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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<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< Ausführliche Beschreibung