DOI: 10.5061/dryad.79cnp5j0r
title: Data for: Who defines the “personal utility” of genetic and genomic testing?

description: 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.
description: 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.