Date of Award


Document Type

Thesis - Open Access

Degree Name

MS in Human Genetics

First Advisor

Laura Hercher


Healthy population genomic screening using whole exome and whole genome sequencing (WGS) is now used routinely in both clinical and research settings. Many studies return clinically actionable results to patients based on the ACMG list of 79 genes with pathogenic variants along with pharmacogenomic recommendations. Return of results in these settings is often done by providers without genetics training, who are then responsible for any resultant changes to patient care. The Providence Genomics and Genome Medical Geno4ME study provides patient-driven WGS, with results returned through a portal to their primary providers. This study was intended to investigate the efficacy and utilization of Just In Time (JIT) provider resource documents, along with the overall physician experience with Geno4Me results. We received survey responses from 35 of the 422 eligible providers who have received patients’ Geno4ME results. Of those who recalled receiving results, over half discussed the results with patients, while approximately a quarter enacted a change to patient care. Many noted barriers to integrating results into care, including lack of confidence in their knowledge of genetics and tailored care, logistical barriers such as time, and challenges in locating and utilizing resources. When surveyed about all genetic testing experiences, about half of all respondents described themselves as neutral or not confident in discussing hereditary risk and pharmacogenomics results. On average, those with the least and most clinical experience were most confident in discussing genetics results. Zero providers utilized or knew of JIT documents, highlighting underuse of this resource in the return of Geno4ME results. Our results suggest that more genetic training and better explanation of resources may help non-genetics providers integrate genetic testing into clinical care.