Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system.

ABSTRACT: The Genomic Medicine for Everyone (Geno4ME) study was established across the seven-state Providence Health system to enable genomics research and genome-guided care across patients' lifetimes. We included multi-lingual outreach to underrepresented groups, a novel electronic informed consent and education platform, and whole genome sequencing with clinical return of results and electronic health record integration for 78 hereditary disease genes and four pharmacogenes. Whole genome sequences were banked for research and variant reanalysis. The program provided genetic counseling, pharmacist support, and guideline-based clinical recommendations for patients and their providers. Over 30,800 potential participants were initially contacted, with 2716 consenting and 2017 having results returned

SUBMITTER: Lucas Beckett IA 

PROVIDER: S-EPMC12218075 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature