Geno4ME: establishment of an equitable whole-genome sequencing-based platform for clinical screening in a large healthcare system

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oregon; chiles; genomics; washington; isb; sjci; california


Recent population-wide genetic testing analyses suggest that over 1% of the general population are carriers for a clinically actionable single-gene genetic condition. In addition, approximately 80% of variability in drug efficacy and safety are attributed to an individual’s pharmacogenomics (PGx) profile. Here, we report the establishment of the Genomic Medicine for Everyone (Geno4ME) program across the highly diverse seven-state Providence Health System. Key components include targeted and multi-lingual outreach to traditionally underrepresented groups, a novel e-consent and education platform, and whole genome sequencing with clinical return of results via the Electronic Health Record (EHR) for 78 hereditary disease genes and four clinically relevant pharmacogenomics (PGx) genes. The program provides genetic counseling and pharmacist support for patients and educational resources and peer-to-peer support to assist providers in caring for patients with a positive result. Over the initial months of the study, over 23,000 potential participants were outreached; of this, 1,971 were consented to the study (of which 48.4% are people of color: 15.4% Hispanic, 14.9% Asian, 7.9% more than one race, 7.2% Black, 3.0% other) and 753 have had results returned so far. Fifty-two (7.0%) initial participants were found to have an actionable gene variant in the hereditary disease panel. Additionally, 111 (14.7%) of initial participants were currently taking one of the supported medications with a medical recommendation resulting from PGx genotype. Overall, 20.5% of initial participants had a test result with one or more medical intervention recommendations. Geno4ME plans to enroll up to 5,000 total participants within the next year and plans to expand the proportion of the genome that is included in the clinical deliverable and scheduled re-evaluation of variants for clinical significance. We propose this model as a viable, effective framework for population screening into routine healthcare and the whole-genome sequencing platform as key for continued reanalysis and long-term integration into routine clinical practice. This model specifically addresses issues of recruitment of diverse populations in genomics research and incorporating primary care provider education and genomics fluency into core program delivery.

Clinical Institute





Earle A. Chiles Research Institute


Presented at the ASHG Annual Meeting; October 25-29; Los Angeles, CA. 2022.

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