DNA Today: A Genetics Podcast

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

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

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

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

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

 

In This Episode, We Discuss:

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

How unusual cfDNA results differ from typical test failures

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

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

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

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

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

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

Why lymphoma is frequently identified through these unusual cfDNA patterns

Chromosomal patterns that are particularly suspicious for malignancy

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

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

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

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

Diagnosing and treating cancer during pregnancy

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

How the IDENTIFY study has expanded since its original published cohort

How laboratories should report cfDNA patterns that may suggest maternal malignancy

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

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

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

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

 

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

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

Researchers also found:

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

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

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

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

Resources

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

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

Thalidomide History & Impact via UK Science Museum 

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

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

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

Connecticut Genetic Counselor’s Association (CTGCA)

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

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

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

Coexistence of pregnancy and malignancy. 

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

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

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

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

American College of Medical Genetics and Genomics (ACMG) 

The International Society for Prenatal Diagnosis (ISPD)  

National Comprehensive Cancer Network (NCCN)

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

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

 

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

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

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

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

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

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

 

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

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

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

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

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

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

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

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

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 info@DNAToday.com.

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.

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