• Mitchell K Higashi and David L Veenstra.
• Pharmaceutical Outcomes Research and Policy Program, Institute for Public Health Genetics, University of Washington, Seattle, Wash 98195, USA.
• Am J Manag Care. 2003 Jul 1; 9 (7): 493-500.

BackgroundDespite the fact that the Human Genome Project was completed only recently, genetic tests already have entered the marketplace, some with few or no long-term data to support their use. Managed care organizations will face reimbursement decisions for genetic tests on a growing scale, and they should have a framework in place to evaluate the clinical and economic outcomes of this new class of diagnostics.ObjectiveTo develop a set of criteria that could assist decision makers in evaluating the cost effectiveness of genetic testing.MethodsA literature review was conducted of marketed genetic tests and criteria used to evaluate the clinical and economic benefits of genetic testing. Criteria were developed and pilot-tested on currently available genetic tests in colon cancer, periodontitis, acute lymphoblastic leukemia, and anticoagulation.ResultsA robust cost-effectiveness analysis requires data demonstrating (1) genotype-phenotype association; (2) genetic variant prevalence; (3) clinical outcome severity and incidence; (4) interventions for the variant group; and (5) sensitivity, specificity, and timing of the assay result. In addition, calculating the number of patients who need to be screened based on the above factors is useful for evaluating genetic tests.ConclusionsWhen evaluating a genetic test for reimbursement, these criteria can help to: (1) quantify the potential clinical benefit and economic savings; (2) assess the robustness of a cost-effectiveness analysis; and (3) clarify areas where data are deficient. These criteria should be used to inform the decision-making process in the context of ethical, legal, and social issues related to genetic testing.

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