Health Cognition Lab

PERSONALIZED MEDICINE – MOTIVATIONAL AND BEHAVIORAL IMPACT OF GENETIC TESTING FOR FAMILIAL CANCER

A primary goal of personalized medicine is to improve cancer outcomes through prevention and early detection. Predictive genetic testing provides the opportunity to learn in advance about the major health risks one is likely to face. For most hereditary cancers, the main recommendation following a positive test result is either accelerated screening or prophylactic surgery. In contrast, for melanoma, an aggressive and deadly form of skin cancer, genetic vulnerability (the highly penetrant p16 mutation, which confers a 76% lifetime risk to US residents) is thought to interact with personal behavior (UVR exposure) to influence disease risk. Thus, members of high-risk families are counseled to practice both primary prevention (reduce UVR exposure, prevent sunburns) and early detection (skin self-examinations, annual total body skin examinations).

Our studies were the first to prospectively examine the impact of melanoma genetic testing on prevention and screening behavior and psychological outcomes with sufficient sample size to distinguish patterns of response by both mutation status (positive vs. negative) and melanoma history (affected family members with a diagnosis of melanoma vs. unaffected family members who do not yet have a melanoma diagnosis). Overall, unaffected family members who received a positive melanoma genetic test result subsequently improved their prevention and screening behaviors to the same high level of adherence demonstrated by family members who had been diagnosed with the disease. These gains were sustained at a two-year follow-up, with multiple benefits and no increases in psychological distress reported. These findings have been influential in the development of international melanoma genetic testing guidelines.

In the NCI-funded BRIGHT Project (Behavior, Risk Information, Genealogy and Health Trial), we compare outcomes of melanoma genetic testing to equivalent counseling based on family history in order to evaluate any unique outcomes resulting from the provision of a genetic test result. What we are interested in learning is whether genetic test reporting matters to people at highly elevated familial cancer risk, and if so, why? Put differently, if people already know that they are at high risk from their family history, are there any benefits to receiving a genetic test result above and beyond the counseling and education about melanoma prevention that accompany the test report? Do people think or feel differently if they receive a positive genetic test that indicates a 76% lifetime chance of developing melanoma than if they receive information about highly elevated cancer risk but no test?

Federally Funded Research Our most recent findings from the NCI-funded BRIGHT Project successfully disentangle the receipt of a positive genetic test result from equivalent counseling based on family history alone and suggest considerable informational and motivational benefit for testing. Specifically, participants who received positive test results reported greater motivation to reduce sun exposure (Aspinwall et al., 2018) and were objectively less tan at the wrist one year later (Stump et al., 2020). These benefits do not appear to be accompanied by high levels of psychological distress or cancer worry.