Implementing genetic screening into primary care for medically actionable conditions: Insights from a precision...

Population-wide genomic screening for medically actionable conditions has the potential to expand opportunities for early intervention and personalized healthcare to a broader group of people than traditional indication-based testing. Current clinical practices and operations present many barriers to the implementation of genetic screening in primary care settings. This study aimed to assess the reach, implementation, and effectiveness of a Precision Health Pilot Initiative (PHPI) at a large urban healthcare system in Southeast Michigan. Patients aged 18 or older at six preselected primary care sites were invited through the electronic medical record (EMR). Participants were screened at no cost for medically actionable conditions using the Invitae Genetic Health Screen gene panel (147-167 genes) associated with hereditary cancer, cardiovascular disease, metabolic disorders, and other medically actionable conditions. The PHPI genetic counselors (GCs) uploaded the results into the EMR, informed the primary care providers (PCPs) of positive results, and disclosed results to all participants via telephone. Among the 13,814 individuals who were electronically invited to participate in the PHPI, 42.9% opened the MyChart invitation within 48 h and 6.1% consented to participate. Individuals who completed genetic screening were predominantly female (60.8%), White (77.7%), with an average age of 54.7 (±14.7 SD). Implementation improvements, including a shift from paper-based to electronic consent, significantly reduced the time from invitation to consent (from 47.9 to 14.5 days; p < 0.0001). Among 858 individuals who completed testing, 50.1% had clinically significant findings, with 18.6% of individuals having pathogenic/likely pathogenic (P/LP) variants indicating personal health risk, and 42.2% identified as carriers. The majority of findings indicating personal risk were in genes associated with thrombophilias and hereditary cancer syndromes. The PHPI demonstrated the potential of population-wide genomic screening to identify medically actionable conditions and advance preventive healthcare. However, challenges remain regarding equity, accessibility, and resource allocation. Further research and collaboration are needed to refine screening protocols and ensure equitable implementation.