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.

Preparing for the genetic counseling board exam can feel overwhelming. Between the extensive study materials, challenging practice questions, and uncertainty about what to expect on exam day, candidates often struggle to determine where to begin and how to use their preparation time effectively.
In this episode of DNA Today, host Kira Dineen is joined by Melanie Hardy and Amy Shikany to explore the new and updated resources available to candidates preparing for the American Board of Genetic Counseling (ABGC) Certification Examination.
Melanie Hardy is the 2026 President of ABGC, and Amy Shikany is ABGC President-Elect and a past Chair of the Certification and Education Committee.
Together, they discuss ABGC’s Certify webpage, the new CGC self-study guide, the approved references list, a new student webinar, and the updated practice examination that launched on June 15, 2026. They also take listeners behind the scenes of how the certification exam is developed, reviewed, and maintained.
 
Discussion Topics:
What the ABGC Certification Examination is designed to assess
Where candidates should begin when navigating ABGC’s certification and exam resources
How to use the exam content outline when developing a study plan
Why ABGC created its new CGC self-study guide
How candidates can use the self-study guide alongside the approved references
What candidates can expect from ABGC’s new student webinar
How questions for the certification exam are written and reviewed
What makes a strong “one best answer” board-exam question
How ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerations
What has changed in the updated ABGC practice examination
How closely the practice exam reflects the structure and reasoning required on the certification exam
How candidates should interpret their practice-exam results
How the passing standard for the certification exam is determined
Preparation steps candidates should take before exam day
Encouragement and next steps for candidates who do not pass on their first attempt
How certified genetic counselors can contribute to the development and maintenance of the examination
One clarification from the conversation: candidates are provided access to a simple calculator during the certification exam.
 
About the Guests
Melanie Hardy, MS, CGC is the 2026 President of the American Board of Genetic Counseling. Through her leadership with ABGC, she supports the organization’s work to establish and maintain certification standards for the genetic counseling profession and provide resources for current and future certified genetic counselors.
 
Amy Shikany, MS, CGC is President-Elect of the American Board of Genetic Counseling and a past Chair of ABGC’s Certification and Education Committee. Her work with ABGC has included supporting the development, review, and ongoing maintenance of the genetic counseling certification examination.
 
Resources Mentioned
American Board of Genetic Counseling (ABGC) website
Introducing the New CGC® Logo & Digital Badge
ABGC Certify 
Eligibility Requirements
Certification Process, Exam and Fees
Need-Based Certification Scholarship
ABGC CGC Exam Resources
Candidate Guide (Start here)
Exam Content Outline
Self Study Guide 
Syndromes and Disorders List on Pages 19 and 20
Practice Exam
Examination References 
Exam Performance Taskforce Report
Student Webinar (Coming Soon)
Relevant DNA Today Episodes:
#397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know.
#295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring, administration, costs, financial assistance, equity, and available resources.
#235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC
#138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work.
#126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity.
#57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview. 
 
Connect:
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What happens when DNA from a decades-old crime scene meets a family tree created generations later?
That combination helped investigators identify the Golden State Killer and transformed how law enforcement approaches some of the country’s most difficult cold cases.
Content warning: This episode includes discussions of murder, sexual assault, suicide, and other sensitive topics.
In this episode of DNA Today, host Kira Dineen speaks with Paul Holes, a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, Paul worked on some of the most infamous cases in American criminal history, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the investigation that ultimately identified Joseph DeAngelo as the Golden State Killer.
Paul is also the author of Unmasked: My Life Solving America’s Cold Cases, co-host of the podcast Small Town Dicks, and one of the investigators featured in the television special Celebrity Crime Scene: Marilyn Monroe, available on Hulu.
We explore the science, strategy, and ethical complexity behind cold-case investigations. Paul shares how investigators determine whether decades-old evidence still holds value, what kind of DNA evidence would be needed to scientifically resolve the Zodiac case, and why older biological samples create difficult decisions about whether to test now or preserve evidence for future technologies.
The episode also dives into the landmark investigation that identified the Golden State Killer. Paul walks through how traditional forensic DNA databases failed to produce a match, why investigative genetic genealogy changed the direction of the case, and how distant relatives’ DNA helped investigators build family trees that eventually led to Joseph DeAngelo.
Later in the episode, Paul discusses his latest project, Celebrity Crime Scene: Marilyn Monroe, and how modern virtual reconstruction can be used to reexamine a historic death scene more than six decades later.
Episode Discussion Topics
Cold-case investigations and how evidence is reexamined decades later
How investigators decide which biological samples may still have forensic value
The Zodiac Killer case and what would be needed to consider it scientifically solved
The challenges of DNA evidence from stamps, envelopes, letters, and other handled items
Why finite evidence creates difficult decisions about testing now versus waiting for future technology
The role of DNA in linking the Golden State Killer crimes before a suspect was identified
Why traditional forensic DNA databases did not solve the case
How investigative genetic genealogy helped generate a new lead
How distant relatives’ DNA can help identify someone who never uploaded their own DNA
The scientific and investigative process behind building genealogical trees from crime-scene DNA
How investigators narrowed family branches until Joseph DeAngelo became a viable suspect
Reconstructing Marilyn Monroe’s final hours using virtual crime-scene technology
What records, photographs, reports, and witness statements can reveal in historical case reviews
About Paul Holes
Paul Holes is a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, he investigated some of the country’s most complex and high-profile cases, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the Golden State Killer case.
Paul’s work helped bring national attention to the power of investigative genetic genealogy, particularly through the identification of Joseph DeAngelo as the Golden State Killer. He is the author of Unmasked: My Life Solving America’s Cold Cases, co-host of Small Town Dicks, and appears in Celebrity Crime Scene: Marilyn Monroe.
Resources
Unmasked: My Life Solving America’s Cold Cases by Paul Holes
Small Town Dicks podcast
Celebrity Crime Scene: Marilyn Monroe, available on Hulu
Relevant DNA Today Podcast Episode
#326: How DNA Solves Crimes: The Forensic Science Behind True Crime
#131: DTC Series: Libby Copeland on Law Enforcement Use of Genetic Databases
#130 DTC Series: Anne Greb on 23andMe
Connect
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Just a few years ago, there were no pharmacological treatments for patients with achondroplasia. Today, with multiple therapies on the market, the conversation has shifted from if we can treat to how we treat safely, consistently, and thoughtfully. 
In this third and final installment of our achondroplasia series, sponsored by BioMarin, we explore the recently published international consensus guidelines for vosoritide. These guidelines provide a roadmap for the entire treatment lifecycle, from the initial diagnosis and counseling to initiation, monitoring, and eventually, the transition off therapy.  You can review the prescribing information for vosoritide here with additional safety information, including about the risk of low blood pressure.  
Joining us in-person all the way from Australia is the lead author of these guidelines, Dr. Ravi Savarirayan. Dr. Savarirayan is a global leader in skeletal dysplasia and has been a driving force in the clinical development of vosoritide from its earliest stages. 
 
Topics Discuss: 
 
The Journey of Vosoritide: Dr. Savarirayan shares his personal "why", from the early research phases to the clinical trials that changed the landscape of skeletal dysplasia care. 
 
Precision Medicine at the Molecular Level: How vosoritide acts as the first precision medicine approved for achondroplasia by targeting and counteracting overactive FGFR3 signaling, along with important safety information such as a risk for low blood pressure 
 
The International Guidelines: Why a global consensus was necessary and how it addresses gaps in real-world clinical practice. 
 
The Treatment Lifecycle: 
 
Counseling: Setting expectations and having the first conversation with families. 
Initiation: Practical tips for daily subcutaneous injections and establishing a routine. 
Safety & Monitoring: How clinicians monitor growth and manage safety considerations like hypotension across different age groups. 
Discontinuation: How to navigate growth plate closure and the transition off therapy. 
The Future of Care: How these guidelines will evolve as we gather more long-term, real-world data. 
 
Our Guest Dr. Ravi Savarirayan: 
 
Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. 
 
Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). 
 
Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries.  
 
His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow. 
 
Summary:  
We talk about the journey to vosoritide, Dr. Ravi’s personal history with achondroplasia research, published treatment guidelines and how vosoritide is approved under accelerated approval to increase linear growth in pediatric patients with achondroplasia with open epiphyses.  We also discuss the most serious side effect seen—transient decreases in blood pressure, which is why patients should have adequate food and fluid intake prior to administration.  We also cover that it is a daily injection and that injection site reactions are the most common side effect and some patients also experienced vomiting, injection site urticaria, arthralgia, decreased blood pressure, and gastroenteritis.  Those aren't all the side effects, so please refer to the prescribing information here for more information about vosoritide. 
 
Relevant Resources:  
Savarirayan, R., Hoover-Fong, J., Ozono, K. et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat Rev Endocrinol 21, 314–324 (2025). https://doi.org/10.1038/s41574-024-01074-9 
 
Here is a list of Dr. Ravi Savarirayan’s publications, there are far too many to list them all here.   
 
Dr. Ravi Savarirayan Video Explaining Vosoritide  
 
 
Relevant DNA Today Episodes:  
#192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer  
#301 Dwarfism with Colleen Gioffreda  
#348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)  
#359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains (Biomarin’s Sponsored Series First Installment) 
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity 
#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs (Biomarin’s Sponsored Series Second Installment)  
 
Connect With Us:   
Luckily, you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” 
Prefer watching? We’ve got you covered! For years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. Our makeup artist for recordings at NBC Universal is Sharon DeMasi. Our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Four hundred episodes. Nearly fourteen years of conversations. One podcast that began with a high school student, a Rock Band microphone, and a deep curiosity about genetics.
For this milestone episode, DNA Today is turning the microphone around. Kira Dineen is joined by Jess Rizzo, a 2026 graduate of the Rutgers University Genetic Counseling Master’s Program, to look back at the evolution of DNA Today, from its earliest episodes in 2012 to becoming a multi-award-winning genetics podcast and the foundation for Gene Pool Media.
Kira shares how the original idea for DNA Today came together, where the name came from, and what she remembers about recording those first episodes. She also reflects on the major turning points that shaped the podcast, including its first sponsorship, conversations with prominent leaders in genetics, and interviews that changed how she thinks about both science and storytelling.
The conversation explores what makes someone an effective science communicator, what separates a good podcast guest from an unforgettable one, and how DNA Today expanded into Gene Pool Media. Kira also looks ahead to the future of the podcast and considers whether the version of herself who started the show in 2012 could ever have imagined reaching Episode 400.
The episode concludes with a rapid-fire round of “DNA Today Superlatives,” featuring Kira’s dream guests, proudest episode production, most surprising topics, most popular episode, and the conversations that have had the greatest personal impact on her.
An exciting announcement, since recording we learned we have been ranked number one on Million Podcast’s list of “Best DNA Podcasts in the US”.  
Thank you to our audience for sticking with us! Whether you have been listening since 2012, or last week. We appreciate your support in growing DNA Today over the last 14 years. 
About Host Kira Dineen
Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has 15 years of podcast experience fueled by a passion for science communication. She has hosted and/or produced a dozen podcasts, many of which are in her science podcast network: Gene Pool Media. Her flagship show, DNA Today, is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show has won the Best Science and Medicine Podcast Award for three years, among others. Over the last 14 years, DNA Today has produced over 400 episodes with support from over 100 sponsors. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a practicing licensed certified genetic counselor at a high risk pregnancy center in Connecticut. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics. 
In This Episode, We Discuss
How DNA Today began in 2012
The story behind the podcast’s name
What the earliest recordings were like
How the show has evolved over 400 episodes
Major episodes and guests that shaped the direction of the podcast
The first DNA Today sponsorship on Episode 100 (shoutout KGI) 
What makes a strong science communicator
The qualities that make a podcast guest memorable
How Gene Pool Media grew out of DNA Today
The lessons Kira has learned from interviewing patients, families, researchers, genetic counselors, physicians, advocates, and other experts
The future of DNA Today and Gene Pool Media
Kira’s favorite, most impactful, and most surprising episodes
DNA Today Episodes Referenced
#25: Hereditary Cancer Syndromes with Ellen Matloff 
#110: Analyzing Gattaca
#142 Barbara Fortini on KGI’s Genomic Data Analytics
#100: Human Hereditary with Carl Zimmer
#211: Gene Patents with Jorge Contreras 
#264: XXY/Klinefelter Syndrome with Ryan Bregante
#288 and #289: Sickle Cell Disease CRISPR Treatment with Victoria Gray
#300: “The Man with 1,000 Kids” Netflix Doc with Eve Wiley and Laura 
#306: Human Genome Project and COVID-19 Leadership with Dr. Francis Collins
#370: Genetics Wrapped: 2025 Top Advances in Genomic Medicine with Drs. Eric Green and Sarah Tishkoff
#390: Pfeiffer Syndrome with Prince’s Wife/Co-Parent, Mayte Garcia
Additional Resources Referenced
Gene Pool Media: The Science Podcast Network
Listen & Learn: A Rare Disease Podcast Course by Gene Pool Media
DNA Dialogues: The Official Podcast of the Journal of Genetic Counseling 
DNA Clarity and Support Podcast
All Access DNA Podcast 
Mugglecast: A Harry Potter Podcast (2005-Present)
Keck Graduate Institute 
Master of Science in Human Genetics and Genetic Counseling
Master of Science in Human Genetics and Genomic Data Analytics
My Gene Counsel 
“My Medical Choice” Angelina Jolie’s NTY Op-Ed Piece
The Most Beautiful: My Life with Prince A Memoir By Mayte Garcia
 
Connect With Us:
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life.
In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU.
We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards.
Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care.
Thank you to PTC Therapeutics for sponsoring this three-part series on PKU.
Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice.
Episode Discussion Topics
Why PKU helped launch newborn screening in the United States
What life was like for individuals with PKU before newborn screening
How PKU affects the body on a metabolic level
The role of phenylalanine hydroxylase deficiency
Why elevated phenylalanine levels can impact brain development
Dr. Robert Guthrie’s role in developing newborn screening
The history and significance of the Guthrie card
Sarah’s experience learning her daughter’s newborn screen was flagged for PKU
What confirmatory testing and early treatment looked like for Izzy
How newborn screening panels vary across states
What the Recommended Uniform Screening Panel, or RUSP, is
Gaps in access to medical formula and low-protein medical foods
Why insurance coverage remains a major challenge for families
The promise and concerns around newborn sequencing
How clinicians can better support newly diagnosed families
Why connecting families with community early can be life-changing
The need for more metabolic geneticists, genetic counselors, and dietitians
Guest Bios
Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders.
Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor.
Resources
PKU / Phenylketonuria
Phenylalanine hydroxylase deficiency ACT Sheet
The Newborn Screening Information Center (NBSIC)
Recommended Uniform Screening Panel, or RUSP
RUSP overview for families
ACMG Newborn Screening ACT Sheets and Algorithms
flok health
Baby’s First Test: Newborn Screening Information
National PKU Alliance
Guthrie-Kock Scholarships from flok
David’s story of learning of an older brother with PKU who was institutionalized
Referenced DNA Today Podcast Episode
#394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida
Connect With Us
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC. 
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.