Abstract
Patients with Lynch syndrome (LS) have a significantly increased risk of developing colorectal cancer (CRC) and other cancers. Genetic screening for LS among patients with newly diagnosed CRC aims to identify mutations in the disease-causing genes (i.e., the DNA mismatch repair genes) in the patients, to offer genetic testing for relatives of the patients with the mutations, and then to provide early prevention for the relatives with the mutations. Several genetic tests are available for LS, such as DNA sequencing for MMR genes and tumor testing using microsatellite instability and immunohistochemical analyses. Cost-effectiveness analyses of different genetic testing strategies for LS have been performed in several studies from different countries such as the US and Germany. However, a cost-effectiveness analysis for the testing has not yet been performed in Taiwan. In this study, we evaluated the cost-effectiveness of four genetic testing strategies for LS described in previous studies, while population-specific parameters, such as the mutation rates of the DNA mismatch repair genes and treatment costs for CRC in Taiwan, were used. The incremental cost-effectiveness ratios based on discounted life years gained due to genetic screening were calculated for the strategies relative to no screening and to the previous strategy. Using the World Health Organization standard, which was defined based on Taiwan’s Gross Domestic Product per capita, the strategy based on immunohistochemistry as a genetic test followed by BRAF mutation testing was considered to be highly cost-effective relative to no screening. Our probabilistic sensitivity analysis results also suggest that the strategy has a probability of 0.939 of being cost-effective relative to no screening based on the commonly used threshold of $50,000 to determine cost-effectiveness. To the best of our knowledge, this is the first cost-effectiveness analysis for evaluating different genetic testing strategies for LS in Taiwan. The results will be informative for the government when considering offering screening for LS in patients newly diagnosed with CRC.
Highlights
Lynch syndrome (LS), referred to as hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant disease caused by mutations in DNA mismatch repair (MMR) genes [1]
Several genetic tests are available for LS, such as DNA sequencing for MMR genes and tumor testing using microsatellite instability (MSI) and immunohistochemical (IHC) analyses
We adopted the four screening strategies used in Mvundura et al [9] to evaluate the cost-effectiveness of the screening strategies for LS among relatives of patients newly diagnosed with colorectal cancer (CRC), while the population-specific parameters for Taiwan were used
Summary
Lynch syndrome (LS), referred to as hereditary non-polyposis colorectal cancer (HNPCC), is an autosomal dominant disease caused by mutations in DNA mismatch repair (MMR) genes [1]. The Evaluation of Genomic Application in Practice and Prevention (EGAPP) Working Group, sponsored by the Centers for Disease Control and Prevention (CDC) in the US, recommended offering genetic testing for LS to all patients who were newly diagnosed with CRC [6]. This universal screening for LS aims to identify mutations in patients newly diagnosed with CRC and to provide testing and increased surveillance to their relatives with the mutations. A recent study using German data reported that each of their evaluated screening strategies proved to be expensive [13], suggesting that findings from cost-effectiveness analyses for LS screening may vary in different countries
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