Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer

Among the people who tested positive for non-founder #BRCA mutations, 89.7% [had] false-positive results. A false-positive result means the #genetic test shows you have a genetic mutation when you really don’t.

CONCLUSION

Direct to Consumer genetic testing misses >90% of BRCA1/2 pathogenic/likely pathogenic variants in individuals of non-AJ(non-Jewish) ancestry and about 10% of BRCA1/2 PLPV among AJ individuals. There is a high false-positivity rate for non-AJ BRCA 1/2 PLPV with DTC genetic testing.

https://ascopubs.org/doi/10.1200/PO.22.00695

Leave a comment