DNA Today: A Genetics Podcast

How can variants in the same gene cause life-threatening disease in infancy for some individuals, while others experience mild symptoms or remain asymptomatic? Hypophosphatasia (HPP) challenges traditional expectations about genetic inheritance, with both autosomal dominant and autosomal recessive forms and a remarkably broad spectrum of clinical presentations.

In this episode, recorded in person in Nashville, our guest is Dr. Kathryn Dahir, Professor of Medicine in the Division of Diabetes, Endocrinology, and Metabolism at Vanderbilt University Medical Center and Director of the Program for Metabolic Bone Disorders. Drawing on decades of experience caring for patients with rare skeletal conditions, Dr. Dahir explores the complex genetics of HPP and why understanding a patient's clinical presentation is just as important as interpreting their genetic test results.

The conversation begins with a patient case that challenged Dr. Dahir's understanding of HPP. Initially treated for osteoporosis, the patient experienced recurrent fractures and worsening symptoms despite treatment. Further investigation revealed impaired bone mineralization, low alkaline phosphatase (ALP), and a single ALPL variant, illustrating how individuals with one affected copy of the gene can experience significant disease. Dr. Dahir explains how the ALPL gene encodes tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme essential for healthy bone mineralization, and how disruption of its activity contributes to the manifestations of HPP.

We explore the differences between autosomal dominant and autosomal recessive inheritance, the challenges of predicting disease severity from genetic testing alone, and why even relatives carrying the same ALPL variant may have very different symptoms. Dr. Dahir discusses the importance of identifying variants in cis or trans, recognizing deletions and duplications, evaluating variants of uncertain significance, and considering how genetic modifiers, environmental exposures, and coexisting conditions can influence a patient's presentation.

Finally, we discuss the evolving landscape of HPP genetic testing, including the importance of longitudinal follow-up, resources such as the global ALPL variant database, and ongoing efforts to improve variant classification. As genomic testing becomes increasingly accessible, this conversation highlights both its potential to improve rare disease diagnosis and the limitations of using genetics alone to predict an individual's future health.

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.

Publications

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].

For the third year in a row, DNA Today is bringing you inside the American Society of Human Genetics (ASHG) Annual Meeting, and this year, we've taken our genetics coverage international! We're reporting from beautiful Montréal, Canada, where thousands of geneticists, researchers, clinicians, and industry leaders gathered to share the latest breakthroughs shaping the future of genomics. From cutting-edge technologies to big questions about the future of genetic medicine, there's no shortage of exciting science to unpack. And don't worry, we're bringing you all the highlights, no passport required, eh?

In this episode, host Kira Dineen takes you behind the scenes of ASHG 2026 through two special segments recorded at the conference.

First, we stop by the Nabsys booth to chat with Founder and CEO Barrett Bready, MD, about how Electronic Genome Mapping (EGM) is advancing our ability to detect structural variants. We explore how the technology compares with traditional approaches, its emerging applications in hematologic malignancies, and the latest research Nabsys is showcasing at ASHG.

For our second segment, we're live on location! DNA Today teamed up with Wiley's Advanced Portfolio to co-host a special brunch featuring a live podcast recording right from the conference. With breakfast on the table and big questions on the menu, Kira moderated a conversation with leading genetics researchers and publishing experts about the discoveries, challenges, and opportunities shaping the field. From translating genetic findings into new therapies and harnessing AI to accelerate research to fostering interdisciplinary collaboration and rethinking the role of scientific publishing, this discussion goes beyond the conference presentations to explore where genetics is headed next.

Whether you joined us in Montréal or are experiencing the conference from afar, consider this your front-row seat to some of the conversations shaping the future of genetics. We're serving up fresh science with a side of maple syrup, because when it comes to genetics, there's always more to discover, eh?

Barrett Bready, MD is Founder and CEO of Nabsys. He is passionate about the impact that advanced technology can have on the understanding of disease as well as on its diagnosis and treatment.  He has raised $150 million to realize a new way of analyzing DNA that uses proprietary solid-state electronic nanodetectors to analyze very long molecules, with an initial focus on genomic structural variation. Barrett is an adjunct professor at Brown University where he lectures on the rapidly evolving business of life sciences. He serves as a commissioner of the I-195 Redevelopment District Commission, a major land redevelopment initiative in downtown Providence, RI with a focus on life sciences and other high-technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year, and in 2018, a career achievement award from the Warren Alpert Medical School of Brown University. Barrett graduated from the highly competitive Program in Liberal Medical Education (PLME) at Brown University where he received an M.D. and an Sc.B. in Physics and won the undergraduate physics award (the Lindsay Prize) and the Galletti Prize for physics in medicine.

Yuming Hu, PhD serves as the Editor-In-Chief for Advanced Genetics, which is a peer-reviewed, broad-scope, open-access journal dedicated to advancing gene-related research with a recently expanded scope. It includes not only human, animal, plant, and microbial genetics, genomics, and epigenomics, but also topics that employ genetic, omics technologies, bioinformatics, computational biology, and artificial intelligence as toolboxes for discovery and innovation. Dr. Hu received her B.Sc. and M.Sc. in Biotechnology from Wageningen University and her Ph.D. in Biochemistry and Biotechnology from Ghent University. She worked as a Research Assistant at the University of California, Davis, and completed a postdoctoral fellowship at Tsinghua University. She joined Wiley as a scientific editor in 2022. 

Nadav Ahituv, PhD is a Professor in the Department of Bioengineering and Therapeutic Sciences and the Director of the Institute for Human Genetics at the University of California, San Francisco. He received his PhD in human genetics from Tel-Aviv University working on hereditary hearing loss. He then did his postdoc, specializing in functional genomics, in the Lawrence Berkeley National Laboratory and the DOE Joint Genome Institute. His current work is focused on identifying gene regulatory elements and linking nucleotide variation within them to various phenotypes including morphological differences between species, drug response and human disease. His lab was one of the co-developers of massively parallel reporter assays (MPRAs) that allow for high-throughput functional characterization of gene regulatory elements. In addition, he pioneered cis-regulation therapy (CRT), the use of gene regulatory elements as therapeutic targets for haploinsufficient disorders, and adipose modulation transplantation (AMT), a novel cancer cell therapy.

Brandon Lê, PhD is a genetic epidemiologist deeply passionate about biomedical research and uncovering the genetic etiologies of rare human genetic disorders, as well as a science communicator experienced in translating findings from bench to bedside. He has worked in sickle cell disease (SCD), essential tremor (ET), epigenetic aging, glaucoma, and bipolar disorder (BPD), and his training is in genetic epidemiology, statistical genetics, and computational biology as applied to analyzing large biological datasets. He is currently a postdoctoral scholar at the Virginia Institute for Psychiatric and Behavioral Genetics (VIPBG) at Virginia Commonwealth University (VCU) in Richmond, VA investigating the genetic etiology of bipolar disorder. 

Next stop on our conference road trip is Baltimore, MD for the National Society of Genetic Counselors (NSGC) annual conference. We can’t wait to see you there! If you see Kira, say hi and she will give you a DNA Today sticker! 

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].

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. 

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.

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.

#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.

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].

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 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.

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.

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.

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.

Dr. Janet Legare reviews the genetics, diagnosis, clinical features, medical management, and family counseling considerations associated with achondroplasia.

Colleen Gioffreda shares her experience living with achondroplasia, raising children with achondroplasia, navigating healthcare, building community, and challenging misconceptions about dwarfism.

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.

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].

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.

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.”

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].

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 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.

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].

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! 

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.

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:

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections

#348 NIPT Beyond the Basics: Screening for Single-Gene Conditions

#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne

#180 Reproductive DNA Testing with Mitera

#317 Prenatal Mock Genetic Counseling Session

#368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency

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].

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.

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.

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 

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].

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.

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.

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].

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.

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.

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. 

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.

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.

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].