Introduction:
Genetic testing enables precision medicine by improving disease risk awareness, prevention, and treatment. Despite national guidelines, fewer than 20% of eligible US patients with a personal or family history of breast or ovarian cancer undergo testing, with notable disparities by race, age, and insurance. Population-scale programs and point-of-care strategies, such as risk assessments during mammography, aim to address these gaps. This study evaluates the effectiveness of three outreach methods and clinic workflow variations on genetic testing participation among high-risk patients.
Methods:
The study was conducted at eight Providence Health and Services clinics in California. To evaluate the effectiveness of three outreach methods on genetic testing participation, high-risk patients were randomized to receive one of three methods: mailed brochure, email, and SMS text message. The effectiveness of two workflows was assessed retrospectively, comparing genetic testing among patients who were offered testing in the same building to those who were required to go to a different building. Descriptive and regression analyses were used to examine associations between outreach and workflow and test order rates. A stratified analysis by workflow was used to further examine associations between patient characteristics and genetic testing.
Results:
A total of 7,112 patients received outreach methods, and 16,965 were included in the retrospective analysis by workflow. Overall, genetic testing following outreach was low, less than 3%, and did not differ by outreach method. The different building workflow was associated with a lower order rate than the same building workflow (IRR = 0.72, 95% CI = 0.65–0.80). The differences in order rates by patient characteristics were larger in the different building workflow.
Conclusion:
The findings suggest that while outreach yields low engagement, low-cost methods such as email are feasible, and point-of-care access is critical for improving participation and equity. Health systems should prioritize same-day testing and provider capacity to expand access and reduce barriers.
