Utilization of BRCA1/2 genetic testing in the clinical setting: report from a single institution

Cancer. 2002 Mar 15;94(6):1876-85. doi: 10.1002/cncr.10420.


Background: Clinical testing for BRCA1/2 has been available since 1996. Interest in testing in the research and hypothetical situations has been consistently high, but there have been limited reports on its clinical utilization.

Methods: This is a retrospective study of BRCA1/2 test utilization by high-risk patients who were seen at the Johns Hopkins Breast and Ovarian Surveillance Service.

Results: Between February 1996 and December 1999, 258 families who had at least a 10% chance of carrying a BRCA1/2 mutation were offered genetic testing. Of these, 26 families seen between February 1996 and October 1996 had access to free testing. Overall, 68 of 258 (26%) underwent genetic testing. Educational level, number of children or daughters, breast carcinoma screening behavior, smoking and drinking behavior, perceived risk of breast carcinoma, and family history was not associated with test utilization. Eligibility for free testing, prior history of breast or ovarian carcinoma, Ashkenazi Jewish versus non-Ashkenazi Jewish heritage, genetic risk category, and age category were associated with test utilization, and in multivariate analysis, the first three remained statistically significant factors associated with genetic testing. Only 26% of the 50 patients who did not have access to free testing sought insurance reimbursement, of which greater than 50% (7 of 13) had a prior diagnosis of breast or ovarian carcinoma.

Conclusions: The actual utilization of BRCA1/2 genetic testing in a clinical setting is lower than in the research and hypothetical settings. Potential obstacles include cost, fear of insurance discrimination, and need to involve an affected family member in the testing process.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Breast Neoplasms / etiology
  • Breast Neoplasms / genetics*
  • Discrimination, Psychological
  • Family Relations
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Testing / statistics & numerical data*
  • Health Care Costs
  • Humans
  • Insurance Coverage
  • Mass Screening*
  • Middle Aged
  • Ovarian Neoplasms / etiology
  • Ovarian Neoplasms / genetics*
  • Retrospective Studies
  • Risk Factors