Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers

Genet Med. 2020 May;22(5):831-839. doi: 10.1038/s41436-020-0751-3. Epub 2020 Jan 30.

Abstract

Purpose: Women who inherit a BRCA1 or BRCA2 pathogenic variant are at high risk of developing breast and ovarian cancer. Evidence for the effectiveness and cost-effectiveness of long-term management in clinical practice is lacking. The purpose of this study was to evaluate the real-world cost-effectiveness of BRCA carrier management within a structured clinical program.

Methods: Lifetime health outcomes and costs of clinical management for female unaffected BRCA carriers aged 20 were measured using a microsimulation model. For the intervention, women could attend a high-risk clinic, undergo risk-reducing surgery, and receive annual breast screening. Input data for the model was from a clinical database of 983 BRCA carriers. The comparator was no risk management. Outcomes were discounted at 5%.

Results: The incremental cost-effectiveness ratio for the program was $32,359 to $48,263 per quality-adjusted life-year (QALY). Limiting uptake of risk-reducing salpingo-oophorectomy to <50% of carriers decreased cost-effectiveness by $7000-8000 per QALY. Achieving perfect adherence to guidelines was less cost-effective for BRCA2 due to increased risk-reducing mastectomy costs with smaller incremental health benefit.

Conclusion: Long-term management of BRCA carriers within a structured clinical program is cost-effective. Suboptimal adherence to risk management guidelines can substantially affect outcomes and is an important consideration for future studies.

Keywords: BRCA; cancer; cost-effectiveness; modeling; prevention.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / therapy
  • Cost-Benefit Analysis
  • Female
  • Humans
  • Mastectomy
  • Mutation
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / prevention & control
  • Ovariectomy
  • Quality-Adjusted Life Years
  • Young Adult