DNA Today: A Genetics Podcast

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 info@DNAToday.com.

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 info@DNAToday.com.

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 info@DNAToday.com.

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 info@DNAToday.com.

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.