DNA Today: A Genetics Podcast

CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics.

In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations.

From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient.

Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment.

Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model.

This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation. 

Episode Discussion Topics:

The 2018 announcement of the world’s first CRISPR-edited babies in China

Why He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlash

The difference between editing embryos and germline cells versus editing somatic cells in a patient

What the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technology

How the field of CRISPR medicine has evolved since 2018

How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular disease

Using CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterol

The development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery disease

The possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatments

How cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiency

What CPS1 deficiency is and why it can become life-threatening shortly after birth

How Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatment

Why KJ’s specific genetic variant was a candidate for base editing

How base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNA

Developing a gene-editing therapy specifically for a single patient

Delivering the gene editor to liver cells using lipid nanoparticles

Why the liver is an especially promising target for in vivo gene-editing therapies

The collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possible

Navigating FDA review for a therapy that had never previously been given to a human

Why KJ received multiple doses of the therapy

Early signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medication

Why researchers are careful not to describe KJ’s treatment as a cure

The importance of long-term monitoring for both effectiveness and potential safety concerns

Evaluating off-target editing and other potential risks of personalized gene-editing therapies

Whether creating an individual therapy for a single patient can realistically become scalable

Moving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variants

How regulatory frameworks may need to evolve for personalized genetic medicines

Which other rare genetic diseases could potentially benefit from this approach

What Baby KJ’s story could mean for the future of precision medicine and gene editing

About Dr. Kiran Musunuru
Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center for Inherited Cardiovascular Disease, and Co-Director of the Penn Medicine/Children’s Hospital of Philadelphia Orphan Disease Center.

Dr. Musunuru is a practicing cardiologist and physician-scientist whose research focuses on using genetics and gene-editing technologies to develop new treatments for cardiovascular, metabolic, and rare genetic diseases.

He has also written extensively about the ethical and scientific implications of human genome editing, including the CRISPR babies controversy in his book The CRISPR Generation. 

Along with Dr. Rebecca Ahrens-Nicklas and a large multidisciplinary team, Dr. Musunuru helped lead the development of the world’s first personalized CRISPR gene-editing therapy for Baby KJ. Their work was published in The New England Journal of Medicine in 2025.

Baby KJ and Personalized Gene Editing
KJ Muldoon was born with severe CPS1 deficiency, a rare urea cycle disorder caused by pathogenic variants in the CPS1 gene. Without adequate CPS1 enzyme activity, the body cannot efficiently process nitrogen generated from protein metabolism, which can lead to dangerously high ammonia levels.

Researchers designed a customized CRISPR base-editing therapy targeting KJ’s specific disease-causing variant. The editor was delivered to the liver using lipid nanoparticles.

KJ received multiple infusions of the personalized therapy. Researchers have reported that he has been able to consume more dietary protein, requires less nitrogen-scavenging medication, and has demonstrated improved metabolic stability. Researchers continue to monitor KJ closely to understand the therapy’s long-term safety, durability, and clinical benefit.

Resources

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease

Musunuru K, et al. New England Journal of Medicine. Published May 2025.

The landmark publication describes the development and initial clinical results of KJ’s personalized base-editing therapy.

 The CRISPR Generation: The Story of the World’s First Gene-Edited Babies

By Kiran Musunuru examines the science and ethical failures surrounding the creation of the first CRISPR-edited babies and what the case means for the future of human genome editing.

“Chinese researcher claims first gene-edited babies” in the Associated Press

The original article broke the news that the Chinese scientist He Jiankui had used CRISPR to edit human embryos, resulting in the birth of the world’s first gene-edited babies. 

“In Vivo Base Editing of PCSK9 with VERVE-102 for Hypercholesterolemia”

Recent paper co-authored by Dr. Musunuru in The New England Journal of Medicine regarding people carrying loss-of-function variants of proprotein convertase subtilisin–kexin type 9 (PCSK9) have reduced levels of low-density lipoprotein (LDL) cholesterol and fewer atherosclerotic cardiovascular disease events than persons without such variants. VERVE-102 is an investigational base-editing therapy designed to durably inactivate PCSK9 in the liver.

Children’s Hospital of Philadelphia: The Future of Personalized Medicine is Here: KJ’s Story
Learn more about KJ, his family, and the multidisciplinary team that developed his personalized treatment.

Penn Medicine: World’s First Patient Treated with Personalized CRISPR Gene Editing Therapy
Overview of the science behind the treatment and the collaboration required to bring it into the clinic.

Penn Medicine/CHOP Orphan Disease Center
Dr. Musunuru serves as Co-Director of the center, which works to advance research and therapeutic development for rare diseases.

AGBT Precision Health 
We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. 

The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. 

Relevant DNA Today Episodes
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 & #289 Part 2

Victoria Gray shares her experience living with sickle cell disease before becoming the first person treated with the CRISPR therapy that would later become Casgevy.

 

#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure

Joe Jackson shares his family’s effort to develop a personalized CRISPR therapy for his son William, who has Duchenne muscular dystrophy.

 

#198 CRISPR Ethics with Sam Sternberg

Dr. Sam Sternberg explores the scientific, ethical, and regulatory questions surrounding CRISPR gene editing.

 

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

Drs. Eric Green and Sarah Tishkoff join our host Kira Dineen for our annual recap and 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 info@DNAToday.com.

Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States. 

In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology.

In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use.

This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families.

We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies.

Thank you to BridgeBio for sponsoring this episode.

Episode Discussion Topics

How the achondroplasia treatment landscape has evolved in the last seven years

How achondroplasia affects more than height

How current and investigational therapies target FGFR3 signaling in different ways

What annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trials

Key findings from the Phase 3 PROPEL 3 study of investigational infigratinib

What researchers can and cannot yet predict about final adult height based on current data

Why body proportionality may be an important clinical and functional outcome

How researchers are evaluating potential effects on mobility, reach, independence, and daily activities

The long-term safety questions that remain when treatment begins in childhood

Why results from separate achondroplasia trials should not be compared directly

How families and healthcare providers can weigh treatment benefits, risks, administration, and personal goals

What is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling

Our Guest: Dr. Ravi Savarirayan
Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). 

 

Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.

Resources

BridgeBio Achondroplasia Program
Learn more about achondroplasia, FGFR3 biology, and BridgeBio’s clinical development program evaluating infigratinib.

BridgeBio Achondroplasia Clinical Trials
Information about the PROPEL clinical trials for infigratinib. 

“Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia”
The article that Dr. Ravi mentioned in the episode that was published June 28, 2026 in The New England Journal of Medicine. 

Little People of America
A nonprofit organization offering community, education, advocacy, events, and resources for people with dwarfism and their families.

Relevant DNA Today Podcast Episodes
Episode 401: The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
Dr. Savarirayan first appearance on the show where he explains how the first approved precision treatment for achondroplasia works and discusses international consensus recommendations for counseling families, initiating treatment, monitoring outcomes, and considering when treatment may be discontinued.

Episode 386: Achondroplasia Beyond Height: Managing Lifelong Medical Needs
Dr. Ricki Carroll discusses the medical complications associated with achondroplasia, the importance of coordinated multidisciplinary care, and why lifelong management must address much more than linear growth.

Episode 359: Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains
Dr. Janet Legare reviews the genetics, diagnosis, clinical features, medical management, and family counseling considerations associated with achondroplasia.

Episode 301: Dwarfism with Colleen Gioffreda
Colleen Gioffreda shares her experience living with achondroplasia, raising children with achondroplasia, navigating healthcare, building community, and challenging misconceptions about dwarfism.

Episode 192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer
Actor Atticus Shaffer discusses living with osteogenesis imperfecta, growing up in the entertainment industry, misconceptions about genetic conditions and short stature, and what he wants healthcare professionals to understand.

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

When patients relocate or relatives living abroad need cascade testing, finding a qualified genetics professional in another country can be surprisingly difficult. The new Global Genetics Directory aims to change that through a free, verified, peer-to-peer resource connecting genetics and genomics professionals worldwide.

In this episode of DNA Today, recorded in person at our studio, host Kira Dineen is joined by genetic counselor Monisha Sebastin, Founder and Principal Investigator of the Global Genetics Directory. Monisha explains how her international background and leadership within the genetics community revealed the need for a centralized global resource.

We explore how the directory was developed with support from the prestigious Audrey Heimler Special Projects Award, how professionals are verified across different credentialing systems, and why the team chose a closed, consent-based model rather than a publicly searchable directory. Monisha also shares how the directory could strengthen cross-border patient care, cascade testing, professional collaboration, and access to genetics services around the world.

Episode Discussion Topics

Why finding genetics professionals in other countries can be challenging

How Monisha’s experiences in India and the United States shaped her perspective on global access

When international connections are especially important for patient care and cascade testing

What genetics professionals around the world said they needed from a global directory

How NSGC’s Audrey Heimler Special Projects Award supported the project

How registration, credential verification, and directory searches work

Why eligibility is limited to credentialed genetics and genomics professionals

How the directory accommodates differences in professional titles, credentials, and scopes of practice

Why membership is free

The benefits of a closed, peer-to-peer, and consent-based model

How patients seeking care abroad can work with their current providers

The team’s vision for expanding the directory and strengthening international collaboration

About Monisha Sebastin
Monisha Sebastin, MS, LCGC, is the Founder and Principal Investigator of the Global Genetics Directory. She is also a senior pediatric genetic counselor in New York City, where she specializes in cardiogenetics and research.

Monisha grew up in India and earned her undergraduate degree in genetic engineering before completing her genetic counseling training at Sarah Lawrence College. Her international background, clinical experience, and leadership within the global genetic counseling community helped inspire the development of the Global Genetics Directory.

The directory was developed with support from the Audrey Heimler Special Projects Award for Monisha’s project, “Evaluating International Genomics Providers’ Needs and Perspectives on a Global Genomics Services Directory.”

Resources & Links

Global Genetics Directory
To email directly, contact@globalgeneticsdirectory.com 

National Society of Genetic Counselors (NSGC)

NSGC’s Audrey Heimler Special Projects Award

Find A Genetic Counselor Directory 

Relevant DNA Today Podcast Episodes

#109 Shenela Lakhani on Genetic Counseling in Qatar — Hear from Qatar’s first certified genetic counselor about establishing the profession in a new country and adapting counseling across cultures.

#110 Gattaca, 22 Years Later with Catherine Mayo and Ale Cantu — Catherine Mayo’s first DNA Today appearance examines the film’s enduring relevance to genetic counseling, reproductive decision-making, and genetic discrimination.

#114 Matt Burgess on Australasian Genetic Counseling — Explore genetic counseling education, certification, private practice, and healthcare delivery in Australia and across the Australasian region.

#212 NSGC Recap 2022 — Meet Monisha and learn about the clinical care and compassion that earned her the Heart of Genetic Counseling Award, along with her work supporting international genetic counselors.

#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels — Learn how genetic counseling is practiced and taught in South Africa, including barriers to expanding services and differences between its public and private healthcare systems.

#259 NSGC 2023 Recap and Reflections with Catherine Mayo — Catherine Mayo returns to the show to discuss major themes and takeaways from the genetic counseling profession’s annual conference.

#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci — Meet the Global Genetics Directory’s web developer and site architect and hear how computer vision can support the diagnosis of genetic conditions.

#286 Qatar Genome Program with Dr. Said Ismail — Explore the Middle East’s largest population-based genome initiative and its work to improve the representation of Qatari and Arab populations in genomic research.

#311 Mock Cancer Genetic Counseling Session with Catherine Mayo — Hear Catherine Mayo demonstrate cancer risk assessment, genetic testing education, and patient-centered counseling in a simulated session.

#351 Mock Cardiac Genetic Counseling Session with Monisha Sebastin — Hear Monisha demonstrate her cardiogenetics expertise and counseling approach during a simulated session involving a family history of sudden death.

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel.

This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker.

This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future.

In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food.

Joining us are a mother and daughter who have experienced that journey together:

Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU.

Lillian Isabella is a playwright, advocate, and graduate student in Columbia University's Narrative Medicine program who served six years on the National PKU Alliance board and lives with PKU. She is Dr. Brown's daughter. 

Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. 

 

Episode Discussion Topics

What a “low-protein diet” actually requires for someone living with PKU

How protein and phenylalanine tolerance are determined and monitored over time

The work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foods

Dr. Brown’s experience learning to treat feeding her newborn as a form of medical care

Raising two daughters with PKU and balancing dietary management with everyday family life

Lillian’s relationship with PKU formula and medical shakes throughout different stages of life

How elevated phenylalanine levels can affect focus, energy, mood, and daily functioning

Navigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situations

When Lillian first became aware that she ate differently from her peers

How constant food monitoring can influence a person’s emotional relationship with eating

PKU-related frustration, burnout, anxiety, guilt, and resentment

How language used by clinicians can shape a child’s identity and relationship with their condition

Transitioning from parent-managed PKU care to greater independence in adolescence and adulthood

Returning to metabolic care after time away

Lillian’s experience turning her lived experience with PKU into advocacy

Advice for parents who have just learned their baby has PKU

How guidance and support may change through early childhood, adolescence, and adulthood

Dr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier

Resources & Links

When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer Brown

PKU / Phenylketonuria

Phenylalanine hydroxylase deficiency ACT Sheet

The Newborn Screening Information Center (NBSIC)

Recommended Uniform Screening Panel, or RUSP

RUSP overview for families

ACMG Newborn Screening ACT Sheets and Algorithms

Baby’s First Test: Newborn Screening Information

National PKU Alliance

Relevant DNA Today Podcast Episode
Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future.

 

Connect with DNA Today:
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”

Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.

Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.

DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. 

Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. 

Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.

Prenatal cell-free DNA screening is designed to assess a pregnancy for chromosome conditions; but in rare cases, it can reveal something entirely unexpected about the pregnant patient’s own health.

In this episode, Kira Dineen is joined in-person by Dr. Diana Bianchi to explore how unusual or non-reportable cfDNA screening results can sometimes be a signal of an undiagnosed maternal cancer.

Dr. Bianchi shares findings from the NIH’s ongoing IDENTIFY study, which is investigating why these unexpected cfDNA patterns occur, how clinicians can distinguish potential malignancy from other explanations, and what should happen next when a prenatal screening result raises concern about maternal cancer.

We recorded this episode in person at AGBT Precision Health, one of our favorite conferences of the year. The conference wrapped this past Wednesday and brought together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations.

The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. We already put it on our calendars! 

 

In This Episode, We Discuss:

What “non-reportable” or “uninterpretable” cfDNA results actually mean

How unusual cfDNA results differ from typical test failures

Determining whether an unexpected cfDNA signal originates from the fetus, placenta, or pregnant patient

Maternal causes of discordant cfDNA results, including fibroids, clonal hematopoiesis, a demised twin, and malignancy

Why tumors can release DNA into the bloodstream that is detected during prenatal screening

Why Dr. Bianchi and her colleagues launched the prospective IDENTIFY study in 2019

What participants undergo when they travel to the NIH Clinical Center for evaluation

Results from the first 107 IDENTIFY participants, including the 52 participants diagnosed with cancer

Why lymphoma is frequently identified through these unusual cfDNA patterns

Chromosomal patterns that are particularly suspicious for malignancy

Why gains and losses involving three or more chromosomes can be an important warning sign

Why symptoms, physical examinations, and routine bloodwork may not reliably identify patients with occult cancer

The role of rapid whole-body MRI in evaluating patients for malignancy

Approaches clinicians can consider when whole-body MRI is not readily available

Diagnosing and treating cancer during pregnancy

What researchers have learned from participants whose evaluation does not identify cancer

How the IDENTIFY study has expanded since its original published cohort

How laboratories should report cfDNA patterns that may suggest maternal malignancy

The need for professional society guidelines for clinicians receiving these unusual results

What genetic counselors, OB/GYNs, and maternal-fetal medicine specialists should do when they receive a concerning non-reportable NIPS result

About Dr. Diana Bianchi
Diana W. Bianchi, MD, is a physician-scientist and a pioneer in noninvasive prenatal genetic testing and fetal cell microchimerism research. She previously served as Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health and was a senior investigator in the Center for Precision Health Research at the National Human Genome Research Institute.

Her research has helped define how prenatal cell-free DNA sequencing can unexpectedly identify genomic patterns associated with maternal malignancy. In 2019, Dr. Bianchi and colleagues launched the IDENTIFY Study — Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis — to investigate the biological causes of unusual or non-reportable prenatal cfDNA results and develop evidence-based approaches for identifying patients who may need evaluation for cancer.

 

IDENTIFY Study
The IDENTIFY study is an ongoing prospective study at the NIH Clinical Center evaluating pregnant and postpartum individuals who received unusual or non-reportable prenatal cfDNA sequencing results (also known as non-invasive prenatal screening or testing, NIPS or NIPT). 

The first major results from IDENTIFY were published in The New England Journal of Medicine in December 2024. Among the first 107 participants evaluated, 52 (48.6%) were diagnosed with cancer.

Researchers also found:

Rapid whole-body MRI had 98% sensitivity and 88.5% specificity for detecting occult cancer.

Physical examination and routine laboratory testing had limited ability to distinguish participants with cancer.

Among participants whose research cfDNA sequencing showed both copy-number gains and losses involving three or more chromosomes, 47 of 49 (95.9%) had cancer.

Other unusual cfDNA patterns can have nonmalignant explanations, reinforcing that a non-reportable result does not automatically mean cancer.

Resources

NIH IDENTIFY Study
Learn more about the ongoing Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis study through the National Human Genome Research Institute.

Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer
Turriff AE, Annunziata CM, Malayeri AA, et al. New England Journal of Medicine. Published December 2024.

Thalidomide History & Impact via UK Science Museum 

Thalidomide changed our relationship with new medicines forever. It took five years for the connection between thalidomide taken by pregnant people and the impact on their children to be made including limb differences. Not only did thalidomide change people’s lives, but it resulted in tighter drug testing and reporting of side-effects and, as our guest Dr. Bianchi points out, more fear surrounding malpractice when treating people who are pregnant. 

The Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health (NICHD)

Task Force on Research Specific to Pregnant Women and Lactating Women (PRGLAC) Implementation Working Group of Council

Connecticut Genetic Counselor’s Association (CTGCA)

Our host Kira Dineen attended a session at one of the annual conferences where she learned more about the IDENTIFY Study. The 2026 conference will take place the evening of Thursday October 15th and all day Friday October 16th, join Kira by registering here. Disclaimer that Kira is on the Board of Directors and designed the new website, so this is a bias, but informed recommendation.  

Colorectal Cancer Rates Are Skyrocketing in Young Adults — Is Your Lifestyle Putting You at Risk? Via Cancer Research Institute 

Once considered a disease of older age, colorectal cancer is rising at an alarming rate in younger adults. Today, 1 in 5 diagnoses occurs in someone under the age of 55 — and it has become a leading cause of cancer-related death in young people.

Coexistence of pregnancy and malignancy. 

Pavlidis NA. Oncologist. 2002;7(4):279-87. Erratum in: Oncologist 2002;7(6):585. PMID: 12185292.

Chemotherapy safe during pregnancy in second and third trimesters.
Starr P. Value-Based Cancer Care. 2015 Nov;6(10).

Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies. 

Lenaerts L, Brison N, Maggen C, Vancoillie L, Che H, Vandenberghe P, Dierickx D, Michaux L, Dewaele B, Neven P, Floris G, Tousseyn T, Lannoo L, Jatsenko T, Bempt IV, Van Calsteren K, Vandecaveye V, Dehaspe L, Devriendt K, Legius E, Bogaert KVD, Vermeesch JR, Amant F. EClinicalMedicine. 2021 May 13;35:100856. doi: 10.1016/j.eclinm.2021.100856. PMID: 34036251; PMCID: PMC8138727.

American College of Medical Genetics and Genomics (ACMG) 

The International Society for Prenatal Diagnosis (ISPD)  

National Comprehensive Cancer Network (NCCN)

AGBT Precision Health 
We recorded this episode in person at AGBT Precision Health, which brings together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. 

The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location.

 

Relevant DNA Today Episodes
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections
Drs. Christine Eng, Eric Green, and Marina Sirota share highlights from last year’s AGBT Precision Health meeting, including advances in genomic medicine, rare disease diagnostics, and precision health.

#348 NIPT Beyond the Basics: Screening for Single-Gene Conditions
Dr. Fred Ushakov explores how noninvasive prenatal testing is evolving beyond traditional chromosome screening and the role of single-gene NIPT.

#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne
Explore how cfDNA technology is being used to screen pregnancies for certain single-gene conditions.

#180 Reproductive DNA Testing with Mitera
This episode explores reproductive genetic testing, including carrier screening and cell-free DNA screening for common chromosome conditions during pregnancy.

#317 Prenatal Mock Genetic Counseling Session
Follow a mock prenatal genetic counseling appointment covering NIPS, diagnostic testing, ultrasound findings, and prenatal screening options.

#368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency
A mock genetic counseling session exploring an increased nuchal translucency finding, prenatal genetic testing options, and counseling after an abnormal ultrasound result.

 

Connect with 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.