A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer

Value Health. 2017 Apr;20(4):547-555. doi: 10.1016/j.jval.2017.01.006. Epub 2017 Feb 23.


Background: The National Comprehensive Cancer Network recommends that women who carry gene variants that confer substantial risk for breast cancer consider risk-reduction strategies, that is, enhanced surveillance (breast magnetic resonance imaging and mammography) or prophylactic surgery. Pathogenic variants can be detected in women with a family history of breast or ovarian cancer syndromes by multigene panel testing.

Objectives: To investigate whether using a seven-gene test to identify women who should consider risk-reduction strategies could cost-effectively increase life expectancy.

Methods: We estimated effectiveness and lifetime costs from a payer perspective for two strategies in two hypothetical cohorts of women (40-year-old and 50-year-old cohorts) who meet the National Comprehensive Cancer Network-defined family history criteria for multigene testing. The two strategies were the usual test strategy for variants in BRCA1 and BRCA2 and the seven-gene test strategy for variants in BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, and PALB2. Women found to have a pathogenic variant were assumed to undergo either prophylactic surgery or enhanced surveillance.

Results: The incremental cost-effectiveness ratio for the seven-gene test strategy compared with the BRCA1/2 test strategy was $42,067 per life-year gained or $69,920 per quality-adjusted life-year gained for the 50-year-old cohort and $23,734 per life-year gained or $48,328 per quality-adjusted life-year gained for the 40-year-old cohort. In probabilistic sensitivity analysis, the seven-gene test strategy cost less than $100,000 per life-year gained in 95.7% of the trials for the 50-year-old cohort.

Conclusions: Testing seven breast cancer-associated genes, followed by risk-reduction management, could cost-effectively improve life expectancy for women at risk of hereditary breast cancer.

Keywords: BRCA; breast cancer; cost-effectiveness; multigene panel testing.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics*
  • Breast Neoplasms / economics
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / therapy
  • Cost-Benefit Analysis
  • Decision Support Techniques
  • Early Detection of Cancer / economics*
  • Early Detection of Cancer / methods
  • Female
  • Gene Expression Profiling / economics*
  • Genetic Predisposition to Disease
  • Genetic Testing / economics*
  • Health Care Costs*
  • Heredity
  • Humans
  • Life Expectancy*
  • Magnetic Resonance Imaging / economics
  • Mammography / economics
  • Mastectomy / economics
  • Middle Aged
  • Models, Economic
  • Patient Selection
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Quality-Adjusted Life Years*
  • Risk Assessment
  • Risk Factors
  • Watchful Waiting / economics


  • Biomarkers, Tumor