Disparities in genetic testing: Evaluation of reproductive carrier screening in the United States

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PURPOSE: To evaluate sociodemographic differences in US individuals screened with expanded versus small reproductive carrier panels at a single commercial laboratory. METHODS: A retrospective analysis of genetic and sociodemographic data (1-2020 to 9-2022) from female patients (18-45 years) that received expanded carrier screening (15-274 genes) or small-panel carrier screening (≤14 genes), excluding those from fertility clinics. Panel size and positive carrier result rates among different sociodemographic groups were assessed. RESULTS: Among 726,665 carrier screening tests, 14.7% were orders for expanded carrier screening. After adjustments, expanded carrier screening orders were 30% less likely to be from Black and Hispanic patients versus White patients (P ≤ .001), 28% less likely to be from patients living in distressed communities versus those in prosperous communities, and half as likely to be from patients with Medicaid insurance versus commercially insured (P ≤ .001). Fewer expanded carrier screening panels were received from Black and Hispanic individuals in prosperous communities compared with other racial/ethnic groups (P ≤ .001). Expanded panels identified 2.3 to 4.6 times more heterozygotes than smaller panels. CONCLUSIONS: Significantly fewer expanded carrier screening tests were from Hispanic and Black patients and those in economically distressed communities suggesting disparities in utilization. Accessible educational resources and consistent guideline recommendations for expanded carrier screening may improve equitable access.

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