Sociocultural and ethical considerations for the translation of genomic health applications.

Thesis (Ph.D.)--University of Washington, 2015Genomic health applications are poised to play a central role in precision medicine, a tailored approach to disease prevention and treatment that accounts for individual variability in genes, environments, and lifestyles. Precision medicine is hypothesized to improve both individual and population health outcomes by personalizing health care and public health interventions. Prior examples of interventions that improved individual health, but widened outcome gaps for disadvantaged groups suggest that translating public investments in precision medicine into population health benefits requires deliberate attention to health equity. The three studies that make up this dissertation therefore explored how sociocultural factors that place individuals at risk for experiencing health disparities shape the discovery, development, delivery, and health impact of genomic health applications. The first study focused on the discovery phase, developing a six-item instrument measuring conflation of observational biospecimen-based research and clinical care for use in Latino communities, who are currently underrepresented in genomic research. The final instrument demonstrated high internal consistency, evidence of content and construct validity, and no evidence of floor and ceiling effects. It can be used in future efforts to recruit Latinos into biomedical studies. The second study focused on the development and delivery of obesity prevention and control interventions that include messages about inherited and behavioral risk factors. We described variation in beliefs about the causes of obesity (inheritance, diet, and physical activity) by ethnicity and acculturation indicators in women enrolled in a cohort study in South King County, Washington. Results showed that Hispanic and Caucasian women held different beliefs about inheritance and physical activity’s contribution to obesity; ethnic differences in genetic attributions were more pronounced than differences in physical activity attributions. Compared to Hispanic women who completed the study’s baseline questionnaire in English, Hispanic women who completed it in Spanish had a higher probability of not believing at all in inheritance as a contributor to obesity. We concluded that obesity-related interventions that emphasize genetic risk factors may be less relevant to low-acculturation Hispanic women without additional tailoring. The third study focused on the delivery and health impact of genetic counseling and testing for hereditary breast and ovarian cancer and examined whether routine referral to genetic counseling could help address current disparities in utilization by education level. Study results indicated that uptake of counseling after referral did not differ by education level, nor did referral’s effect on changes in genetic testing awareness and likelihood of subsequent genetic testing, which increased for all women. We concluded that systematic referral to genetic counseling may be a promising way to increase utilization of genetic services as well as address health care disparities by education level. Overall, these results help to improve our understanding of how sociocultural factors influence genomic translation. The dissertation suggests that trade-offs between effectiveness, efficiency, and equity goals are necessary to prevent intervention-generated inequalities and ensure that precision medicine approaches lead to population health benefits