Faculty Collaboration Database

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review. JAMA Netw Open 2023 May 01;6(5):e2310367

Date

05/05/2023

Pubmed ID

37145601

Pubmed Central ID

PMC10163389

DOI

10.1001/jamanetworkopen.2023.10367

Scopus ID

2-s2.0-85159119618 (requires institutional sign-in at Scopus site)   14 Citations

Abstract

IMPORTANCE: The expansion of genetic and genomic testing in health care has led to recognition that these tests provide personal as well as clinical utility to patients and families. However, available systematic reviews on this topic have not reported the demographic backgrounds of participants in studies of personal utility, leaving generalizability unclear.

OBJECTIVE: To determine the demographic characteristics of participants in studies examining the personal utility of genetic and genomic testing in health care.

EVIDENCE REVIEW: For this systematic review, we utilized and updated the results of a highly cited 2017 systematic review on the personal utility of genetics and genomics, which identified relevant articles published between January 1, 2003, and August 4, 2016. We also used the original methods to update this bibliography with literature published subsequently up to January 1, 2022. Studies were screened for eligibility by 2 independent reviewers. Eligible studies reported empirical data on the perspectives of patients, family members, and/or the general public in the US on the personal utility of any type of health-related genetic or genomic test. We utilized a standardized codebook to extract study and participant characteristics. We summarized demographic characteristics descriptively across all studies and by subgroup based on study and participant characteristics.

FINDINGS: We included 52 studies with 13 251 eligible participants. Sex or gender was the most frequently reported demographic characteristic (48 studies [92.3%]), followed by race and ethnicity (40 studies [76.9%]), education (38 studies [73.1%]), and income (26 studies [50.0%]). Across studies, participants disproportionately were women or female (mean [SD], 70.8% [20.5%]), were White (mean [SD], 76.1% [22.0%]), had a college degree or higher (mean [SD], 64.5% [19.9%]), and reported income above the US median (mean [SD], 67.4% [19.2%]). Examination of subgroups of results by study and participant characteristics evidenced only small shifts in demographic characteristics.

CONCLUSIONS AND RELEVANCE: This systematic review examined the demographic characteristics of individual participants in studies of the personal utility of health-related genetic and genomic testing in the US. The results suggest that participants in these studies were disproportionately White, college-educated women with above-average income. Understanding the perspectives of more diverse individuals regarding the personal utility of genetic and genomic testing may inform barriers to research recruitment and uptake of clinical testing in currently underrepresented populations.

Author List

Miller EG, Young JL, Rao A, Ward-Lev E, Halley MC

Author

Meghan C. Halley PhD, BA, MPH Assistant Professor in the Institute for Health and Humanity department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Educational Status
Family
Female
Genomics
Humans
Income
Male