Data for: Who defines the “personal utility” of genetic and genomic testing?
Miller, Emily et al. (2023), Data for: Who defines the “personal utility” of genetic and genomic testing?, Dryad, Dataset, https://doi.org/10.5061/dryad.79cnp5j0r
Importance: Expansion 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.
Objective: To determine the demographics of participants contributing to the development of a definition of personal utility for genetic and genomic testing.
Evidence Review: We 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.
Findings: Our 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 bachelor’s 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 Relevance: Our results suggest that the concept of personal utility in genetic and genomic testing in the U.S. is disproportionately defined by the perspectives of 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.
Our systematic review utilized and updated a widely-cited 2017 systematic review by Kohler et al on the personal utility of genetic and genomic testing. We updated Kohler et al’s original search string to account for changing terminology over time (e.g., including “perceived” as well as “personal” utility) and conducted a new search for studies subsequently published in the same databases.
Studies identified were screened for eligibility by two independent reviewers. Eligibility criteria included:
- Focused on perspectives of patients, their family members, or the general public;
- Focused on any clinical genetic or genomic test;
- Provided empirical data on participants’ perspectives of the “utility” of genetic or genomic tests;
- Published between August 2016(the date of Kohler et al’s final search) and January 2022;
- Published in English in a full-text form;
- Conducted in the United States.
National Human Genome Research Institute