Development and Pilot Testing of Evidence-Based Interventions to Improve Adherence after Receiving a Genetic Result

Previous research indicates that population genomic screening can benefit individuals who act on the genetic results. However, there remains a significant gap between individuals receiving genetic information and acting on current risk management recommendations, prompting exploration of interventions to close this gap. This study aimed to determine the feasibility and acceptability and conduct a pilot implementation of existing evidence-based interventions (EBIs) for adherence to disease management for select genetic conditions among individuals ascertained through a population genomic screening program.

Surveys of and interviews with individuals who received a genomic screening result were conducted to assess barriers to guideline-recommended care and assess the acceptability of problem-solving (PS) and motivational interviewing (MI) EBIs to facilitate adherence to recommendations. A design thinking workshop was conducted with clinicians to co-develop an MI- and PS-based intervention that would fit with current workflows to be piloted. Post-pilot engagement sessions with implementers determined acceptability and feasibility of the MI/PS pilot program for clinical implementation and elicited proposed adaptations for improvement.

PS and MI EBIs were reported to be acceptable and feasible to individuals with a result, and barriers to performing recommended management were identified. The pilot program included outreach by genetic counselors to individuals with a result, review of a checklist of barriers, and delivery of PS or MI as appropriate to facilitate care. The protocol as piloted was deemed acceptable and feasible for clinicians to deliver, with adaptations suggested.

These results will inform an effectiveness trial to address gaps in adherence in patients who have received actionable genomic results.