Importance
BRCA testing is recommended for young women diagnosed with breast cancer, but little is known about decisions surrounding testing and how results may influence treatment decisions in young patients.
Objective
To characterize genetic testing patterns of utilization and the impact on treatment decision-making among young women with breast cancer.
Design
Cross-sectional analysis of data collected between November 2006 and December 2014 as part of the Young Women's Breast Cancer Study, an ongoing prospective cohort study.
Setting
Eleven academic and community medical centers.
Participants
897 women, age 40 and younger at breast cancer diagnosis.
Main outcome measures
1) Frequency and trends in the utilization of BRCA testing; 2) how genetic information is used to make treatment decisions among women who test positive vs. test negative for a BRCA mutation.
Results
87% of women reported BRCA testing by one year post-diagnosis, with the frequency of testing increasing among women diagnosed between 2006 and 2013 from 77% to 95%. Among untested women, 27% (32/117) did not report discussion of the possibility that they might have a mutation with a provider, and 37% (43 /117) were thinking of testing in the future. Approximately 30% (248/831) of women said that knowledge or concern about genetic risk influenced treatment decisions; among these women, 86% of mutation carriers, and 51% of non-carriers chose bilateral mastectomy. Fewer women reported that adjuvant treatment decisions were influenced by genetic risk concern.
Conclusions and relevance
Rates of BRCA1 and 2 mutation testing are increasing in young women with breast cancer. Given that knowledge/concern about genetic risk influences surgical decisions and may affect systemic therapy trial eligibility, all young breast cancer patients should be counseled and offered genetic testing, consistent with NCCN guidelines.