Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic.
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.
Department of Radiation Oncology, University of California, Los Angeles, CA, USA. aukishan@mednet.ucla.edu.
Amar U
AU
Kishan
Department of Radiation Oncology, University of California, Los Angeles, CA, USA.
Caitlin L
CL
Gomez
Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, USA.
Nicole A
NA
Dawson
Santa Monica-UCLA Breast Center, University of California, Los Angeles, CA, USA.
Robyn
R
Dvorak
Department of Surgery, Division of General Surgery, University of California, Los Angeles, CA, USA.
Nova M
NM
Foster
Department of Radiology, University of California, Los Angeles, CA, USA.
Anne
A
Hoyt
Department of Hematology and Oncology, University of California, Los Angeles, CA, USA.
Sara A
SA
Hurvitz
Department of Surgery, Division of General Surgery, University of California, Los Angeles, CA, USA.
Amy
A
Kusske
Santa Monica-UCLA Breast Center, University of California, Los Angeles, CA, USA.
Erica L
EL
Silver
Department of Plastic Surgery, University of California, Los Angeles, CA, USA.
Charles
C
Tseng
Department of Radiation Oncology, University of California, Los Angeles, CA, USA.
Susan A
SA
McCloskey
D000328:Adult; D000367:Age Factors; D000554:Ambulatory Care Facilities; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D005820:Genetic Testing / Q000592:standards / Q000706:statistics & numerical data*; D006801:Humans; D008487:Medical History Taking; D008875:Middle Aged; D010348:Patient Care Team; D012017:Referral and Consultation / Q000706:statistics & numerical data*