| Abstrakt: |
Gilchrist DM, Morrish DW, Bridge PJ, Brown JL. Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2.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 theRETproto-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 familialRETmutation. 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 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. [ABSTRACT FROM AUTHOR] |
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