DNA Today: A Genetics Podcast

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! 

 

We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing.

 

Our episode is broken into three segments…

 

Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands

Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro

Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger 

 

Relevant Resources: 

 

Baylor Genetics Segment Resources: 

Baylor Genetics Announces Enhanced Whole Genome Sequencing Test

Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies 

AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay

 

Illumina Segment Resources: 

Genomewide Sequencing Ontario Project 

Illumina’s Emedgene variant interpretation software 

Illumina’s Grand Rounds in Genomic Medicine 

Genome Aggregation Database (gnomAD) 

 

Ambry Genetics Segment Resources: 

Ambry Genetics’ Patient for Life website and white paper

Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield 

Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics 

Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access”

 

Relevant DNA Today Podcast Episode:

#182 Eric Green on the Complete Human Genome Project

#231 ChatGPT and AI In Genetics with Daniel Uribe

#285 AI To Enhance Variant Curation with Daniel Uribe

#297 Exome Reanalysis with Ambry Genetics

#303 RNA Analysis with Ambry Genetics

#325 Revolutionizing Variant Curation with MAVEs

#334 ACMG 2025 Recap

#358 AGBT Precision Health 2025 Meeting Recaps and Reflections

#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

 

Upcoming Conferences:

In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026…

Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego 

Podcast Movement in September in New York City 

American Society of Human Genetics (ASHG) in October in Montreal

National Society of Genetic Counselors (NSGC) in November in Baltimore  

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 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 our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics.

While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases.

Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and 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.

Topics Covered in This Episode:

RNAseq 101: What RNA sequencing is and how it complements DNA sequencing.

Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss.

Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care.

Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq.

Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant?

Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time.

When Results Are Inconclusive: How to handle unexpected or unclear RNA findings.

Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice.

Implementation Barriers: Challenges to scaling multi-omic testing in routine labs.

Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade.

Resources & Links:

Learn more about Baylor Genetics here

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

 

Connect With Us: 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 380 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].

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey.

 

In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades.

 

Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries.

 

Together, we discuss:

How rare disease care in Brazil compares to the U.S.

Why whole genome sequencing is a game changer for undiagnosed patients

Lessons learned from national-scale genomics initiatives

The role of public–private partnerships in sustaining innovation

What the future holds for rare disease diagnostics worldwide

Relevant Resources: 

MGI Tech

MGI’s Sequencing Platforms 

NeoGenomica

NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses.

100,000 Genomes Project by Genomics England

Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582

Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637.

 

Relevant DNA Today Podcast Episode:
#285 AI To Enhance Variant Curation with Daniel Uribe

#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI 

#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI

 

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 380 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].

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab. 

 

This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only.

 

To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link!  Don’t miss all the episodes this season! 

 

In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster? 

 

Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only.

 

 

Episode Discussion Topics:

The importance of clear definitions: functional vs. complete cures

Why developing universal medical cures is incredibly complex 

The role of clinical trials in developing potential medical cures

How AbbVie’s Pathway to Cures program fosters collaboration and innovation

The transformative impact of precision medicine and reverse translation

How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies

The emotional and practical significance of potential medical cures for patients and scientists

Relevant Resources: 

Listen to The Persistence Lab

AbbVie: Pathway to Cures

AbbVie: Can We Find Cures Faster Article

AbbVie: AI & Data Convergence

 

Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution.

In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever. 

Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms.

This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined.

Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations.

The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world.

 

Topics Discussed In This Episode:

An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species

Exploration of natural selection and Darwin’s enduring influence on modern biology

How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories

The role of horizontal gene transfer in microbial evolution and its significance

Highlights from Connecticut’s 2026 Darwin Day celebration

Charles Darwin’s “entangled bank” and its relevance today

What Darwin got right—and what modern science has updated

Natural selection at the gene level vs. organism level

Why evolution isn’t always gradual: rapid change and hybridization

Horizontal vs. vertical gene transfer explained

How viruses, bacteria, and other mechanisms move genes across species

The role of horizontal gene transfer in microbial evolution

Real-world implications for medicine, antibiotic resistance, and biotechnology

How curiosity and early inspiration shape scientific careers

The importance of science communication and public engagement

 

About Our Guest:
Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering.

 

About the Event:
This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. 

Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website. 
 

Relevant Resources: 

Gogarten Lab at The University of Connecticut

Dr. Johann Peter Gogarten’s LinkedIn Page

“Charles Darwin: History’s Most Famous Biologist” via Natural History Museum 

International Darwin Day Foundation 

The Connecticut Darwin Day website

Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut

HFFC’s Podcast, Humanism Today

Relevant DNA Today Podcast Episode:

#100 Carl Zimmer on Human Heredity 

#134 Dr. Kat Arney on Cancer Evolution

#335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution

Gene Pool Media: The Science Podcast Network:

DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below!

Humanism Today
RealPharma

Beyond The Thesis with Papa PhD

DNA Dialogues

It Happened To Me

All Access DNA

#ThroughTheGenes

Demystifying Genetics

PhenoTips Speaker Series 

Parálisis Cerebral Respuestas

Gods and Genes

Rare Rebels

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network.

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. 

 

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 380 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].