometrial, ovarian, gastric, pancreatic, urinary tract, and additional cancersHow screening and risk-reducing options vary by the gene involvedCascade testing for Patricia’s mother, children, and other relatives if a familial variant is identifiedGenetic testing through a blood or saliva sampleThe expected turnaround time and how results would be reviewedPatricia’s decision about whether to proceed with germline genetic testing Lynch Syndrome Resources About Lynch Syndrome—Centers for Disease Control and PreventionGenetic Testing for Lynch Syndrome—Centers for Disease Control and PreventionManaging Cancer Risks Associated With Lynch Syndrome—Centers ...
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    31 mins
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