BACKGROUND
Inequities in genetic testing have been documented in a range of diseases, and no-charge genetic testing programs have been proposed as a means to enhance access. However, no studies have examined disparities in genetic testing for inborn errors of immunity (IEI) and the impact of no-charge programs on testing equity.
OBJECTIVE
To examine, socioeconomic, geographic, and racial disparities in the uptake of genetic testing for IEI in the US, and the impact of a no-charge sponsored program on testing equity.
METHODS
Retrospective cohort analysis of: (1) a national claims database capturing individuals with IEI (n=18,603), and (2) data from a clinical genetic testing laboratory capturing IEI patients participating in a no-charge sponsored program (n=6,681) and a non-sponsored program (n=29,579) for IEI genetic testing.
RESULTS
Among IEI patients captured in the claims database, those residing in areas of greater deprivation (OR 0.95, 95% CI 0.92-0.98), rural areas (OR 0.82, 95% CI 0.71-0.96), and non-White neighborhoods (OR 0.89, 95% CI 0.81-0.98) were less likely to undergo genetic testing. Participants of the sponsored IEI genetic testing program lived in areas of greater deprivation, compared with the non-sponsored program (median: 46 vs 42, p<0.001). However, minoritized racial groups were underrepresented in both the sponsored and non-sponsored programs, relative to disease burden.
CONCLUSION
We found significant disparities in genetic testing for IEI. Although eliminating financial barrier to testing reduced socioeconomic disparities in genetic testing for IEI, racial disparities persisted. Further research is needed to address barriers to testing among underserved populations.