The Genomic Medicine for Everyone (Geno4ME) Study: Implementation of Whole Genome Sequencing for Population Screening in a Large Healthcare System
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Population-scale genomics programs may enable increased access to genomic medicine. The Genomic Medicine for Everyone (Geno4ME) program was established across the diverse seven-state Providence Health system to enable genomics research and genome-guided care pathways across patients’ lifetimes. Key components included targeted and multi-lingual outreach to underrepresented groups, a novel electronic informed consent (e-consent) and education platform, and whole genome sequencing (WGS) with clinical return of results and integration into the electronic health record (EHR) for 78 hereditary disease genes and four pharmacogenes. Clinical whole genome sequences were banked for research, programmatic expansion of returnable results, and variant reanalysis. The program provided genetic counseling, pharmacist support, and guideline-based clinical recommendations for patients and their providers. During the two years of the study, over 30,800 potential participants were contacted; out of these, 2,716 were consented to the study (of which 47.5% were people of color) and 2,017 had results returned. One hundred fifty-eight (7.8%) participants had an actionable gene variant in the hereditary disease panel, 294 (14.6%) of participants had a pharmacogenomic (PGx) recommendation for one or more of the supported medications reported at time of enrollment, and overall, 21.4% of participants had a test result with at least one medical intervention recommendation. Future work will involve strategies to maintain engagement and education around genomic medicine. We propose the Geno4ME model as a framework to integrate population health genomics into routine healthcare and present lessons learned that may aid in the design of future programs.
