Differences in Cascade Genetic Testing Among Families With Hereditary Cancer Risk

Are there differences in the uptake of cascade testing among relatives of individuals with hereditary cancer risk?In this cross-sectional study including 22 932 probands with pathogenic or likely pathogenic variants, 5559 (24.24%) had at least 1 relative pursue cascade testing, with the highest rates among non-Hispanic White probands and significantly lower rates among African American or Black, Asian, Hispanic, and Middle Eastern probands, even when controlling for socioeconomic status. The availability of free familial variant testing was not associated with a meaningful increase in cascade testing.These findings suggest that cascade testing remains markedly underused, and persistent demographic disparities suggest additional factors at play beyond financial access.

Corresponding Author: Randall Brand, MD, Department of Medicine, University of Pittsburgh, 5200 Centre Ave, Ste 409, Pittsburgh, PA 15232 (brandre@upmc.edu).

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