Abstract
Findings show that 5-10% of women with a diagnosis of breast cancer (BCa) have actionable genetic mutations. The National Comprehensive Cancer Network guidelines for testing to detect BRCA1/2 mutations include personal history (PH) variables such as age of 45years or younger and a family history (FH) variables. Rates of FH documentation and overall rates of appropriate referral for genetic testing are low, ranging from about 30 to 60%. The authors hypothesized that an upfront FH documentation and inclusion of a genetics counselor in a multidisciplinary clinic (MDC) setting would increase rates of appropriate referral for genetic testing. The study enrolled 609 consecutive women with non-metastatic BCa seen in consultation between June 2012 and December 2015 at a multidisciplinary clinic. Rates of FH documentation and referral for genetic testing to detect BRCA1/2 mutations were assessed before and after inclusion of a genetic counselor in the MDC. The rates of FH documentation and appropriate referral were 100 and 89%, respectively. Half (50%) of the patients had only FH-based indications for testing. All the patients with PH-based indications were referred. The inclusion of a genetic counselor significantly increased appropriate referral rates among those with only FH-based indications (62 vs. 92%) and overall (80 vs. 96%) (p<0.0001 for both). Among the 12% of the patients with actionable mutations, 60% were 45years of age or younger, whereas 30% had only FH-based testing indications. This report shows substantially higher FH documentation and appropriate genetic testing rates than prior reports. Many patients with indications for genetic testing may have only FH-based indications for testing, and this subset may account for the sizable proportion of patients with newly diagnosed BCa who have actionable mutations.
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