Landmark Study Reveals Magnitude of Uncertain Results in Clinical Genetic Testing for Hereditary Disease, Points to Evidence-Based Solutions to Reach Definitive Results

Provided By PR Newswire

Last update: Oct 25, 2023

– Findings set to enhance patient care and reduce uncertainty in test results as clinicians advance precision healthcare for hereditary disease –

SAN FRANCISCO, Oct. 25, 2023 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced findings from the largest study to date on uncertain results from hereditary disease genetic testing. Published in JAMA Network Open, the study evaluated data from more than 1.6 million individuals undergoing multi-gene panel testing across various clinical specialty areas. This study shares with the medical genetics community a dataset that broadly shows the prevalence and attributes of DNA variants of uncertain significance (VUS) and the approaches that help with reclassifying these variants into definitive results. These results underscore the need for detailed clinical information and results from appropriate family studies to facilitate proper interpretation..