Challenges in health technology assessments of genetic tests

In the past decade, the use of genetic tests has grown rapidly worldwide. These technologies are often used in prenatal screening, carrier testing, prognostic testing, and diagnostic testing. Standard methods for meta-analysis of diagnostic test accuracy and cost-effectiveness analysis may need adaptation for health technology assessments (HTAs) of genetic tests. We provide some considerations relevant to these evaluations. We briefly address the following challenges for HTAs of genetic tests: (I) performing Bayesian meta-analysis of diagnostic test accuracy for rare genetic conditions; (II) performing Bayesian meta-analysis of diagnostic test accuracy in the absence of a perfect reference standard; (III) constructing economic models that account for conditional dependence between tests in the absence of a perfect reference standard; (IV) ascertaining the true prevalence of genetic conditions for economic analyses; (V) defining the time horizon and specifying health outcomes for economic modelling; and (VI) cost item measurement and valuation.