Toward representative genomic research: the children's rare disease cohorts experience.

ABSTRACT:

Background

Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such disparities due to non-inclusive self-reported race and ethnicity categories within the electronic health record (EHR). Inclusion and access for all populations is critical to achieve health equity and to capture the full spectrum of rare genetic disease.

Objective

We aimed to create revised race and ethnicity categories. Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children's Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical se

SUBMITTER: Frazier ZJ 

PROVIDER: S-EPMC10445838 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature