Ancestry‐specific hereditary cancer panel yields: Moving toward more personalized risk assessment

Healthcare disparities in genomic medicine are well described. Despite some improvements, we continue to see fewer individuals of African American, Asian, and Hispanic ancestry undergo genetic counseling and testing compared to those of European ancestry. It is well established that variant of uncer...

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Veröffentlicht in:Journal of genetic counseling 2020-08, Vol.29 (4), p.598-606
Hauptverfasser: Roberts, Maegan E., Susswein, Lisa R., Janice Cheng, Wanchun, Carter, Natalie J., Carter, Amber C., Klein, Rachel T., Hruska, Kathleen S., Marshall, Megan L.
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Sprache:eng
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Zusammenfassung:Healthcare disparities in genomic medicine are well described. Despite some improvements, we continue to see fewer individuals of African American, Asian, and Hispanic ancestry undergo genetic counseling and testing compared to those of European ancestry. It is well established that variant of uncertain significance (VUS) rates are higher among non‐European ancestral groups undergoing multi‐gene hereditary cancer panel testing. However, pathogenic variant (PV) yields, and genomic data in general, are often reported in aggregate and derived from cohorts largely comprised of individuals of European ancestry. We performed a retrospective review of clinical and ancestral data for individuals undergoing multi‐gene hereditary cancer panel testing to determine ancestry‐specific PV and VUS rates. An ancestry other than European was reported in 29,042/104,851 (27.7%) of individuals. Compared to Europeans (9.4%), individuals of Middle Eastern ancestry were more likely to test positive for one or more pathogenic variants (12.1%, p = .0025), while African Americans were less likely (7.9%, p 
ISSN:1059-7700
1573-3599
DOI:10.1002/jgc4.1257