Population-Based BRCA1/2 Testing in Ashkenazi Jews: Ready for Prime Time

open access

 Conclusions

The work described in this commentary clearly shows both the feasibility and the impact of population-based testing in individuals of AJ descent. Individuals of AJ descent who are identified through population-based screening have been demonstrated to have the same cancer risks as those identified based on the strength of their personal or family history, and those with mutations have a high uptake of cancer screening and risk-reducing options. Additionally, population-based testing has been shown to be feasible, and such testing importantly results in a doubling of the numbers of carriers identified. Based on all of these factors, we believe that the time has come to offer population-based testing to individuals of AJ descent. Mechanisms must exist to provide appropriate pretest and posttest genetic counseling. Further efforts are needed to validate alternatives to traditional genetic counseling and to address the potential insurance and other barriers to testing.