Value of germline BRCA testing in patients with breast cancer: critical review of cost-effectiveness analyses using...

Testing for germline BRCA (gBRCA) mutations in patients with HER2-negative early breast cancer soon after diagnosis and before surgery (early testing) can influence surgical decisions, targeted adjuvant treatment access, and preventative care for relatives. The objective of this study was to identify evidence gaps in economic analyses of gBRCA testing in breast cancer.

We conducted a targeted literature review using MEDLINE to identify cost-effectiveness analyses (CEAs) of gBRCA testing in patients with breast or ovarian cancer published January 2014-April 2024. Ovarian cancer models were included given that gBRCA status also impacts treatment and family member decisions. To evaluate the comprehensiveness of these studies, we mapped components against value elements relevant to genetic testing, synthesized from published frameworks and literature.

A total of 26 CEAs of gBRCA testing were identified. Most studies (n = 17) assumed gBRCA testing increased risk-reducing surgeries (RRS), eight assumed gBRCA testing would guide poly adenosine diphosphate-ribose polymerase inhibitor (PARPi) use, and only one considered both. None assessed the value of early vs. late testing. We identified 21 value elements relevant to genetic testing; 15 CEAs included cascade testing, five included work productivity, and two included patient costs. When comparing gBRCA testing to no testing (n = 19), most studies concluded testing was cost-effective (n = 14).

No CEAs have assessed the value of early gBRCA testing or comprehensively modeled downstream impacts to RRS and PARPi use with consideration for broader value elements. Further studies are needed to assess the full value of early gBRCA testing strategies.