DNA Today: A Genetics Podcast

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.

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 info@DNAToday.com.

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.”

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.