Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic
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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.
KeywordsGenetic Testing Genetic Counselor National Comprehensive Cancer Network National Comprehensive Cancer Network Referral Rate
- 7.NCCN. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast and ovarian, v2.2016. NCCN.Google Scholar
- 16.Wood ME, Kadlubek P, Pham TH, et al. Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol. 2014;32:824–9.CrossRefPubMedPubMedCentralGoogle Scholar
- 26.NCCN. NCCN clinical practice guidelines in oncology: breast cancer, v2.2016. NCCN.Google Scholar
- 37.Schlich-Bakker KJ, Ausems MG, Schipper M, Ten Kroode HF, Warlam-Rodenhuis CC, van den Bout J. BRCA1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Breast Cancer Res Treat. 2008;109:507–14.CrossRefPubMedGoogle Scholar
- 39.Ralph J, Coates P. Counseling US women on BRCA testing, a new healthy people 2020 objective: findings from the national health interview survey, 2000–2005. Lansing, MI: Michigan. Department of Community Health Promoting Cancer Genomics Best Practives Steering Committee. 2010.Google Scholar