Grand Rounds

Is Multigene Testing in All Women with Breast Cancer Cost-Effective? And is it a Good Idea?

BACKGROUND AND PURPOSE:

More pathogenic mutation carriers could be identified with genetic testing panels that incorporate more genes
- The cost-effectiveness of this approach has not been addressed
Sun et al. (JAMA Oncol., 2019) assessed cost-effectiveness of multigene testing of all patients with breast cancer compared to the current practice of determining eligibility for genetic testing based on family history or clinical criteria

Cost-effectiveness microsimulation modeling study
Setting
- United Kingdom (UK) and US populations
Participants and data sources
- Data from population-based breast cancer cohorts recruited to 4 large research studies
Strategies tested
- Strategy A
  - BRCA1/BRCA2/PALB2 (multigene) testing of all unselected patients with breast cancer
- Strategy B
  - BRCA1/BRCA2 testing only based on family history or clinical criteria
Study design
- Women identified as carriers could opt of prophylactic surgical procedures (e.g., mastectomy and/or risk-reducing salpingo-oophorectomy (RRSO)
- Relatives of mutation carriers underwent cascade testing and those who were carriers could potentially undergo
  - Magnetic resonance imaging or mammography screening
  - Chemoprevention
  - Risk-reducing mastectomy for breast cancer risk and RRSO for ovarian cancer risk
- Costs (2016 prices): Included genetic testing, pretest and posttest genetic counseling, breast cancer and ovarian cancer treatment, excess CHD after premenopausal RRSO, and productivity loss
Primary outcome: Incremental cost-effectiveness ratio (ICER) was calculated as incremental cost per quality-adjusted life-year (QALY) gained

Data from 11,836 patients were analyzed
Multi-gene panel with early detection of carriers and uptake of prophylactic measures could lead to
- UK
  - 1,142 fewer breast cancer cases
  - 959 fewer ovarian cancer cases
  - 633 fewer deaths due to breast or ovarian cancer
- US
  - 5,478 fewer breast cancer cases
  - 4,255 fewer ovarian cancer cases
  - 2,406 fewer deaths due to breast or ovarian cancer
Compared with current BRCA testing based on clinical criteria or family history alone, BRCA1/BRCA2/PALB2 multigene testing for all patients detected with BC annually would cost
- Payer perspective: £10,464/QALY
- Societal perspective: £7216/QALY
In the United States, BRCA1/BRCA2/PALB2 multigene testing for all patients detected with BC annually would cost
- Payer perspective: $65,661/QALY
- Societal perspective: $61,618/QALY
Results well below UK and US cost-effectiveness thresholds
8 excess deaths due to heart disease would have occurred in the UK and 35 in the United States annually

The authors claim that the results of this study found multi-gene testing for all women with breast cancer to be “extremely cost-effective” vs current guidelines where genetic screening is offered based on the clinical scenario and family history
- The authors of the study suggest that these results support a change in guidelines for genetic testing of women with breast cancer
However, Robson and Domchek, in their viewpoint piece published alongside this study, question the true clinical utility of multigene testing
- Existing guidelines do identify patients with known pathogenic variants that have clear therapeutic implications
- Larger testing panels will mean finding pathogenic variants that may not clear and well-studied treatment options
- Benefits of multigene testing to family members are not well established
  - May lead to harms from overtreatment
- Treatment options, especially those that may not be necessary can lead to additional costs that were not adequately factored in to this study

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