Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations

<p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the genera...
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Autor*in:	Vasen Hans FA [verfasserIn] Hes Frederik J [verfasserIn] Nielsen Maartje [verfasserIn] van den Hout Wilbert B [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2007

Übergeordnetes Werk:	In: BMC Medical Genetics - BMC, 2003, 8(2007), 1, p 42
Übergeordnetes Werk:	volume:8 ; year:2007 ; number:1, p 42

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/1471-2350-8-42

Katalog-ID:	DOAJ070009821

Internformat


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520			\|a <p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p<
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allfields	10.1186/1471-2350-8-42 doi (DE-627)DOAJ070009821 (DE-599)DOAJed78a23202d14417b8d450c8192072a3 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Vasen Hans FA verfasserin aut Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p< Internal medicine Genetics Hes Frederik J verfasserin aut Nielsen Maartje verfasserin aut van den Hout Wilbert B verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 42 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 42 https://doi.org/10.1186/1471-2350-8-42 kostenfrei https://doaj.org/article/ed78a23202d14417b8d450c8192072a3 kostenfrei http://www.biomedcentral.com/1471-2350/8/42 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 42
spelling	10.1186/1471-2350-8-42 doi (DE-627)DOAJ070009821 (DE-599)DOAJed78a23202d14417b8d450c8192072a3 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Vasen Hans FA verfasserin aut Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p< Internal medicine Genetics Hes Frederik J verfasserin aut Nielsen Maartje verfasserin aut van den Hout Wilbert B verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 42 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 42 https://doi.org/10.1186/1471-2350-8-42 kostenfrei https://doaj.org/article/ed78a23202d14417b8d450c8192072a3 kostenfrei http://www.biomedcentral.com/1471-2350/8/42 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 42
allfields_unstemmed	10.1186/1471-2350-8-42 doi (DE-627)DOAJ070009821 (DE-599)DOAJed78a23202d14417b8d450c8192072a3 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Vasen Hans FA verfasserin aut Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p< Internal medicine Genetics Hes Frederik J verfasserin aut Nielsen Maartje verfasserin aut van den Hout Wilbert B verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 42 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 42 https://doi.org/10.1186/1471-2350-8-42 kostenfrei https://doaj.org/article/ed78a23202d14417b8d450c8192072a3 kostenfrei http://www.biomedcentral.com/1471-2350/8/42 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 42
allfieldsGer	10.1186/1471-2350-8-42 doi (DE-627)DOAJ070009821 (DE-599)DOAJed78a23202d14417b8d450c8192072a3 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Vasen Hans FA verfasserin aut Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p< Internal medicine Genetics Hes Frederik J verfasserin aut Nielsen Maartje verfasserin aut van den Hout Wilbert B verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 42 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 42 https://doi.org/10.1186/1471-2350-8-42 kostenfrei https://doaj.org/article/ed78a23202d14417b8d450c8192072a3 kostenfrei http://www.biomedcentral.com/1471-2350/8/42 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 42
allfieldsSound	10.1186/1471-2350-8-42 doi (DE-627)DOAJ070009821 (DE-599)DOAJed78a23202d14417b8d450c8192072a3 DE-627 ger DE-627 rakwb eng RC31-1245 QH426-470 Vasen Hans FA verfasserin aut Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p< Internal medicine Genetics Hes Frederik J verfasserin aut Nielsen Maartje verfasserin aut van den Hout Wilbert B verfasserin aut In BMC Medical Genetics BMC, 2003 8(2007), 1, p 42 (DE-627)326643788 (DE-600)2041359-2 14712350 nnns volume:8 year:2007 number:1, p 42 https://doi.org/10.1186/1471-2350-8-42 kostenfrei https://doaj.org/article/ed78a23202d14417b8d450c8192072a3 kostenfrei http://www.biomedcentral.com/1471-2350/8/42 kostenfrei https://doaj.org/toc/1471-2350 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2007 1, p 42
language	English
source	In BMC Medical Genetics 8(2007), 1, p 42 volume:8 year:2007 number:1, p 42
sourceStr	In BMC Medical Genetics 8(2007), 1, p 42 volume:8 year:2007 number:1, p 42
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Internal medicine Genetics
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container_title	BMC Medical Genetics
authorswithroles_txt_mv	Vasen Hans FA @@aut@@ Hes Frederik J @@aut@@ Nielsen Maartje @@aut@@ van den Hout Wilbert B @@aut@@
publishDateDaySort_date	2007-01-01T00:00:00Z
hierarchy_top_id	326643788
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callnumber-first	R - Medicine
author	Vasen Hans FA
spellingShingle	Vasen Hans FA misc RC31-1245 misc QH426-470 misc Internal medicine misc Genetics Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations
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topic_title	RC31-1245 QH426-470 Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations
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title	Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations
ctrlnum	(DE-627)DOAJ070009821 (DE-599)DOAJed78a23202d14417b8d450c8192072a3
title_full	Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations
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author_browse	Vasen Hans FA Hes Frederik J Nielsen Maartje van den Hout Wilbert B
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title_sort	cost-utility analysis of genetic screening in families of patients with germline <it<mutyh </it<mutations
callnumber	RC31-1245
title_auth	Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations
abstract	<p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p<
abstractGer	<p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p<
abstract_unstemmed	<p<Abstract</p< <p<Background</p< <p<MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic <it<MUTYH </it<germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the general population about 1.5% is a heterozygous <it<MUTYH </it<mutation carrier. Children of MAP patients have an increased risk of inheriting two <it<MUTYH </it<mutations compared to the general population, implicating an increased risk for developing CRC.</p< <p<Methods</p< <p<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.</p< <p<Results</p< <p<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.</p< <p<Conclusion</p< <p<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.</p<
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title_short	Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations
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Cost-utility analysis of genetic screening in families of patients with germline <it<MUTYH </it<mutations

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