ASHG Virtual Symposium Explores How Artificial Intelligence Is Transforming Human Genetics and Genomics - ASHG

ASHG Virtual Symposium Explores How Artificial Intelligence Is Transforming Human Genetics and Genomics

For Immediate Release: Tuesday, September 15, 2026, 10:00am U.S. Eastern Time

Media Contact: Evelyn Mantegani, +1 (240) 833-2014, [email protected]

Rockville, Md. – The American Society of Human Genetics (ASHG) will host a two-day virtual symposium on September 24–25, bringing together researchers and clinicians who are applying the latest artificial intelligence and machine learning across human genetics, genomics, and precision medicine.

“The Intelligent Genome: Powered by AI” will examine how AI is accelerating scientific discovery, supporting genomic interpretation, and enabling new approaches to research and clinical care. The program will run from 9:30am to 3:00pm U.S. Eastern Time each day. Attendees will be eligible to claim 6 CE or 6 CEU credits for Genetic Counselors.

“Artificial intelligence is one of the fastest-growing areas in human genetics and genomics, so it is vital for our community to stay current on its applications and limitations,” said Elisha Roberson, PhD, ASHG Digital Learning Committee Chair. “This symposium will demonstrate the most recent use-cases in research and clinical settings and how to keep up with the fast pace of AI development while ensuring practitioners are applying the tools responsibly for the benefit of science and society.”

The symposium was designed to meet the needs of all professionals working across human genetics and genomics. The virtual format includes key-note presentations, panel discussions, and opportunities for Q&A. Topics include statistical genetics, target discovery, gene-expression prediction, rare-disease diagnosis, variant classification, multimodal risk assessment, and clinical implementation.

This event is one of many initiatives ASHG is leading to advance the responsible and effective use of AI in human genetics and genomics. Insights and discussions from the program will help guide the roadmap to best practices in the application and governance of AI across the field.

Session Highlights

VCEPilot: Agentic AI execution of ClinGen VCEP specifications achieves expert-aligned variant classification

September 25 at 10:00am – 10:30am U.S. ET | Presented by Xun Song, BS, New Jersey Institute of Technology

Researchers will present VCEPilot, an AI framework that translates ClinGen expert panel variant-classification specifications into machine-readable workflows and applies them transparently at scale. Across three ClinGen Variant Curation Expert Panels, VCEPilot achieved 80-88% agreement with expert classifications, demonstrating potential to reduce curator burden, accelerate variant interpretation, and support ongoing re-curation efforts.

A Generative Transformer Trained with Genetics for Forecasting an Individual’s Risk Across Many Diseases

September 25 at 1:30pm – 2:00pm U.S. ET. | Presented by Bertram Koelsch, PhD, 23andMe Research Institute

The presentation will describe the Next Health Event model, which uses ordered diagnoses, demographic information, longitudinal body mass index data, and polygenic risk scores to predict future health conditions. The research points toward disease-risk forecasting that considers multiple conditions and data types rather than evaluating diseases individually.

ASHG is grateful to Ambry Genetics and Amazon Web Services (AWS) for sponsoring and participating in this important initiative.

The complete program is available on the ASHG Learning Center. Please contact [email protected] for complimentary press registration.

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About the American Society of Human Genetics (ASHG)

The American Society of Human Genetics (ASHG) is the leading global organization advancing the science of human genetics and genomics. Representing nearly 8,000 researchers, clinicians, genetic counselors, educators, and other professionals, ASHG drives progress in understanding the human genome and its role in health and disease. The Society fosters innovation and collaboration through its flagship events and publications—including the ASHG Annual Meeting and its peer-reviewed journals The American Journal of Human Genetics and Human Genetics and Genomics Advances. ASHG also champions science advocacy, supports the next generation of genetics professionals, and promotes responsible policies and public engagement in genetics. Learn more at www.ashg.org.