Technology Assessment of Genetic Testing for a U.S. Health Insurance Corporation

A major U.S. health insurance company required a technology assessment to evaluate the possibility of providing routine coverage for a genetic test for a common inherited storage-disorder that has been linked to chronic health problems. The aim of the technology assessment was to determine whether, based on existing information, genetic testing could provide any benefit over biochemical analysis, the current standard of care, for the condition. We carried out a systematic and comprehensive review of the biomedical literature summarizing evidence provided from clinical and epidemiological studies to evaluate the sensitivity, specificity, and predictive value of the genetic test to detect the presence of the storage disorder and as compared to standard clinical practice (biochemcical evaluation). The final product was a quantitative decision analysis that was used by the client to guide the decision of their internal technology evaluation committee.

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