Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial

Area of Science:

• Genetics
• Oncology
• Primary Care Medicine

Background:

• Lack of established best practices for hereditary cancer risk assessment in primary care.
• Need for effective strategies to identify at-risk patients and facilitate genetic testing.

Purpose of the Study:

• To compare two population-based engagement strategies for hereditary cancer risk assessment and genetic testing.
• Evaluate point of care (POC) versus direct patient engagement (DPE) for identifying eligible patients.

Main Methods:

• Cluster randomized trial (EDGE study) involving 12 clinics across three states.
• Compared POC (staff-led, pre-appointment) with DPE (outreach, at-home completion) for risk assessment.
• Offered no-cost saliva genetic testing kits to eligible patients meeting criteria.

Main Results:

• POC engagement yielded higher risk assessment completion (19.1% vs 8.7%) but similar genetic testing completion rates (1.5% vs 1.6%).
• POC approach had lower test completion among eligible patients (24.7% vs 44.7%) and identified fewer actionable pathogenic variants (3.8% vs 6.6%).

Conclusions:

• Point of care engagement effectively increases hereditary cancer risk assessment rates.
• Direct patient engagement may be more effective for genetic testing completion and identifying actionable variants.
• Combining engagement strategies could enhance both reach and impact in primary care settings.