- 37 minutes 46 seconds#408 Low ALP, Fractures, and Early Tooth Loss Point to Hypophosphatasia
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
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 SeriesThis 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.
- #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.
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”
Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.
Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.
DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.
Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.
Questions, partnership inquiries, and guest pitches can be sent to [email protected].
21 August 2026, 9:00 am - 39 minutes 47 seconds#407 NFL and Kansas City Chiefs Star Art Still on the Missed Signs of Hereditary Amyloidosis
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
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 StillArt 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 StillLiz 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 LifeArt 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
- #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
- #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
You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”
Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.
Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.
DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.
Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.
Questions, partnership inquiries, and guest pitches can be sent to [email protected].
14 August 2026, 3:35 pm - 30 minutes 34 seconds#406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin
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.
7 August 2026, 9:00 am - 34 minutes 35 seconds#405 Why Insurance Denies Genetic Testing, and How to Navigate Coverage
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
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 FloridaDr. 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 GandomiGenetic 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 HegdeDr. 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 HegdeGenetic 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 MiteraThis 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 TodayYou never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”
Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.
Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.
DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.
Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.
Questions, partnership inquiries, and guest pitches can be sent to [email protected].
31 July 2026, 9:00 am - 21 minutes 38 seconds#404 Male Breast Cancer with X-Men Actor and Former Pro Wrestler Tyler Mane
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
- 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 TodayYou never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.”
Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios.
Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network.
DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead.
Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com.
Questions, partnership inquiries, and guest pitches can be sent to [email protected].
24 July 2026, 9:00 am - 30 minutes 46 seconds#403 Genetic Counseling Boards Prep: ABGC’s New Resources
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 GuestsMelanie 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
- 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)
- #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know.
- #295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring, administration, costs, financial assistance, equity, and available resources.
- #235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC
- #138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work.
- #126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity.
- #57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview.
Connect:Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
17 July 2026, 9:00 am - 24 minutes 7 seconds#402 How Genetic Genealogy Caught the Golden State Killer
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
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
#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
ConnectLuckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
10 July 2026, 9:00 am - 36 minutes 55 seconds#401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
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:
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 [email protected].
3 July 2026, 9:00 am - 34 minutes 58 seconds#400 The Story Behind "DNA Today"
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 DineenKira 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
- #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
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- 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
- Gene Pool Media: The Science Podcast Network
- Mugglecast: A Harry Potter Podcast (2005-Present)
- Keck Graduate Institute
- 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 [email protected].
26 June 2026, 9:00 am - 40 minutes 6 seconds#399 How PKU Changed Newborn Screening Forever
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
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
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].
19 June 2026, 9:00 am - 29 minutes#398 Soil Microbiomes, Plant Genetics, and Groundswell with Nikki Reed and Rebecca Tickell
What if the future of human health doesn’t just begin in the clinic, but in the soil?
In this episode of DNA Today, we explore the new documentary Groundswell, the final chapter in the regenerative agriculture documentary trilogy that began with Kiss the Ground and continued with Common Ground. Narrated by Demi Moore and Woody Harrelson, Groundswell follows regenerative agriculture solutions across five continents, showing how restoring soil health can support biodiversity, food systems, local economies, climate resilience, and human health.
This episode takes DNA Today into a different but deeply relevant corner of genetics and genomics. While we often focus on human genetics, Groundswell broadens the lens to show how genetics is embedded in entire ecosystems.
Soil is alive with microbial diversity. Plants depend on complex relationships with bacteria, fungi, insects, and the environment around them. Crop diversity and seed diversity can influence resilience to drought, pests, disease, and changing climate conditions. Human health is also shaped not only by our DNA, but by the environments we live in, the food we eat, the water we drink, the chemicals we are exposed to, and the microbes we encounter.
Joining us are Nikki Reed, co-producer of Groundswell, and Rebecca Harrell Tickell, co-director of the film.
About Nikki ReedMany listeners will know Nikki from her role as Rosalie Hale in The Twilight Saga, as well as her work in Thirteen, which she co-wrote and starred in, and her role in The O.C. Beyond acting, Nikki is also a filmmaker, farmer, entrepreneur, and environmental advocate.
About Rebecca Harrell TickellRebecca Harrell Tickell is an award-winning filmmaker, producer, and environmental activist whose work includes Kiss the Ground, Common Ground, and now Groundswell. Through this trilogy, Rebecca and her collaborators have helped bring regenerative agriculture into mainstream conversations about climate, food, health, and the future of farming.
In This Episode, We Discuss- How Nikki Reed’s experience in Twilight shaped the way she thinks about storytelling, cultural influence, and using her platform for impact
- Why Nikki became involved in regenerative agriculture and how her connection to food, farming, and environmental advocacy became personal
- What regenerative agriculture means and how it differs from conventional agriculture
- Why healthy soil is not just “dirt,” but a living ecosystem filled with microbes, fungi, roots, insects, and organic matter
- How soil health connects to plant health, nutrient cycling, water retention, and ecosystem resilience
- Why biodiversity matters above and below ground, from soil microbial communities to crops, pollinators, insects, animals, and humans
- How regenerative agriculture reframes food systems as regionally specific, community-based, and connected to local ecosystems
- The connection between food, chemical exposures, the environment, and gene-environment interactions
- Why the guests see regenerative agriculture as both a practical solution and a hopeful movement
- How storytelling can help make complex topics like soil science, microbes, farming systems, and climate resilience more accessible
This episode includes a passionate discussion about regenerative agriculture, pesticides, cancer, fertility, carbon, and soil health. As with many topics at the intersection of environment and health, the science is complex. Here are a few important clarifications and sources for our audience members who want to dig deeper.
Cancer RatesThe episode references concern about rising cancer rates, including pediatric cancer and cancers in younger adults. The most accurate summary is nuanced. For childhood and adolescent cancers in the U.S., a 2025 analysis found that age-standardized cancer incidence increased from 2001 to 2016, then decreased from 2016 to 2022. Cancer death rates among U.S. youth ages 0–19 also declined 24% from 2001 to 2021, according to CDC/NCHS data. Read the study in Cancer Discovery.
At the same time, early-onset colorectal cancer has clearly been increasing. The American Cancer Society reports that colorectal cancer death rates in adults under 50 have increased by about 1% per year since 2004, even as rates have declined among many older adults. Researchers are actively studying potential contributors, including diet, obesity, sedentary behavior, environmental exposures, microbiome changes, and other factors, but there is not one single proven cause. Read more from the American Cancer Society.
Pesticides, Epigenetics, and FertilityThe episode discusses pesticides and their potential effects on human health. A careful way to frame this is that some pesticide exposures have been associated with biological effects, including possible epigenetic changes and reproductive health concerns, especially at higher or occupational exposure levels.
Risk depends on the specific chemical, dose, route of exposure, timing, and individual susceptibility. For glyphosate specifically, there is disagreement among major scientific and regulatory bodies. The U.S. Environmental Protection Agency states that it does not agree with the International Agency for Research on Cancer’s conclusion that glyphosate is “probably carcinogenic to humans.” EPA’s position is that glyphosate is not likely to be carcinogenic to humans when used according to current labeling, while IARC classified glyphosate as “probably carcinogenic to humans” in 2015. Read EPA’s glyphosate overview.
There is also research connecting some pesticide exposures with male fertility markers. A 2022 review found epidemiological evidence supporting associations between pesticide exposure and male fertility outcomes, including semen quality, particularly among workers and exposed populations. Read the review in Toxics.
Soil Carbon and ClimateRegenerative agriculture and improved soil health can play an important role in carbon storage, water retention, and climate resilience. However, soil carbon sequestration should be understood as one climate tool, not a complete solution on its own. Fossil fuel emissions remain the dominant driver of human-caused carbon dioxide emissions.
The Global Carbon Project projected total anthropogenic CO₂ emissions from fossil fuels and land-use change at about 41.6 GtCO₂ in 2024, with fossil CO₂ emissions alone projected at 37.4 GtCO₂. This means land management matters, but reducing fossil fuel emissions remains essential. Read the Global Carbon Budget 2024.
Soil DegradationThe episode discusses major global soil loss and degradation. A commonly cited estimate from the Food and Agriculture Organization of the United Nations is that nearly one-third of the world’s soils are degraded, posing a serious threat to food security. Soil degradation can include erosion, loss of organic matter, nutrient depletion, contamination, salinization, compaction, and reduced biodiversity. Because estimates vary depending on definitions and measurement methods, overly specific claims about the exact amount of topsoil lost should be interpreted with caution unless tied to a specific source. Read more from FAO.
Nutrient Density and Food QualityThe film and episode discuss the idea that regenerative agriculture can support more nutrient-dense food. There is emerging research suggesting that soil health, microbial diversity, plant biodiversity, and farming practices may influence nutrient profiles in food. However, this is still an active area of research, and outcomes likely vary by crop, region, soil type, farming system, and measurement method.
A 2025 review in Frontiers in Nutrition describes regenerative agriculture as a promising pathway for producing nutrient-dense crops while also noting significant gaps in quantifiable research and policy needed for broader adoption. Read the review in Frontiers in Nutrition.
Watch Docuseries- Watch Kiss the Ground on Prime Video (First in Doc Series)
- Watch Common Ground on Prime Video (Second in Doc Series)
- Watch Groundswell on Prime Video (Third in Doc Series)
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12 June 2026, 9:00 am - More Episodes? Get the App