Title |
Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic
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Published in |
Annals of Surgical Oncology, September 2016
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DOI | 10.1245/s10434-016-5545-0 |
Pubmed ID | |
Authors |
Amar U. Kishan, Caitlin L. Gomez, Nicole A. Dawson, Robyn Dvorak, Nova M. Foster, Anne Hoyt, Sara A. Hurvitz, Amy Kusske, Erica L. Silver, Charles Tseng, Susan A. McCloskey |
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 45 years 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 45 years 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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Members of the public | 2 | 100% |
Mendeley readers
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Unknown | 38 | 100% |
Demographic breakdown
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Student > Master | 6 | 16% |
Student > Bachelor | 4 | 11% |
Other | 4 | 11% |
Researcher | 3 | 8% |
Professor > Associate Professor | 3 | 8% |
Other | 7 | 18% |
Unknown | 11 | 29% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 6 | 16% |
Agricultural and Biological Sciences | 3 | 8% |
Business, Management and Accounting | 3 | 8% |
Social Sciences | 3 | 8% |
Other | 6 | 16% |
Unknown | 11 | 29% |