Who defines the "personal utility" of genetic and genomic testing? A systematic review

ImportanceExpansion in the clinical use of genetic and genomic testing has led to a recognition that these tests provide personal as well as clinical utility to patients and families. It is essential to ensure that members of diverse sociodemographic backgrounds are included in defining and measuring personal utility. ObjectiveTo determine the demographics of participants contributing to the development of a definition of personal utility for genetic and genomic testing. Evidence ReviewWe searched PubMed, Scopus, Web of Science, and Embase for peer-reviewed literature published between 2003 and January 2022 on the personal utility of genetic or genomic sequencing. Our review included both qualitative and quantitative studies with samples that included patients, their family members, or the general public. Eligible studies could examine any clinical genetic or genomic test and required the use of the term "utility." Authors extracted and reviewed study and participant characteristics including number of participants, study location (U.S. or international), primary methodology (qualitative or quantitative), race and ethnicity, gender, income and education data. FindingsOur final review included 53 studies and 13,315 total participants. Gender was provided for 95.6% of participants (n=12,724), of whom 61.5% were female (n=7,823). Race and/or ethnicity was provided for 83.0% of participants (n=11,048), of whom 82.2% (n=9,083) were White. The remaining participants were identified as Hispanic/Latinx (5.5%, n=607), Asian American and Pacific Islander (3.8%, n=421), Black (3.5%, n=387), multiracial (0.2%, n=27), and various other racial or ethnic categories (3.7%, n=412). Educational attainment was reported for 82.6% of participants. Among these participants, 71.2% (n=7,830) had a bachelors degree or higher. Income was reported for 66.5% of participants (n=8,857), and 66% of these participants (n=5,831) reported income above the U.S. median. Conclusions and RelevanceOur results suggest that the concept of personal utility in genetic and genomic testing in the U.S. is disproportionately defined by the perspectives a narrow subset of the population - specifically non-Hispanic White, well-educated women with above-average household incomes. If we are to provide equitable care in the areas of genomics and genetics, we will need to expand research to include more diverse and representative samples. Key PointsO_ST_ABSQuestionC_ST_ABSWhat are the demographic characteristics of participants contributing to a definition of personal utility in genetic and genomic testing? FindingsThis systematic review included 53 studies and13,315 total participants. Demographic characteristics on gender were provided for 95.6% of participants, race and/or ethnicity for 83.0% of participants, educational attainment for 82.6% of participants, and income for 66.5% of participants. Participants were 61.5% female, 82.2% White, 71.2% had a bachelors degree or higher, and 66% reported income above the U.S. median. MeaningOur understanding of the utility of genetics and genomics lacks the perspectives of people with diverse sociodemographic characteristics.