Cost Analysis of the Molecular Screening and Genetic Diagnosis of Lynch Syndrome in Catalonia (Spain)

To assess the healthcare resources and costs of the molecular screening and genetic diagnosis of the Lynch Syndrome (LS) in Catalonia (Spain). A retrospective cost analysis was performed to assess the resource utilization and costs of the molecular screening and genetic diagnosis of the LS at the Hereditary Cancer Program of the Catalan Institute of Oncology (HCP-ICO) during the period 1999-2012. Clinical-administrative databases and unit prices of year 2010 obtained from HCP-ICO were used. Following a healthcare perspective, direct medical costs were used for analysis. The costs were assessed for individuals with colorectal cancer who met Amsterdam and Bethesda clinical criteria (criteria to identify high-risk candidates for molecular and genetic testing for LS). Colorectal cancer testing by analysis of microsatellite instability (MSI) and immunohistochemistry (IHC) of mismatch repair (MMR) proteins was performed on 338 probands (66 fulfilled Amsterdam criteria and 272 met Bethesda criteria). Among them, a total of 111 individuals completed genetic testing of MMR by Sanger sequencing. Sixty-six mutation carriers were identified (38 in Amsterdam and 28 Bethesda patients). The average cost per mutation detected was evaluated at €2,903 (95%CI: €2,642-€3,164) in Amsterdam cases, and at €8,761 (95%CI: €8,357-€9,165) in Bethesda patients. The results will help decision-makers involved in the planning and implementation phases of the screening programme, especially regarding the budget impact of the screening strategy as well as the additional hospital resources needed. It also allows to model different scenarios of screening organization (universal vs. molecular screening; NGS panels vs. Sanger sequencing).