Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.

ABSTRACT:

Background

Identifying a precise genetic diagnosis can improve outcomes for individuals with rare disease, though the resources required to do so may impede access and exacerbate healthcare disparities leading to inequitable care. Our objective was therefore to determine the effect of multiple sociodemographic factors on the yield of the diagnostic evaluation for genetics outpatients.

Methods

This is a retrospective cohort study from 2017 to 2019 of outpatient genetics referrals at a pediatric academic tertiary care center. Exposures included: primary language, insurance type, and neighborhood resources (via the Childhood Opportunity Index, COI). The primary outcome was identification of a genetic diagnosis within 2 years of the initial clinic visit.

Results

COI quint

SUBMITTER: Wojcik MH 

PROVIDER: S-EPMC9892172 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature