DNA Today: A Genetics Podcast

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 [email protected].

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 [email protected].

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 [email protected].

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 [email protected].

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 [email protected].