DNA Today: A Genetics Podcast

#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:  
#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. 

#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 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. 

#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
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. 

#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 Reed
Many 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 Tickell
Rebecca 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
Fact Check & Context
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 Rates
The 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 Fertility
The 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 Climate
Regenerative 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 Degradation
The 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 Quality
The 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)
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 390 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.

#397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors

Recertification is changing for genetic counselors. The American Board of Genetic Counseling (ABGC) now requires completion of new Continuing Competence Learning Scenarios as part of maintaining the CGC credential.
These are not traditional quizzes with one correct answer. Each scenario presents a complex genetic counseling situation, followed by reflective questions, peer rationales, and educational resources designed to support lifelong learning and continuing competence.
To help us understand why this change was made and what genetic counselors need to know, we are joined by three guests from ABGC: Monica Marvin and Dr. Claire Davis, co-chairs of ABGC’s Continuing Competence Committee, and Heather Rich, Executive Director at Smithbucklin, who manages ABGC operations.
We break down why these Learning Scenarios were created, how the requirement works, what counts toward recertification, and how ABGC is approaching competence in a field where many real-world situations are nuanced, reflective, and shaped by context.
 
In This Episode, We Discuss:
Why ABGC reevaluated the recertification process for certified genetic counselors
What was missing from a recertification model based primarily on CEUs or reexamination
What Continuing Competence Learning Scenarios are, and what they are not
How these scenarios differ from traditional quizzes or tests
Why there may be more than one thoughtful way to respond to a complex genetic counseling situation
How panelist rationales help Diplomates understand the reasoning of other competent practitioners
How the new requirement is being phased in based on recertification cycle
What genetic counselors in current recertification cycles need to know about voluntary scenario completion
How each scenario earns 0.1 CEU and how those CEUs fit into existing recertification requirements
How often new Learning Scenarios will be published
How scenarios are developed and reviewed by ABGC’s Continuing Competence Committee
Why review by the DEIJ Committee is an important part of the process
How Learning Scenarios can address complex topics such as bias, cultural humility, access, identity, and patient-centered care
Whether future scenarios may expand beyond patient-facing clinical roles to include genetic counselors working as medical science liaisons, variant curators, educators, and other nontraditional roles
 
The Panel:
Monica Marvin, MS, CGC, is the Program Director for the University of Michigan Genetic Counseling Graduate Program and Clinical Professor of Internal Medicine and Human Genetics at the University of Michigan. Monica was the inaugural President of the Michigan Association of Genetic Counselors, the 2011 Chair of the National Society of Genetic Counselors Access and Service Delivery Committee and the 2014 Chair of the National Society of Genetic Counselors Payor Subcommittee. She also served on the Board of Directors for the National Society of Genetic Counselors in 2016 and 2017 and is a current member of the Accreditation Council of Genetic Counselors Program Review Committee. In addition, Monica serves on the Advisory Board for multiple genetic counseling programs, and is the co-chair of the American Board of Genetic Counselors Continuing Competence Committee. She received the 2014 Strategic Leader award from the National Society of Genetic Counselors and was instrumental in the 2018 passage of legislation to license genetic counselors in the state of Michigan. She is passionate about the provision of high-quality genetic counseling services.
 
Claire Davis, EDD, MS, CGC has contributed to the learning, growth, and development of genetic counselors for 19 years. She received her Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai in 2007. She earned a doctorate in Adult Learning and Leadership from Teachers College, Columbia University, completing a dissertation on how genetic counselors learn to incorporate innovations into their practice. A deep love of GC education prompted her to serve as a genetic counseling program director, course director, clinical supervisor, thesis advisor, simulation facilitator, committee volunteer, and author of articles and a book. She is currently Director of Curriculum for the Institute for Genomics at Sarah Lawrence College and Co-director of the Genome Health Analysis master’s program co-created with NYU Langone’s Grossman School of Medicine.
 
Heather Rich, MPA, ICE-CCP, is an Executive Director with Smithbucklin, bringing over 20 years of experience in certification, including oversight of more than 23 credentialing programs. She currently serves as Executive Director for the American Board of Genetic Counseling (ABGC). Ms. Rich possesses extensive expertise across all facets of certification, including governance, program development, and accreditation standards. She has successfully led multiple organizations through reaccreditation processes with both the American Board of Specialty Nursing Certification (ABSNC) and the National Commission for Certifying Agencies (NCCA). In addition to her professional responsibilities, Ms. Rich has been an active volunteer with the Institute for Credentialing Excellence since 2014 and currently serves as a Public Member on the Rehabilitation Nursing Certification Board.
 
Earn CEUs with Gene Pool Media’s “Listen and Learn” Course
Are you a genetic counselor looking to earn CEUs, but struggling to find the time to sit down and complete them? Gene Pool Media has you covered with Listen & Learn: A Rare Disease Podcast Course. 
This affordable CEU course allows you to earn credits by listening to a curated playlist of podcast episodes from Gene Pool Media shows, including DNA Today and All Access DNA, and completing a few short quizzes. The course features episodes focused on rare diseases and includes 10 hours of podcast content, meaning you can earn 1.0 CEU.
Whether you are commuting, at the gym, or relaxing at home, Listen & Learn makes it easy to learn, reflect, and earn CEUs through the power of storytelling.
Visit TheCEUShop.org/podcast to get started.
Resources and Links 
How to Complete an ABGC Continuing Competence Learning Scenario
ABGC Continuing Competence Learning Scenarios
ABGC: How to Recertify
ABGC Recertification Handbook
ABGC Continuing Education Standards
ABGC Committees in Action: Recent Developments and Plans
ABGC Portal
 
Related DNA Today Episodes
#312 What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program (with Dr. Claire Davis) 
#295 Genetic Counseling Board Exam Updates with ABGC (with Heather Rich)
#235 Genetic Counseling History: ABGC Formation 
#138 Genetic Counseling Boards Advice
#126 Adam Buchanan on ABGC Boards Exam
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 390 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. 

#396 Gene Therapy for Anxiety? Precision Psychiatry through CRISPR & RNA

Anxiety is one of the most common mental health conditions, but for many people, it can also feel deeply isolating. Current treatments such as therapy, SSRIs, and benzodiazepines can be life-changing, but they do not work for everyone, and they often manage symptoms rather than addressing the underlying biology of anxiety.
In this episode of DNA Today, host Kira Dineen is joined by Dr. Troy Rohn, neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. Dr. Rohn is also the author of Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, a brand new book exploring how CRISPR, RNA interference, neurogenetics, and precision psychiatry could reshape the future of mental health treatment.
We take a deeply personal and scientific look at anxiety. Dr. Rohn shares how his own experiences with chronic anxiety and PTSD helped inspire his work, while also explaining the brain biology behind anxiety, including the roles of serotonin, GABA, the amygdala, hippocampus, insula, and thalamus.
A major focus of the episode is the 5-HT2A serotonin receptor, produced through the HTR2A gene, and why this receptor has become an important target in Dr. Rohn’s preclinical research. Kira and Dr. Rohn explore how today’s treatments broadly influence serotonin signaling, while emerging gene-based approaches may someday allow researchers to more precisely reduce or silence specific pathways involved in anxiety.
The episode also breaks down the difference between CRISPR gene editing and RNA interference, including why reversibility, safety, off-target effects, and long-term consequences matter so much when discussing potential therapies for the brain. Dr. Rohn also explains one of the biggest challenges in the field: getting therapies across the blood-brain barrier.
Because this science is still preclinical, the conversation also focuses on how to talk about hope responsibly. Could gene therapy someday help treat anxiety at its source? Possibly. But there are major scientific, regulatory, ethical, and access questions that need to be answered before these approaches could become part of clinical care.
 
In This Episode, We Discuss:
The lived experience of anxiety, PTSD, and chronic hypervigilance
Why anxiety is shaped by both genes and environment
How current anxiety treatments work, including SSRIs, benzodiazepines, CBT, and service animals
Why SSRIs can help some people but fall short for others
The role of serotonin, GABA, and brain circuits in anxiety
What the 5-HT2A receptor is and why it matters
How the HTR2A gene leads to production of the 5-HT2A receptor protein
The difference between broadly changing serotonin levels and targeting a specific receptor pathway
How CRISPR could be used to make more permanent DNA changes
How RNA interference could offer a more temporary or reversible way to reduce gene expression
What preclinical animal studies can and cannot tell us
Why the blood-brain barrier is such a major challenge for brain-targeted therapies
Ethical questions around using gene therapy for mental health conditions
How to balance scientific excitement with caution and realistic expectations
 
Guest Bio
Dr. Troy Rohn is a neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. His research has focused on neurological disorders, including Alzheimer’s disease, anxiety, and memory impairment. In his book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, Dr. Rohn explores how gene therapy, CRISPR, RNA interference, and precision psychiatry could open new possibilities for treating anxiety and other brain-based conditions.
 
About the Book
Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders explores the future of mental health treatment through the lens of gene therapy and neurogenetics. Blending personal story with neuroscience, Dr. Troy Rohn examines how technologies like CRISPR and RNA interference may one day allow researchers to target anxiety-related pathways with greater precision than current medications.
The book also addresses the scientific and ethical complexities of this field, including safety, access, regulatory approval, the blood-brain barrier, and the challenge of moving from promising preclinical research to human clinical trials.
 
Key Terms
5-HT2A receptor: A serotonin receptor involved in brain signaling, mood, perception, cognition, and emotional processing.
HTR2A gene: The gene that provides instructions for making the 5-HT2A serotonin receptor.
SSRI: Selective serotonin reuptake inhibitor, a class of medications commonly used to treat anxiety and depression by increasing serotonin availability in the brain. Examples are Lexapro, Zoloft, Prozac, Paxil, among others. 
CRISPR: A gene-editing technology that can be used to make targeted changes to DNA.
RNA interference: A process that can reduce or silence gene expression by targeting RNA before a protein is made.
Blood-brain barrier: A protective barrier that helps regulate what substances can enter the brain from the bloodstream, making delivery of brain-targeted therapies especially challenging. Blood-brain border might be a more accurate and helpful term as some molecules are allowed past. 
Precision psychiatry: An emerging approach that aims to tailor mental health treatment based on a person’s biology, genetics, symptoms, and lived experience.
 
Resources & Links:
Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders by Dr. Troy Rohn
Cognigenics
 
Relevant DNA Today Podcast Episode:
#198 CRISPR Ethics with Sam Sternberg
#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1
#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2
#304 HBO’s “Six Schizophrenic Brothers” Sister and Advocate Lindsay Mary Galvin Rauch
#343 The First Child to Receive CRISPR for Duchenne? A Father’s Fight for a Cure
#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions
 
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 395 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. 

#395 Mapping Melanoma: How Spatial Biology Is Advancing Cancer Research

What if we could study melanoma not just cell by cell, but in the exact place those cells live inside the tumor?
That is the promise of spatial biology. In this episode of DNA Today, we explore how emerging genomic technologies are transforming melanoma research by allowing scientists to examine not only which cells are present in a tumor, but where they are located, how they interact, and why those relationships matter.
May is Melanoma Awareness Month, making this an important time to spotlight how tools like spatial transcriptomics, single-cell sequencing, and multiomics approaches are helping researchers better understand tumor behavior, immune response, and treatment resistance.
Joining us are Professors Thomas Tüting and Andreas Braun, German dermatologists and researchers whose work focuses on melanoma, tumor immunology, and translational cancer research. We are also joined by Dr. Jia Hui Khoo, Product Manager at MGI, who brings expertise in spatial biology and the technologies helping make this research possible.
Together, we discuss an exciting melanoma research project profiling human melanoma samples from the University Hospital Magdeburg’s biobank, using MGI’s DCSP approach, which spans DNA, cell omics, spatial omics, and proteomics. This work has the potential to deepen our understanding of melanoma biology, tumor heterogeneity, immune landscapes, and the future of precision oncology.
In this Episode, We Discuss:
How melanoma research and treatment have evolved, especially with the rise of immunology and immunotherapy.
Why human melanoma biobanks are so valuable for translational cancer research.
How spatial biology helps researchers understand tumors in context, not just as isolated cells.
Why the location of cells within a tumor matters for understanding melanoma progression and immune response.
How spatial transcriptomics and single-cell sequencing can reveal differences between patients who respond well to immunotherapy and those who do not.
What researchers hope to learn by profiling STOmics spatial transcriptomics datasets alongside matched single-cell datasets from human melanoma and mouse models.
How MGI’s DNBSEQ and STOmics technologies support oncology research.
What MGI’s DCSP approach brings to melanoma research by integrating DNA, cell omics, spatial omics, and proteomics.
Why high-resolution spatial technologies like Stereo-seq may be especially important for studying the tumor microenvironment.
How multiomics research could eventually inform biomarker discovery, patient stratification, therapeutic development, and the future of human pathology.
Guests: 
Professor Thomas Tüting, MD is Professor and Chairman of Dermatology at University Hospital Magdeburg in Germany, where his work focuses on tumor immunology, melanoma progression, metastasis, and resistance to cancer immunotherapy. He trained in dermatology at University Hospital Mainz and completed research training in experimental tumor immunology at the University of Pittsburgh. His research has explored how the immune system shapes melanoma biology, including the role of inflammation, tumor plasticity, and the tumor microenvironment in cancer progression and treatment response. In 2024, Professor Tüting was awarded an ERC Synergy Grant with collaborators at Uppsala University to advance immunotherapy research for malignant melanoma and brain tumors, with a focus on the vascular-immune interface and local anti-tumor immune activation. 
Professor Andreas D. Braun, MD is a dermatologist and researcher in the Department of Dermatology, Allergology and Venereology at the University Hospital Schlewsig-Holstein in Lübeck. His research centers on melanoma biology, tumor progression, metastatic spread, and mechanisms that influence response or resistance to immunotherapy. Professor Braun has co-authored studies on topics including Hgf-Met and BRAF signaling in melanoma, tumor-intrinsic Toll-like receptor 4 signaling, MHC-I downregulation, CD8+ T-cell infiltration, and metastatic spread in melanoma. His work bridges clinical dermatology and translational cancer research, with a focus on using molecular and immunologic insights to better understand melanoma behavior and treatment response.
Dr. Jia Hui Khoo specializes in spatial biology and single-cell technologies. She leads the DCS portfolio at MGI EU&AF, advancing the adoption of spatial biology solutions. DCS represents MGI’s three core technology areas: DNA genomics, cell omics, and spatial omics. She began her work at MGI by leading collaborations using Stereo-seq with research institutions across Europe and now drives product strategy for the company’s spatial multi-omics portfolio. 
Resources & Links
MGI’s Stereo-seq Technology 
MGI’s Spatial Temporal Omics
MGI Tech and NUS Pharmacy and Pharmaceutical Sciences Collaborate on Multi-Omics DCS Lab
Researchers from Uppsala and Magdeburg obtain an ERC Synergy Grant to advance cancer immunotherapy 
Relevant DNA Today Podcast Episode:
#392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism
#383 Inside the Brazilian Rare Genomes Project
#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing
#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey
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 390 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. 

#394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care.
In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-year, voluntary newborn genetic sequencing pilot program and established the Sunshine Genetics Consortium. The program allows parents to opt in to newborn genetic screening, including whole genome sequencing. The state allocated millions for the Sunshine Genetics Pilot Program, along with additional funding for the Florida Institute for Pediatric Rare Diseases.
To unpack what this could mean for rare disease diagnosis, pediatric genomic medicine, and the future of newborn screening, our host Kira Dineen is joined by Dr. Pradeep Bhide, Director of the Florida Institute for Pediatric Rare Diseases, and State Representative Adam Anderson, who championed the legislation after losing his son Andrew to Tay-Sachs disease at age 4. 
About Our Guests
Dr. Pradeep G. Bhide is the Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience, Director of the Florida Institute for Pediatric Rare Diseases, and Director of the Center for Brain Repair at the Florida State University College of Medicine. His work focuses on developmental neuroscience, pediatric rare disease research, precision diagnostics, and advancing treatments for children and families affected by rare genetic conditions.
Representative Adam Anderson represents District 57 in the Florida House of Representatives. He sponsored and championed the Sunshine Genetics Act, drawing from his family’s personal experience with rare disease after the loss of his son Andrew to Tay-Sachs disease. Through this legislation, Representative Anderson has helped position Florida as one of the first states to explore how genomic sequencing could be integrated into newborn screening and pediatric rare disease care. 
In This Episode, We Discuss:
How Representative Anderson’s son Andrew inspired his advocacy for newborn sequencing and rare disease legislation
What the Sunshine Genetics Act makes possible for families in Florida
How newborn genome sequencing could shorten or prevent the rare disease diagnostic odyssey
The role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the state
Why early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trials
How Florida’s approach fits into the broader global movement toward newborn sequencing, alongside programs such as Genomics England’s Generation Study, GUARDIAN in New York, BeginNGS at Rady Children’s, and NIH-funded BEACONS
What “whole genome sequencing” means in the context of this pilot, and how programs may distinguish between sequencing the whole genome and analyzing a targeted set of genes
How families may be educated about voluntary participation and informed consent
What types of results may be returned to parents and healthcare practitioners
How programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findings
The connection between earlier diagnosis and emerging gene-based therapies
What it takes to move complex genomic medicine legislation forward
How Florida is building infrastructure for pediatric genomic medicine
Which outcomes will matter most as the five-year pilot unfolds, including enrollment, sequencing metrics, clinical impact, public health impact, cost effectiveness, and economic benefits, which are included in the reporting requirements for the program. 
Why This Conversation Matters
For many families affected by rare disease, the search for a diagnosis can take years. Those years can include specialist visits, inconclusive testing, missed opportunities for early intervention, and emotional strain. Newborn sequencing raises the possibility of identifying certain serious genetic conditions before symptoms appear, allowing families and clinicians to act sooner.
At the same time, implementing newborn sequencing brings important questions: What conditions should be included? What results should be returned? How should parents be consented? How will privacy and data use be handled? What infrastructure is needed to support follow-up care? And how can programs ensure equitable access?
 
Relevant Resources: 
“Florida surges to forefront of rare disease research with boost from Sunshine Genetics Act” via Florida State University News
“Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via Forbes
The Florida Institute for Pediatric Rare Diseases; the Sunshine Genetics Pilot Program; the Sunshine Genetics Consortium
The International Consortium on Newborn Sequencing (ICoNS)
Florida Institute for Pediatric Rare Diseases at FSU
Genomic England’s Generation Study
Columbia and New York Presbyterian’s The GUARDIAN study 
Rady Children’s Institute for Genomic Medicine’s BeginNGS®
Building Evidence and Collaboration for GenOmics (BEACONS) in Nationwide Newborn Screening project via the NIH 
Relevant DNA Today Podcast Episode:
#172 PhenoTips: Advances in Rare Disease Diagnosis with Dr. Stephen Kingsmore
#281 Tay-Sachs with Dr. Matthew Goldstein of JScreen
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
 
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 390 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 the past four 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 Liv Davidson. And 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.

#393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap

Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families.
Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies.
In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families.
Topics Covered: 
The growing role of whole genome sequencing in rare disease diagnosis
How healthcare systems and clinical practices are adopting genome sequencing
How whole genome sequencing is changing pediatric patient care
Why some patients remain undiagnosed after initial WGS testing
The current diagnostic gap in rare disease genetics
Efforts underway to improve diagnostic yield
What a multimodal and multi-omic approach looks like in practice
How optical genome mapping and long-read sequencing complement WGS
How labs determine when to layer on additional technologies
The real-world impact of a confirmed diagnosis on treatment and trial access
About Dr. Christine Eng:
Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients.
About Chris Sands:
Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients.
Relevant Resources: 
Learn more about Baylor Genetics here
Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies
Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases
AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report
Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays
Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”
Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.
Undiagnosed Disease Network
 
Relevant DNA Today Podcast Episode:
#358 AGBT Precision Health 2025 Meeting Recaps and Reflections 
#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
#376 Why Females with Fabry Disease Aren’t “Just Carriers”
 
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 390 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 the past four 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 Liv Davidson. And 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.

#392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism

What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life. 
But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize. 
In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease. 
We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine. 
In This Episode, We Discuss:
Why DNA should not be viewed as static
What somatic mutations are and why they matter
The concept of mosaicism and what it means that every human is a mosaic
How Darwinian evolution can happen within the body
How mutation supports antibody diversity and immune defense
Clonal hematopoiesis and its links to cardiovascular disease and aging
Phenocopies and how spontaneous mutations can mimic inherited disease
Cases where cells appear to self-correct through additional mutations
Whether mutation accumulation may help drive aspects of aging
 
The Guest:
Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here.
 
Genetic Conditions Mentioned:
Progeria
Werner syndrome 
Hyper IgM syndromes
Adenosine deaminase severe combined immune deficiency (ADA-SCID)
VEXAS syndrome 
​​Paroxysmal nocturnal hemoglobinuria (PNH) 
Duchenne muscular dystrophy (DMD)
Genetic History Timeline Referenced:
1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin 
1916 - Ernest Tyzzer  first used the term ‘somatic mutation’ with respect to a tumour
1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick 
1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell
2003 - First draft of the human genome is announced complete.  
 
Relevant Papers:
Early somatic mosaicism is a rare cause of long-QT syndrome
Variations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences. 
The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis 
How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis. 
Trisomy rescue 
 
Science Fiction Recommendations - Genetics Edition
Kira’s Favorite - Orphan Black
Roxanne’s Favorite - Gattaca
Relevant DNA Today Podcast Episode:
#110 Gattaca, 22 Years Later
#134 Dr. Kat Arney on Cancer Evolution
#202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde
#250 Orphan Black: The Next Chapter with Madeline Ashby
#297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman
#306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics
#351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome)
#365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science
 
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 390 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. 
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.