Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.

Creator(s)

Natalie J. Kane, Children's Mercy HospitalFollow
Ana S A Cohen, Children's Mercy HospitalFollow
Courtney D. Berrios, Children's Mercy HospitalFollow
Bridgette Jones, Children's Mercy HospitalFollow
T Pastinen, Children's Mercy HospitalFollow
Mark A. Hoffman, Children's Mercy Kansas CityFollow

Document Type

Article

Publication Date

9-2023

Identifier

DOI: 10.1016/j.gim.2023.100895

Abstract

PURPOSE: Persistent inequities in genomic medicine and research contribute to health disparities. This analysis uses a context-specific and equity-focused strategy to evaluate enrollment patterns for Genomic Answers for Kids (GA4K), a large, metropolitan-wide genomic study on children.

METHODS: Electronic health records for 2247 GA4K study participants were used to evaluate the distribution of individuals by demographics (race, ethnicity, and payor type) and location (residential address). Addresses were geocoded to produce point density and 3-digit zip code maps showing local and regional enrollment patterns. Health system reports and census data were used to compare participant characteristics with reference populations at different spatial scales.

RESULTS: Racial and ethnic minoritized and populations with low-income were underrepresented in the GA4K study cohort. Geographic variation demonstrates inequity in enrollment and participation among children from historically segregated and socially disadvantaged communities.

CONCLUSION: Our findings illustrate inequity in enrollment related to both GA4K study design and structural inequalities, which we suspect may exist for similar US-based studies. Our methods provide a scalable framework for continually evaluating and improving study design to ensure equitable participation in and benefits from genomic research and medicine. The use of high-resolution, place-based data represents a novel and practical means of identifying and characterizing inequities and targeting community engagement.

Journal Title

Genetics in medicine : official journal of the American College of Medical Genetics

Volume

25

Issue

9

First Page

100895

Last Page

100895

MeSH Keywords

Child; Humans; Ethnicity; Genomics; Research Design; Medicine

Keywords

Biomedical research; Electronic health records; Genomics; Health equity; Informatics

Comments

Grant support

• UL1 TR002366/TR/NCATS NIH HHS/United States

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Publisher's Link: https://www.gimjournal.org/article/S1098-3600(23)00908-5/fulltext

Recommended Citation

Kane NJ, Cohen ASA, Berrios C, Jones B, Pastinen T, Hoffman MA. Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment. Genet Med. 2023;25(9):100895. doi:10.1016/j.gim.2023.100895