title: Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2.
abstract: One of the major goals of genetic testing is the reduction of morbidity and mortality. Given the appropriate circumstances, this can result in reduction in health care costs. Such savings can be demonstrated most effectively in large families with mutations in well characterized, dominantly acting genes. In our large family, a point mutation TGC>CGC in exon 10 of the RET proto-oncogene, which results in a missense mutation (Cys620Arg), was identified in two individuals. The proband has medullary thyroid carcinoma (MTC), as did her deceased mother. One son has MTC and Hirschsprung's disease. The proband's mother had nine siblings; the proband has three siblings, another son, and 69 maternal cousins. Genetic testing has been performed on the closest relatives and has identified four individuals with, and 54 individuals without, a familial RET mutation. Significant cost savings have been realized in both genetic testing and clinical surveillance. In this family, for every at-risk individual identified as a true-negative, the minimum yearly savings in clinical surveillance is 508 dollars per person. As demonstrated by this case, economic costs of genetic diagnostics should take into account the potential saved monies in tests, both molecular and clinical.
authors.affiliation: Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: D M
authors.initials: DM
authors.lastname: Gilchrist
authors.forename: D W
authors.initials: DW
authors.lastname: Morrish
authors.forename: P J
authors.initials: PJ
authors.lastname: Bridge
authors.forename: J L
authors.initials: JL
authors.lastname: Brown
mesh_terms: D002170:Canada / Q000453:epidemiology; D018276:Carcinoma, Medullary / Q000235:genetics*; D003365:Costs and Cost Analysis; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005820:Genetic Testing / Q000191:economics*; D018095:Germ-Line Mutation / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000191:economics* / Q000235:genetics* / Q000601:surgery; D018814:Multiple Endocrine Neoplasia Type 2b / Q000191:economics* / Q000235:genetics* / Q000601:surgery; D015513:Oncogene Proteins / Q000235:genetics*; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics / Q000473:pathology; D013965:Thyroidectomy
chemical_list: C000715470:MAS1 protein, human; D015513:Oncogene Proteins; D000090063:Proto-Oncogene Mas; D004247:DNA; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; D020794:Receptor Protein-Tyrosine Kinases