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Genetic Testing Not Carried Out For Nearly Half Of Breast Cancer Patients At Risk Of Having BRCA Mutations

Only 53 percent of newly diagnosed who were at high risk of carrying a 1 or 2 mutation – based on age, diagnosis, and family history of breast or – reported that their doctors urged them to be tested for the genes, according to a research team from the at the University of Pennsylvania.

The findings, which were presented during the Annual Meeting 2013 (Presentation #1358), were drawn from surveys completed by 2,258 women between 18 and 64 who were diagnosed with in Pennsylvanian in 2007.

While physician recommendations for genetic testing appeared to be targeted at the proper group of patients – just 9 percent of women at low risk of having one of the mutated genes were advised to undergo testing – the finding that such a large portion of high-risk women did not receive a testing recommendation underscores the need to improve provider education about the utility and availability of testing.

Among women at high risk of mutation, the analysis found that those who were older, had lower income, and were employed were less likely to have received a recommendation for testing.


The study was presented by Anne Marie McCarthy, PhD
University of Pennsylvania School of Medicine