Digital tool for genetic cancer risk assessment in a historically underserved population: a randomized controlled...

Up to 95% of individuals with cancer-predisposing germline pathogenic variants in the U.S. remain unidentified, particularly among historically underserved populations.

In this 2-arm randomized controlled trial, we compared the proportion of high-risk patients identified and recommended for hereditary cancer syndrome genetic testing when risk assessment was performed by a digital tool vs usual clinician interview.

New gynecology patients at an urban academic clinic were randomized 1:1 to either a digital risk stratification tool or usual clinician-driven interview for genetic risk assessment. Eligibility for genetic testing was determined by criteria set forth by the National Comprehensive Cancer Network. The primary outcome was the proportion of high-risk patients identified and recommended for hereditary cancer syndrome genetic testing. The secondary outcomes were completion of genetic testing and exploration of patient factors including social determinants of health.

From January to December 2023, 100 patients enrolled in the study; 51 were randomized to genetic cancer risk assessment via digital tool and 49 via usual clinician interview. Thirty-nine (39%) patients self-identified as Hispanic, 23 (23%) as non-Hispanic White, 20 (20%) as non-Hispanic Black, 11 (11%) as Asian, 2 (2%) as mixed race, and 5 (5%) preferred not to answer. Most patients had Medicaid insurance (68; 68%), and 32 (32%) reported having a household income of less than $40,000. In the intervention arm, 44 (86%) completed the digital tool. Twenty-one (21%) patients were identified by study personnel as high-risk and met criteria for genetic testing (intervention: 8; control: 13). Use of the genetic cancer risk assessment tool was associated with a higher likelihood of high-risk patients being identified and recommended for genetic testing (7 [88%] vs 2 [15%]; P=.002). Among high-risk patients, 4 (50%) in the intervention arm and 2 (15%) in the control arm proceeded with genetic testing for hereditary cancers (P=.146). Within the intervention arm, social determinants of health did not impact use of the digital tool.

In a historically underserved population, the use of a digital genetic cancer risk stratification tool led to increased identification and counseling high-risk patients identified and recommended for genetic testing. The integration of a digital risk stratification tool may work toward mitigating disparities in utilization of genetic services.