The Economic Value of Hereditary Cancer Testing: A Systematic Review

Identification of individuals with hereditary cancer syndromes may play a role in cancer prevention and reduce the incidence of advanced-stage cancers. This review investigated the economic value of hereditary cancer testing.

Following PRISMA methodology, we conducted a systematic literature review by searching PubMed-Medline and Embase to identify manuscripts published between January 2013 and December 2024 that assessed outcomes associated with GGT. This analysis describes articles assessing the economic value of GGT in individuals with and without cancer.

The search identified 27,087 unique articles, of which 56 were included. Considerable heterogeneity existed regarding the GGT strategies, uptake assumptions, and comparators used. Thirty-three (59%) examined the value of GGT in breast, prostate, endometrial, pancreatic, ovarian, colorectal cancer. Forty-seven (83.9%) articles provided author-determined willingness-to-pay thresholds. Of those, 76.6% (n=36) found base-case GGT analyses to be cost-effective/cost-saving. Of the 11 studies that failed to demonstrate base-case cost-effectiveness, 54.5% found at least one GGT scenario that was cost-effective.

In addition to patient benefits, there is economic value in using GGT to make clinical decisions. Existing evidence shows GGT use can be cost-effective among people with cancer, those with suspected hereditary predisposition, and identification of cancer predisposition in those with unknown risk.