The PREDICT Study: Medically actionable outcomes and health care utilization of predictive genome sequencing results in a generally healthy adult population.

Abstract

Predictive genomic screening (GSCR) assesses health risks to implement proactive medical or lifestyle changes in the general population. We present data from a large-scale GSCR study regarding the genomic outcomes, health care utilization, and genetic counselor (GC) and clinician workload associated with returning GSCR results. The Preemptive Genome Discoveries Improving Care for Biobank Volunteers (PREDICT) study assessed the frequency of medically actionable (MA) genetic results in a cohort of 484 seemingly healthy participants. GC effort was measured via number and type of patient interactions. Health care utilization was evaluated via referral uptake volume and communication with primary care providers (PCPs). Some participants had MA results (13%); however, most (98.6%) had a non-MA finding requiring GC documentation. GC effort to return MA results was significant, with lifestyle changes, family member testing, or specialty referrals recommended nearly always (92%). Most participants acted on their MA results via interactions with PCPs, specialists, and adherence to referrals. Of the 76% of MA-related referrals that were completed, 80% included PCP involvement after GC or participant communication. This study supports the integration of GSCR while highlighting the importance of GC resources and PCP communication to ensure medical follow through for individuals with a MA genetic finding.