The Economic Value of Hereditary Cancer Testing: A Systematic Review.

Economic value of germline cancer predisposition testing in people with and without cancer

This systematic review, conducted according to PRISMA methodology in PubMed-Medline and Embase, assessed the economic value of germline hereditary cancer testing in articles published between January 2013 and December 2024. Of 27,087 unique articles identified, 56 were included, with considerable heterogeneity in testing strategies, uptake assumptions and comparators. Thirty-three studies (59%) examined breast, prostate, endometrial, pancreatic, ovarian and colorectal cancer. Among the 47 articles (83.9%) providing a willingness-to-pay threshold, 36 (76.6%) found base-case testing to be cost-effective or cost-saving, and 54.5% of the remaining 11 found at least one cost-effective scenario. The authors conclude that testing has economic value in people with cancer, in those with suspected hereditary predisposition and for identifying predisposition in people at unknown risk.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The message supports broader access to testing, but the proportion of favourable studies aggregates heterogeneous models, each with its own uptake and comparator assumptions: it is not a pooled estimate. The abstract does not specify the health systems modelled, a parameter that determines transferability to the French setting. Useful as an argument for payers, less so as evidence of the cost-effectiveness of any specific testing strategy.

Analysis by Dr Thibaut Benquey