Annals of Surgical Oncology

, Volume 23, Supplement 5, pp 634–641 | Cite as

Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic

  • 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
Breast Oncology



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.


Genetic Testing Genetic Counselor National Comprehensive Cancer Network National Comprehensive Cancer Network Referral Rate 
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Supplementary material

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Supplementary material 1 (DOCX 16 kb)


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Copyright information

© Society of Surgical Oncology 2016

Authors and Affiliations

  • Amar U. Kishan
    • 1
  • Caitlin L. Gomez
    • 1
  • Nicole A. Dawson
    • 2
  • Robyn Dvorak
    • 3
  • Nova M. Foster
    • 4
  • Anne Hoyt
    • 5
  • Sara A. Hurvitz
    • 6
  • Amy Kusske
    • 4
  • Erica L. Silver
    • 3
  • Charles Tseng
    • 7
  • Susan A. McCloskey
    • 1
  1. 1.Department of Radiation OncologyUniversity of CaliforniaLos AngelesUSA
  2. 2.Department of Pathology and Laboratory MedicineUniversity of CaliforniaLos AngelesUSA
  3. 3.Santa Monica-UCLA Breast CenterUniversity of CaliforniaLos AngelesUSA
  4. 4.Department of Surgery, Division of General SurgeryUniversity of CaliforniaLos AngelesUSA
  5. 5.Department of RadiologyUniversity of CaliforniaLos AngelesUSA
  6. 6.Department of Hematology and OncologyUniversity of CaliforniaLos AngelesUSA
  7. 7.Department of Plastic SurgeryUniversity of CaliforniaLos AngelesUSA

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