Early Germline BRCA Testing in Breast Cancer: A Review of Value Frameworks and Cost-Effectiveness Analyses

Author(s)

Lucille A. Sun, PharmD, MS1, Qixin Li, MS, RPh, PharmD2, Amy Tung, PharmD, MS1, Xiaoqing Xu, MPH, PhD2, Adam Kasle, BA1, Yilin Chen, BSc, MPH, PhD1, David Veenstra, PharmD, PhD3;
1Curta, Seattle, WA, USA, 2AstraZeneca, Gaithersburg, MD, USA, 3University of Washington and Curta, Seattle, WA, USA

Presentation Documents

OBJECTIVES: Testing for germline BRCA (gBRCA) mutations in patients with HER2-negative early breast cancer (eBC) soon after diagnosis (early testing) can directly impact surgical treatment decisions, targeted adjuvant treatment access, and risk reducing measures for identified relatives. Given the importance of test timing and potential impacts, the objective of this study was to identify potential gaps in economic analyses of gBRCA testing.
METHODS: We conducted two targeted literature reviews to identify value frameworks related to genetic testing and cost-effectiveness analyses (CEAs) of gBRCA testing in patients with breast or ovarian cancer. Ovarian cancer was included given potentially similar model structure that may inform breast cancer CEAs. Studies published between January 2014 and April 2024 were identified in MEDLINE.
RESULTS: Eight value frameworks related to genetic testing were identified, from which we identified 21 value elements. A total of 26 CEAs of gBRCA testing were identified and reviewed for inclusion of value elements relevant to genetic testing. Fifteen studies modeled cascade testing, 5 studies included work productivity, and 2 studies considered patient costs. No studies explicitly assessed the impact of gBRCA test timing and most compared gBRCA testing in different populations or versus other gene panels. Almost all studies presented a payer perspective (n=25) and 6 studies included societal perspectives. Most studies (n=17) assumed gBRCA testing increased uptake of risk-reducing surgeries (RRS). However, only 8 studies assumed gBRCA testing would guide PARPi use and 1 study assumed gBRCA testing would guide both RRS and PARPi use.
CONCLUSIONS: Early gBRCA testing can impact healthcare decisions for eBC patients and their relatives, but no CEAs have assessed the value of early gBRCA testing or comprehensively considered impacts to RRS, adjuvant treatment selection, and other relevant value elements. Further studies are needed to comprehensively assess the value of early gBRCA testing strategies.

Conference/Value in Health Info

2025-05, ISPOR 2025, Montréal, Quebec, CA

Value in Health, Volume 28, Issue S1

Code

EE66

Topic

Economic Evaluation

Topic Subcategory

Novel & Social Elements of Value

Disease

No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Oncology, STA: Personalized & Precision Medicine

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