Rockville, MD – Today, the American Society of Human Genetics (ASHG) announced the launch of the ASHG Artificial Intelligence (AI) Initiative, a multi-part effort designed to promote and advance the responsible, effective use of AI across human genetics and genomics.
AI is rapidly transforming the ways scientists and clinicians interpret genomic data, improve diagnosis, advance personalized treatment strategies, and discover new therapeutic insights. Through this Initiative, ASHG will address the technical and ethical considerations of using AI in human genetics and genomics and create an actionable framework for how the human genetics and genomics community can harness AI and maximize its potential. This framework will provide recommendations for governance, standards, and ongoing education to enhance benefits for researchers, clinicians, and patients.
“We are entering a new era in human genetics and genomics—accelerating discovery, sharpening interpretation, and expanding what’s possible in research and care,” said ASHG President Susan A. Slaugenhaupt, PhD. “This Initiative brings leaders together to tackle important questions about responsible use of AI in research and develop actionable recommendations that strengthen both scientific rigor and public confidence. Our goal is to help the global genetics and genomics community use this rapidly evolving technology responsibly so that we can analyze large data sets and foster scientific breakthroughs.”
The ASHG AI Initiative’s core components include:
- An invitation-only, in-person AI Summit that will bring together thought leaders from academia, government, and industry to address challenges and opportunities in governing and standardizing AI’s use in human genetics and genomics.
- A two-day virtual symposium that will showcase cutting-edge research into the applications of AI in human genetics and genomics.
- A published report with recommendations and outcomes from the summit and virtual symposium, as well as an actionable “roadmap for the future” that ASHG will use to advance the application and governance of AI in human genetics and genomics research.
The ASHG AI Initiative Task Force, comprised of leaders in research, clinical genetics, and industry, will guide the initiative’s direction, shape convening agendas, and oversee the development of core deliverables. Marylyn Ritchie, PhD, Chief AI Officer at the Medical University of South Carolina chairs the task force which includes: Donavan Cheng, PhD (Ambry Genetics); Eric Green, MD, PhD (Illumina); Stephanie Kraft, JD (Geisinger); Danielle Luz, MD (Stanford University School of Medicine); Ankit Malhotra, PhD (AWS); Natalie Pageler, MD (Stanford University School of Medicine); Robert Nussbaum, MD (University of California, San Francisco); Olga Troyanskya, PhD (Princeton University); Jennifer Wagner, JD, PhD (Pennsylvania State University); Nephi Walton, MD (University of Utah); and Kenny Wong, MS, CGC (xCures).
ASHG is grateful to Ambry Genetics and Amazon Web Services (AWS) for sponsoring and participating in this important initiative.