GeneDx, a leader in delivering improved health outcomes through genomic insights, announced today its scientific contributions will be presented at the 2025 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.

Featured as a Top 20 Poster, GeneDx will also present findings from an RNA sequencing program used to aid in variant of uncertain significance (VUS) resolution for patients that received exome-based testing for rare disease.

• Clinical Impact of RNA Sequencing on VUS Resolution in a Diverse Rare Disease Cohort of Over 100,000 Patients will be presented by Melanie Napier, MSc, MSc, CGC, CCGC (GeneDx) on Thursday, March 20 at 12:00 pm PT in the Exhibit Hall Learning Lounge and Friday, March 21 at 10:30 am PT at West Exhibit Hall A

“GeneDx’s research, collaborations and AI-powered innovations being presented at ACMG reflect our commitment to advancing the utilization of exome and genome testing to improve patient care,” said Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “By investing in industry-changing research and harnessing cutting-edge technology, we are enhancing the speed, accuracy, and impact of genetic insights, ultimately enabling a precise diagnosis, faster and better outcomes for patients, and also driving cost efficiency.”

GeneDx leverages its industry-leading dataset, exome and genome across numerous studies to advance clinical care for pediatric patients and showcase strong evidence to expand utilization. Through strategic collaborations with PacBio, GUARDIAN, and Seqfirst, GeneDx champions research to drive forward exome and genome sequencing as the standard of care in diverse clinical settings.

Source – BusinessWire