Next generation sequencing panels for the evaluation of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis
Gallego, Carlos J.
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<bold>Background:</bold> Next generation sequencing (NGS) panels are used frequently for the evaluation of colorectal cancer and polyposis (CRCP) syndromes in specialized cancer genetics clinics. We evaluated the cost-effectiveness of NGS panels as a first diagnostic step in the evaluation of these patients, and of adding groups of genes to these panels based their mode of inheritance and penetrance of colorectal cancer. <bold>Methods:</bold> We developed a decision model to estimate the cost-effectiveness of NGS panel testing in this population, and calculated the costs and health benefits of identifying relatives with the pathogenic variant in order to prevent colorectal cancer mortality through early surveillance colonoscopy. Using primary data to estimate allelic frequencies, we classified the CRCP syndromes in four groups, according to the mode of inheritance and the penetrance of colorectal cancer. We obtained incremental cost-effectiveness ratios to compare NGS panels to guidelines and pairs of panels according to the groups of genes tested. One-way sensitivity analysis was conducted. <bold>Results:</bold> When compared to standard of care, using NGS panels to evaluate CRCP in the genetics clinic resulted in an incremental cost effectiveness ratio between $40,000 and $66,000 per QALY. Testing only Lynch syndrome genes to the panel was not cost-effective (>$124,000 per QALY), but when adding genes associated with autosomal dominant conditions with high penetrance of colorectal cancer, the test was cost effective (<$69,000 per QALY). The addition of autosomal recessive genes represented less benefits but was very cost effective (<$15,000 per QALY), and even the addition of autosomal dominant pathogenic variants with low penetrance represented a good investment (<$86,000 per QALY). Sensitivity analysis didn't change the conclusions. <bold>Conclusion:</bold> NGS panels are cost-effective in the evaluation of CRCP in the medical genetics clinic, and most of this cost-effectiveness is driven by the identification of pathogenic variants in genes associated with autosomal dominant, highly penetrant conditions.