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Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan

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 patient...

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Autores principales: Chen, Ying-Erh, Kao, Sung-Shuo, Chung, Ren-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970721/
https://www.ncbi.nlm.nih.gov/pubmed/27482709
http://dx.doi.org/10.1371/journal.pone.0160599
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author Chen, Ying-Erh
Kao, Sung-Shuo
Chung, Ren-Hua
author_facet Chen, Ying-Erh
Kao, Sung-Shuo
Chung, Ren-Hua
author_sort Chen, Ying-Erh
collection PubMed
description 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.
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spelling pubmed-49707212016-08-18 Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan Chen, Ying-Erh Kao, Sung-Shuo Chung, Ren-Hua PLoS One Research Article 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. Public Library of Science 2016-08-02 /pmc/articles/PMC4970721/ /pubmed/27482709 http://dx.doi.org/10.1371/journal.pone.0160599 Text en © 2016 Chen et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Chen, Ying-Erh
Kao, Sung-Shuo
Chung, Ren-Hua
Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan
title Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan
title_full Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan
title_fullStr Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan
title_full_unstemmed Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan
title_short Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan
title_sort cost-effectiveness analysis of different genetic testing strategies for lynch syndrome in taiwan
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970721/
https://www.ncbi.nlm.nih.gov/pubmed/27482709
http://dx.doi.org/10.1371/journal.pone.0160599
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