Article Title

Effects of Systematic Referral to Genetic Counseling in High-Risk Women With and Without a College Degree

Publication Date



genetic services utilization, health care disparities


Background/Aims: Systematically identifying and referring women at high risk of hereditary breast and ovarian cancer to genetic counseling may minimize disparities in genetic services utilization. Our aims were to examine the effect of systematic referral on changes in testing-related cognitions and genetic services utilization and to test for effect-modification by education level.

Methods: In this secondary analysis of a randomized controlled trial, high-risk women (n = 625) were identified through electronic medical record data and mailed risk-assessment questionnaires. Women that provided informed consent were randomized to either referral to genetic counseling (n = 228) or standard clinical care (n = 230).

Results: Referral was associated with a 78% higher probability of participation in genetic counseling (95% confidence interval: 72%–83%, P < 0.01) and a 23% higher probability of undergoing genetic testing (95% confidence interval: 16%–30%, P < 0.01) compared to standard clinical care. There was no evidence of differential intervention effects by education level, though exploratory analyses showed women with at least a college degree had larger increases in ovarian cancer relative risk perceptions from baseline to directly following genetic counseling.

Conclusion: Systematically identifying and referring high-risk women to genetic counseling using electronic medical record data and mailed risk-assessment questionnaires increased genetic services utilization, regardless of education level. Widespread dissemination of similar approaches may lead to more equitable genetic services delivery and improve cancer-related outcomes for high-risk women.




June 29th, 2016


August 12th, 2016