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Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations
BACKGROUND: MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous MUTYH mutation carrier. Children o...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2007
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941726/ https://www.ncbi.nlm.nih.gov/pubmed/17605803 http://dx.doi.org/10.1186/1471-2350-8-42 |
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author | Nielsen, Maartje Hes, Frederik J Vasen, Hans FA van den Hout, Wilbert B |
author_facet | Nielsen, Maartje Hes, Frederik J Vasen, Hans FA van den Hout, Wilbert B |
author_sort | Nielsen, Maartje |
collection | PubMed |
description | BACKGROUND: MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous MUTYH mutation carrier. Children of MAP patients have an increased risk of inheriting two MUTYH mutations compared to the general population, implicating an increased risk for developing CRC. METHODS: Using data from the literature and Dutch MAP patients (n = 40), we constructed a Markov model to perform a societal cost-utility analysis of genetic screening in MAP families. Genetic screening was done by testing the spouse first and, in case of a heterozygous spouse, also testing of the children. RESULTS: The cost of genetic screening of families of MAP patients, when compared to no genetic screening, was estimated at €25,000 per quality-adjusted life year (QALY). The presence of Fecal Occult Blood testing (FOBT) population screening only slightly increased this cost-utility ratio to €25,500 per QALY. For a MUTYH heterozygote index-patient, the ratio was €51,500 per QALY. The results of our analysis were sensitive to several of the parameters in the model, including the cost assumed for molecular genetic testing. CONCLUSION: The costs per QALY of genetic screening in families of MAP patients are acceptable according to international standards. Therefore, genetic testing of spouses and/or children should be discussed with and offered to counselees. |
format | Text |
id | pubmed-1941726 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2007 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-19417262007-08-09 Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations Nielsen, Maartje Hes, Frederik J Vasen, Hans FA van den Hout, Wilbert B BMC Med Genet Research Article BACKGROUND: MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous MUTYH mutation carrier. Children of MAP patients have an increased risk of inheriting two MUTYH mutations compared to the general population, implicating an increased risk for developing CRC. METHODS: Using data from the literature and Dutch MAP patients (n = 40), we constructed a Markov model to perform a societal cost-utility analysis of genetic screening in MAP families. Genetic screening was done by testing the spouse first and, in case of a heterozygous spouse, also testing of the children. RESULTS: The cost of genetic screening of families of MAP patients, when compared to no genetic screening, was estimated at €25,000 per quality-adjusted life year (QALY). The presence of Fecal Occult Blood testing (FOBT) population screening only slightly increased this cost-utility ratio to €25,500 per QALY. For a MUTYH heterozygote index-patient, the ratio was €51,500 per QALY. The results of our analysis were sensitive to several of the parameters in the model, including the cost assumed for molecular genetic testing. CONCLUSION: The costs per QALY of genetic screening in families of MAP patients are acceptable according to international standards. Therefore, genetic testing of spouses and/or children should be discussed with and offered to counselees. BioMed Central 2007-07-02 /pmc/articles/PMC1941726/ /pubmed/17605803 http://dx.doi.org/10.1186/1471-2350-8-42 Text en Copyright © 2007 Nielsen et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Nielsen, Maartje Hes, Frederik J Vasen, Hans FA van den Hout, Wilbert B Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations |
title | Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations |
title_full | Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations |
title_fullStr | Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations |
title_full_unstemmed | Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations |
title_short | Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations |
title_sort | cost-utility analysis of genetic screening in families of patients with germline mutyh mutations |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941726/ https://www.ncbi.nlm.nih.gov/pubmed/17605803 http://dx.doi.org/10.1186/1471-2350-8-42 |
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