title: Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia.
abstract: Endoglin (ENG) and ALK-1 mutations cause hereditary hemorrhagic telangiecstasia (HHT), an autosomal dominant disorder leading to vascular dysplasia in the form of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs). We proposed to compare two alternative strategies for management of HHT: screening HHT families with molecular diagnostic tests followed by targeted clinical screening versus conventional clinical screening. A decision analytic model was constructed to compare screening strategies for a hypothetical HHT family. The family consists of 1 index case and 13 relatives. The clinical screening protocol in use at the Canadian HHT Center in Toronto was assumed to be the standard of care. Unit costs for clinical screening (in Canadian dollars) were obtained from the 2003 Ontario Health Insurance Schedule of Benefits. Genetic screening costs were estimated for quantitative multiplex PCR and sequencing of Endoglin (ENG) and ALK-1 genes, as performed at HHT Solutions, Toronto. The genetic screening strategy resulted in a net cost of $4,060 per individual versus $5,975 for the clinical screening strategy. The genetic screening strategy would save $1,915 per family member or $26,810 saved per family. Sensitivity analyses revealed that the genetic screening strategy was cost saving over all plausible ranges of input variables for all hypothetical families tested. We concluded that a genetic screening strategy with targeted clinical screening is more economically attractive than conventional clinical screening and results in a reduction in the number of clinical tests for family members who do not have HHT.
authors.affiliation: Department of Medicine, Division of Respiratory Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Justine H
authors.initials: JH
authors.lastname: Cohen
authors.forename: Marie E
authors.initials: ME
authors.lastname: Faughnan
authors.forename: Michelle
authors.initials: M
authors.lastname: Letarte
authors.forename: Kirk
authors.initials: K
authors.lastname: Vandezande
authors.forename: Shelley J
authors.initials: SJ
authors.lastname: Kennedy
authors.forename: Murray D
authors.initials: MD
authors.lastname: Krahn
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D002648:Child; D003365:Costs and Cost Analysis; D005192:Family Health; D005260:Female; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008403:Mass Screening / Q000191:economics / Q000379:methods*; D008875:Middle Aged; D013902:Radiography, Thoracic / Q000379:methods; D015203:Reproducibility of Results; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed