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 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 [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! 

 

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 [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.

The Actors

Connor Linehan, MS, LCGC is a board-certified genetic counselor in Connecticut specializing in cancer. He helps patients and families understand inherited cancer risks, genetic testing options, and how test results may affect medical management and relatives. He is also a Clinical Instructor at a genetic counseling graduate program. Connor is the President of The Connecticut Genetic Counselor Association. (Fun fact, our host Kira Dineen designed this new website!) 

Edith Atwerebour, MPH is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose abnormal tumor testing raises concern for Lynch syndrome. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today.

Edith also appeared in the previous installment of this series, #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin, in which she played Denise, a pregnant patient seeking information about several medication exposures.

Mock Session Overview

• Establishing the purpose and structure of a cancer genetic counseling appointment
• Reviewing Patricia’s colon cancer diagnosis, treatment, and current health
• Addressing Patricia’s concerns about her children early in the session
• Constructing and evaluating a three-generation cancer family history
• Identifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancers
• Explaining how genes normally help protect the body from developing cancer
• Sporadic, familial, and hereditary explanations for cancer
• The function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2
• How immunohistochemistry evaluates mismatch repair protein expression in a tumor
• Why loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genes
• The difference between tumor testing and germline genetic testing
• Why abnormal tumor testing does not independently establish a Lynch syndrome diagnosis
• How genetic changes confined to a tumor differ from inherited germline variants
• Why Patricia is the most informative person in her family to test first
• The option of using a multigene hereditary cancer panel
• Possible genetic testing results: positive, negative, and a variant of uncertain significance
• What each potential result could mean for Patricia and her relatives
• Why inheriting a pathogenic variant increases cancer risk but does not guarantee cancer
• Why Patricia’s children would generally wait until adulthood for genetic testing
• How a positive result could affect Patricia’s colon cancer surveillance
• Other Lynch-associated cancer risks, including endometrial, ovarian, gastric, pancreatic, urinary tract, and additional cancers
• How screening and risk-reducing options vary by the gene involved
• Cascade testing for Patricia’s mother, children, and other relatives if a familial variant is identified
• Genetic testing through a blood or saliva sample
• The expected turnaround time and how results would be reviewed
• Patricia’s decision about whether to proceed with germline genetic testing

Lynch Syndrome Resources

• About Lynch Syndrome—Centers for Disease Control and Prevention
• Genetic Testing for Lynch Syndrome—Centers for Disease Control and Prevention
• Managing Cancer Risks Associated With Lynch Syndrome—Centers for Disease Control and Prevention
• Lynch Syndrome—GeneReviews
• Lynch Syndrome—MedlinePlus Genetics
• Lynch Syndrome Information and Support—FORCE
• American Cancer Society: Genetic Testing, Screening, and Prevention for Colorectal Cancer
• Find a Genetic Counselor—National Society of Genetic Counselors
• Global Genetics Directory

Relevant DNA Today Podcast Episodes

• #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst shares her experience with Lynch syndrome, genetic testing, risk-reducing surgery, and hereditary cancer advocacy.
• #43 Lynch Syndrome — Explore the genes associated with Lynch syndrome, related cancer risks, inheritance, genetic testing, and risk-reduction options.
• #25 Interview with Hereditary Cancer Experts — Georgia Hurst, Amy Byer Shainman, and Ellen Matloff discuss Lynch syndrome, hereditary breast and ovarian cancer, and other hereditary cancer syndromes, patient advocacy, and the importance of genetic counseling.
• #291 AFAP with Advocate Dan “Dry Dock” Shockley — Dan Shockley shares his experience with attenuated familial adenomatous polyposis (aFAP), colonoscopy screening, genetic testing, and continuing Dr. Henry Lynch’s legacy.
• #311 Mock Cancer Genetic Counseling Session — The first installment in this series demonstrates cancer genetic counseling for an unaffected patient with a family history of breast, ovarian, pancreatic, and prostate cancers.

Previous Installments of Our Mock Genetic Counseling Session Series

1. Episode #311: Cancer Session for Breast and Prostate Cancer Family History
2. Episode #317: Prenatal Session for Advanced Maternal Age
3. Episode #331: Pediatric Session for Autism
4. Episode #351: Cardio Session for Sudden Death of a Family Member
5. Episode #368: Prenatal Session for Increased Nuchal Translucency
6. Episode #373: Pediatric Session for an Abnormal Cystic Fibrosis Newborn Screening Result
7. Episode #406: Prenatal Session for Medications/Teratogens during Pregnancy (Ozempic, Zoloft, Xanax, and Metformin) 

Disclaimer

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. Cancer risks, screening recommendations, and risk-reducing options vary based on the individual, gene, personal medical history, and family history.

If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor or another qualified healthcare provider who can provide individualized medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. If you are a genetic professional yourself and looking for a a colleague outside the US, we recommend GlobalGeneticsDirectory.org 

Connect with DNA Today

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

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

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

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

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

Questions, partnership inquiries, and guest pitches can be sent to [email protected].

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

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

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

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

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

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

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

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

Episode Discussion Topics

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

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

Resources & Links

• Listen to PRETEND on Apple Podcasts
• Listen to PRETEND on Spotify
• Learn more at the PRETEND podcast website
• 1q21.1 Microdeletion—MedlinePlus Genetics
• 1q21.1 Recurrent Deletion—GeneReviews
• 1q21.1 Microdeletions—Unique, Understanding Rare Chromosome and Gene Disorders

Relevant DNA Today Podcast Episodes True Crime and Forensic Genetics

• #402 How Genetic Genealogy Caught the Golden State Killer — Retired cold-case investigator Paul Holes explains how investigative genetic genealogy identified Joseph DeAngelo and discusses DNA evidence in the Golden State Killer, Zodiac Killer, and other major cases.
• #326 How DNA Solves Crimes: The Forensic Science Behind True Crime — DNA-analysis pioneer Dr. Henry Erlich explores PCR, forensic DNA databases, exonerations, the O.J. Simpson case, and the scientific and ethical complexities of DNA evidence.
• #131 Libby Copeland on Law Enforcement Use of Genetic Databases — Journalist and author Libby Copeland examines how law enforcement uses consumer genetic databases, including GEDmatch, familial searching, and the privacy questions raised by the Golden State Killer investigation.

Connect with DNA Today:

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

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

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

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

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

Questions, partnership inquiries, and guest pitches can be sent to [email protected].

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

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

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

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

On This Episode, We Discuss:

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

About Gabrielle Glaser

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

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

Learn more about Gabrielle and her work on her website.

About Brianne Kirkpatrick Williams

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

About DNA Clarity and Support

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

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

Resources

• Gabrielle Glaser
• American Baby by Gabrielle Glaser 
• The DNA Guide for Adoptees by Brianne Kirkpatrick Williams and Shannon Combs-Bennett
• Watershed DNA
• Adoptee Rights Law Center
• Liberty Lost Podcast
• DNA Clarity and Support Podcast
• Current map of adoptee access to original birth certificates

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

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

Relevant DNA Today Episodes

• #103 Brianne Kirkpatrick on Adoptee Genetic Testing
• #139 Dani Shapiro on Her Donor-Conceived Discovery
• #242 Misattributed Paternity with Richard Wenzel
• #300 Netflix’s The Man With 1,000 Kids: Fertility Fraud Expert Eve Wiley and Advocate Laura
• #131 Libby Copeland on Law Enforcement Use of Genetic Databases

Connect

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

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

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

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

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

Questions, partnership inquiries, and guest pitches can be sent to [email protected].

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

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

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

Episode Discussion Topics

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

About the Guest

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

About the Series

This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management.

This series is sponsored by Alexion. The views expressed by the host and guests are their own.

Resources  

• Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP.
• Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056.
• Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438.
• Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10.
• Brandi ML, Khan AA, Rush ET, et al. The challenge of hypophosphatasia diagnosis in adults: Results from the HPP International Working Group Literature Surveillance. Osteoporosis International. 2024;35(3):439–449.
• Soft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.
• Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals.

Relevant DNA Today Episodes

• #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer: Actor Atticus Shaffer discusses living with osteogenesis imperfecta, his diagnostic and treatment experiences, and what he wants healthcare providers to understand about the condition.
• #301 Dwarfism with Colleen Gioffreda: Colleen Gioffreda shares her personal and professional perspectives on achondroplasia, skeletal dysplasias, parenting, adoption, accessibility, and advocacy.
• #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions: Dr. Fred Ushakov explains how single-gene NIPT and prenatal imaging may identify conditions including achondroplasia, osteogenesis imperfecta, and other skeletal dysplasias.
• #359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains: In the first episode of our BioMarin-sponsored achondroplasia series, Dr. Janet Legare explores the genetics, clinical presentation, diagnosis, and multidisciplinary care of achondroplasia.
• #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs: In the second episode of the BioMarin-sponsored series, Dr. Ricki Carroll discusses lifelong monitoring, medical complications, care coordination, and quality of life.
• #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan: The final episode of the BioMarin-sponsored series examines vosoritide, international treatment guidelines, and the evolution of precision medicine for achondroplasia.
• #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story: Mayte Garcia reflects on her and Prince’s experience with their son Amiir’s severe skeletal and craniofacial condition, Pfeiffer syndrome type 2.
• #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida: Dr. Pradeep Bhide and Florida State Representative Adam Anderson explore how the Sunshine Genetics Act could reshape newborn sequencing, rare disease diagnosis, and pediatric genomic medicine.

Connect with DNA Today

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

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

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

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

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

Questions, partnership inquiries, and guest pitches can be sent to [email protected].

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

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

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

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

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

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

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

Episode Discussion Topics

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

About Hereditary ATTR Amyloidosis

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

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

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

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

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

About Art Still

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

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

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

About Liz Still

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

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

Still 4 Life

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

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

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

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

Resources

• Still 4 Life
• Hereditary ATTR Amyloidosis – GeneReviews
• Amyloidosis Research Consortium
• Amyloidosis Foundation
• Art Still’s Patient-Advocacy Story from CHEST
• NFL Alumni Health: Art Still Goes to Washington
• University of Kentucky: Art Still Raises Awareness of Rare Heart Disease

More Cardiac Genetics Episodes of DNA Today

• #389 From Natural History to Gene Therapy: The Future of Danon Disease Research
• #351 Mock Cardiac Genetic Counseling Session
• #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman and McNally
• #283 Cardiogenetics with Blueprint Genetics
• #150 Euan Ashley and Stephen Quake on The Genome Odyssey
• #76 Amy Sturm on Cardiac Genetic Counseling

More Celebrity Interviews on DNA Today

• #404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane
• #402 How Genetic Genealogy Caught the Golden State Killer with Paul Holes
• #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story
• #309 Netflix’s Sandra Lee on Her Breast Cancer and Blue Ribbon Baking Championship
• #241 NBC’s Maury Povich on Paternity Testing
• #192: Osteogenesis Imperfecta with The Middle’s Atticus Shaffer
• #176 Glee’s Lauren Potter on Down Syndrome Awareness

Connect with DNA Today:

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

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

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

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

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

Questions, partnership inquiries, and guest pitches can be sent to [email protected].

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

This session was recorded in person, providing a more dynamic and engaging learning experience. Therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. 

The Actors:

Edith Atwerebour is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Denise, a 34-year-old woman who is pregnant with her second child and seeking information about medication exposures during pregnancy. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today.

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

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

Mock Session Overview:

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

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

MotherToBaby Resources:

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

MotherToBaby Pregnancy and Breastfeeding Fact Sheets

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

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

MotherToBaby: Sertraline (Zoloft®)

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

Previous Installments of Our Mock Genetic Counseling Session Series:

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Episode #351: Cardio Session for Sudden Death of a Family Member

Episode #368: Prenatal Session for Increased Nuchal Translucency

Episode #373: Pediatric Session for an Abnormal Cystic Fibrosis Newborn Screening Result

Disclaimer:

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. Medication risks and benefits during pregnancy vary based on the individual, medication, dose, timing, and underlying medical condition.

If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor or another qualified healthcare provider who can provide individualized medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. 

Connect with DNA Today:

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

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

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

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

Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward.

Behind the scenes, insurance coverage decisions, documentation requirements, prior authorization, denials, appeals, and cost concerns can all influence whether a patient receives timely answers.

In this episode of DNA Today, we launch a new special series sponsored by Revvity in this episode exploring the health economics of genetic testing and the real-world systems that shape access to genomic medicine.

Host Kira Dineen is joined by Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, and Mackenzie Mosera Derby, a pediatric genetic counselor at UW Health. Together, they examine genetic testing access from both the diagnostic laboratory and clinical perspectives exploring why insurance coverage remains so inconsistent, what goes into a prior authorization, why genetic tests are commonly denied, and how clinicians can approach appeals and peer-to-peer reviews.

In This Episode, We Discuss

• The transition from stacked laboratory procedure codes to codes for genes, panels, exomes, and genomes
• How and why insurance coverage varies among payers and individual health plans
• Coverage differences across hereditary cancer testing, exome sequencing, genome sequencing, reproductive testing, and population screening
• How rapid and ultra-rapid genome sequencing may be covered differently from standard genome sequencing
• The limited coverage available for preventive and population-based genomic testing
• The coordination required among patients, clinicians, laboratories, and insurance companies
• Why laboratories offering tests with similar names may differ in technology, interpretation, turnaround time, and clinical support
• What documentation is typically required for a genetic testing prior authorization
• How clinicians demonstrate medical necessity and clinical utility
• Why professional guidelines and peer-reviewed literature can strengthen an authorization request
• The role laboratories play in benefits investigations, billing assistance, financial support, and prior authorization
• Why laboratories may perform testing without knowing whether they will ultimately be reimbursed
• Common reasons insurance companies deny genetic testing
• Why “this test will not change clinical management” can be an overly narrow interpretation of genetic testing’s value
• How genetic results may inform surveillance, reproductive decisions, recurrence risks, family members, research eligibility, and patient support
• The role of hospital test utilization committees
• Why genetic counselors and geneticists should be represented on utilization review teams
• How letters of medical necessity (LOMN) and peer-to-peer reviews may support an appeal
• Why genetic counselors may be prevented from conducting peer-to-peer reviews, even when they were the ordering provider
• The time clinicians spend educating insurance representatives about genetics
• Why payer policies frequently lag behind genomic technology and professional recommendations
• The importance of detailed clinical documentation and accurate diagnostic coding
• The difference between prior authorization, insurance coverage, and guaranteed payment
• How self-pay pricing and misleading “no-cost” language can create confusion
• The potential devaluation of genetic testing and genetic counseling services through complementary or low cost self-pay options 
• Why improving access requires collaboration among patients, clinicians, laboratories, professional organizations, healthcare systems, and payers

About The Guests 

Madhuri Hegde, PhD, FACMG, is the Senior Vice President and Chief Scientific Officer at Revvity, where she leads the company’s scientific strategy and oversees Revvity Omics’ global network of laboratories.

Dr. Hegde is a medical geneticist and an American Board of Medical Genetics and Genomics-certified diplomate in clinical molecular genetics. Her work focuses on advancing genomic technologies and expanding access to diagnostic testing for patients with rare and inherited conditions. Before joining industry, Dr. Hegde served as Executive Director of the Emory Genetics Laboratory and as a professor of human genetics and pediatrics at Emory University.

She has previously joined DNA Today to discuss whole-genome sequencing, Duchenne muscular dystrophy, and rapid genome sequencing in the neonatal intensive care unit.

Mackenzie Mosera Derby, MS, CGC, is a pediatric genetic counselor at UW Health and the University of Wisconsin–Madison Division of Genetics and Metabolism.

Her work includes pediatric and inpatient genetics, genetic testing utilization, clinical education, and improving the systems through which patients access genetic services.

Mackenzie also teaches genetic counseling students and brings experience examining how documentation, insurance authorization, utilization review, and multidisciplinary collaboration affect patient care.

Resources

• American College of Medical Genetics (ACMG) Evidence-Based Clinical Practice Guidelines (EBGs)
• National Society of Genetic Counselors (NSGC) Billing and Reimbursement Resources (including CPT codes) 
• American Medical Association (AMA) creation of Current Procedural Terminology (CPT®) codes
• Centers for Medicare & Medicaid Services (CMS), which is the U.S. federal agency that provides health coverage to more than 160 million through Medicare, Medicaid, the Children's Health Insurance Program, and the Health Insurance Marketplace. 
• Health literacy paper referenced by Mackenzie sharing that only 12% of U.S. adults had “proficient” health literacy. Data was collected in 2003 and the paper was published in 2006. 
• Revvity website 

 

Related DNA Today Episodes #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

Dr. Pradeep Bhide and Florida State Representative Adam Anderson discuss the Sunshine Genetics Act and a voluntary newborn genome-sequencing pilot program. The episode examines how earlier genomic testing could shorten the diagnostic odyssey and expand access to rare disease diagnoses for children and families.

#298 Genetic Counselors’ Role in Insurance with Stephanie Gandomi

Genetic counselor Stephanie Gandomi shares her experience working within health insurance and explores prior authorization, payer medical policies, laboratory market access, and the role genetic counselors can play in coverage decisions.

#226 NICU Whole-Genome Sequencing with Hong Li and Madhuri Hegde

Dr. Hong Li and Dr. Madhuri Hegde discuss the use of rapid whole-genome sequencing for critically ill newborns, including how faster diagnoses may affect treatment, medical management, and healthcare utilization.

#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde

Genetic counselor Ann Martin and Dr. Madhuri Hegde explore the genetics of Duchenne muscular dystrophy, available genetic testing options, and emerging treatments.

#177 Whole-Genome Sequencing with PerkinElmer Genomics (aka Revvity)

Dr. Madhuri Hegde explains whole-genome sequencing, how it compares with other genetic testing approaches, and its growing role in diagnosing rare and inherited disorders.

#180 Reproductive DNA Testing with Mitera

This episode explores reproductive genetic testing, including insurance billing, prior authorization, self-pay options, and the financial considerations patients may encounter when pursuing testing.

 

Connect with DNA Today

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

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

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

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

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

Questions, partnership inquiries, and guest pitches can be sent to [email protected].

What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?

 

Tyler Mane is known for playing Sabretooth in X-Men and Deadpool & Wolverine, Michael Myers in Halloween, and Ajax in Troy. Before his acting career, Tyler spent more than a decade wrestling professionally around the world, including appearances with WCW and UWF as Big Sky and Nitron. Recently, Tyler has taken on a very different role: raising awareness about male breast cancer.

 

Tyler joins host Kira Dineen to share his experience of discovering a breast lump, initially believing it was a lipoma, having his concerns dismissed, and ultimately receiving a breast cancer diagnosis. He opens up about his first instinct to keep the diagnosis private, the embarrassment he initially felt, and what motivated him to speak publicly.

Episode Discussion Topics

• The breast lump that led Tyler to seek medical care
• Why Tyler and his wife, Renae, initially believed the lump was a lipoma
• Having his concerns dismissed and continuing to pursue answers
• Tyler’s first reaction to his breast cancer diagnosis
• The embarrassment and stigma surrounding male breast cancer
• Why he ultimately decided to share his story publicly
• Symptoms and physical changes men should pay attention to
• How masculinity and “toughing it out” can delay medical care
• The importance of self-advocacy and early detection
• How cancer treatment differs from the physical demands of wrestling
• Redefining strength during illness and recovery
• Genetic counseling and germline genetic testing after a male breast cancer diagnosis
• The implications of Tyler’s BRCA2+ genetic testing results for treatment and relatives including his adult children 
• How Tyler’s public image affects the response to his diagnosis
• Tyler and Renae’s upcoming podcast, MANE AF

 

Resources & Links

• Tyler Mane’s Breast Cancer Announcement Instagram Video
  • @TheRealTylerMane
  • @ManeAFpod
• NCCN Patient Resources for Breast Cancer
  • NCCN patient resources are based on the same treatment information your doctors use and help you talk to your doctor about the best treatment options for your disease.
• National Cancer Institute: Breast Cancer in Men
  • The National Cancer Institute provides an overview of male breast cancer symptoms, diagnosis, treatment, genetic testing, and questions patients may want to discuss with their healthcare teams. The NCI notes that inherited variants in BRCA1, BRCA2, and other genes may influence treatment and have implications for relatives.
• Facing Our Risk of Cancer Empowered (FORCE)
  • FORCE provides education, peer support, advocacy, research updates, and resources for people and families affected by inherited cancer risk, including BRCA1, BRCA2, PALB2, ATM, CHEK2, and other genes.
• Find a Genetic Counselor
  • The National Society of Genetic Counselors’ (NSGC) directory can help patients locate a genetic counselor specializing in cancer genetics, either locally or through telehealth.
• Cancer Genetic Testing
  • Genetic testing panels vary with how many genes are included. Healthcare providers can order just one gene or around a hundred, and everything in between. Tyler mentioned his possibly including 85, which is plausible. 

 

Relevant DNA Today Podcast Episode

• #360 Hereditary Breast Cancer on the Big Screen with Love, Danielle
  • Actress and filmmaker Devin Sidell and hereditary cancer advocate Amy Byer Shainman discuss the film Love, Danielle, Devin’s experience with a BRCA1 pathogenic variant, hereditary breast cancer, preventive surgery, family communication, and using storytelling to increase awareness.
• #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
  • This episode explores hereditary breast cancer testing, the genes included on breast cancer panels, and how researchers evaluate which genes have sufficient evidence to guide clinical care.
• #159 Black Cancer Genes on Breast Cancer
  • Attorney and BRCA advocate Erika Stallings and genetic counselor Dena Goldberg discuss breast cancer genetics, BRCA1 and BRCA2, racial disparities in cancer genetics, and improving access to genetic counseling and testing in the Black community.
• #165 Sequencing for Cancer Risk with Sandra Balladares
  • Scientist and breast cancer survivor Dr. Sandra Balladares shares her experience with breast cancer and discusses how genomic sequencing can identify inherited cancer risk, particularly within historically underserved populations.
• #81 Irina Brooke on BRCA2
  • Patient advocate Irina Brooke shares her BRCA2 journey, including genetic counseling, genetic testing, cancer-risk management, and supporting people and families affected by hereditary cancer.
• #25 Hereditary Cancer Syndromes with Ellen Matloff and Amy Byer Shainman
  • Hereditary cancer experts Ellen Matloff and Amy Byer Shainman discuss BRCA-associated cancer risks, genetic counseling, genetic testing, breast and ovarian cancer, and the documentary Pink & Blue, which includes the experiences of men affected by breast cancer.

 

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.”

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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. 

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Preparing for the genetic counseling board exam can feel overwhelming. Between the extensive study materials, challenging practice questions, and uncertainty about what to expect on exam day, candidates often struggle to determine where to begin and how to use their preparation time effectively.

In this episode of DNA Today, host Kira Dineen is joined by Melanie Hardy and Amy Shikany to explore the new and updated resources available to candidates preparing for the American Board of Genetic Counseling (ABGC) Certification Examination.

Melanie Hardy is the 2026 President of ABGC, and Amy Shikany is ABGC President-Elect and a past Chair of the Certification and Education Committee.

Together, they discuss ABGC’s Certify webpage, the new CGC self-study guide, the approved references list, a new student webinar, and the updated practice examination that launched on June 15, 2026. They also take listeners behind the scenes of how the certification exam is developed, reviewed, and maintained.

 

Discussion Topics:

• What the ABGC Certification Examination is designed to assess
• Where candidates should begin when navigating ABGC’s certification and exam resources
• How to use the exam content outline when developing a study plan
• Why ABGC created its new CGC self-study guide
• How candidates can use the self-study guide alongside the approved references
• What candidates can expect from ABGC’s new student webinar
• How questions for the certification exam are written and reviewed
• What makes a strong “one best answer” board-exam question
• How ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerations
• What has changed in the updated ABGC practice examination
• How closely the practice exam reflects the structure and reasoning required on the certification exam
• How candidates should interpret their practice-exam results
• How the passing standard for the certification exam is determined
• Preparation steps candidates should take before exam day
• Encouragement and next steps for candidates who do not pass on their first attempt
• How certified genetic counselors can contribute to the development and maintenance of the examination

One clarification from the conversation: candidates are provided access to a simple calculator during the certification exam.

 

About the Guests

Melanie Hardy, MS, CGC is the 2026 President of the American Board of Genetic Counseling. Through her leadership with ABGC, she supports the organization’s work to establish and maintain certification standards for the genetic counseling profession and provide resources for current and future certified genetic counselors.

 

Amy Shikany, MS, CGC is President-Elect of the American Board of Genetic Counseling and a past Chair of ABGC’s Certification and Education Committee. Her work with ABGC has included supporting the development, review, and ongoing maintenance of the genetic counseling certification examination.

 

Resources Mentioned

• American Board of Genetic Counseling (ABGC) website
• Introducing the New CGC® Logo & Digital Badge
• ABGC Certify 
  • Eligibility Requirements
  • Certification Process, Exam and Fees
  • Need-Based Certification Scholarship
• ABGC CGC Exam Resources
  • Candidate Guide (Start here)
  • Exam Content Outline
  • Self Study Guide 
    • Syndromes and Disorders List on Pages 19 and 20
  • Practice Exam
  • Examination References 
  • Exam Performance Taskforce Report
  • Student Webinar (Coming Soon)

Relevant DNA Today Episodes:

• #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know.
• #295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring, administration, costs, financial assistance, equity, and available resources.
• #235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC
• #138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work.
• #126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity.
• #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview. 

 

Connect:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].