#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

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.”

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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.

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