OBJECTIVES: Next generation sequencing (NGS) is an increasingly important component of cancer care. Testing a person’s genetic material for known mutations can provide patients with information about the risk of future disease events, including diseases other than the primary condition (secondary findings; SFs). We describe an exercise in which these implications were explored using two previously-published policy models.

METHODS: Two policy models were used to estimate the impact of the return of SFs to a population of 10,000 colorectal cancer patients being tested for the risk of Colorectal Polyposis Syndromes (CRCPs) using a hypothetical NGS panel versus immunohistochemistry (IHC). The first model estimates the incremental costs and QALYs in a population of colorectal cancer patients and their relatives. The second model estimates incremental costs and outcomes in a population of healthy people being tested for a list of 56 identified genetic mutations published by the American College of Medical Geneticists. Net Monetary Benefit (NMB) was estimated using a value-based framework that also considers the value that people place on having information (VoK) about SFs, derived from a Discrete Choice Experiment conducted in the general Canadian population.

RESULTS

: In our baseline scenario, testing probands and their relatives resulted in a mean NMB of $4,596 (95% credible range: -3,904 – 16,845), suggesting that the return of SFs to people tested for CRCPs was mostly (79%) cost-effective at a willingness-to-pay threshold of $100,000. Using the NGS panel to test for CRCP alone was 74% cost-effective. When the VoK was incorporated into the NMB calculation, returning SFs was 86% cost-effective.

CONCLUSIONS: NGS testing is cost-effective in colorectal cancer patients, and our analysis suggests that the return of non-CRCP related SFs improves the cost-effectiveness of NGS testing, particularly when the VoK is considered. Returning SFs can be cost-effective provided that there is good cost-effectiveness evidence for the primary condition.