Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review

Aims: To systematically review the methods used in economic evaluations (EEs) included in health technology assessments (HTAs) of genetic testing technologies (GTTs). Methods: A systematic search using bibliographic databases and gray literature was undertaken to identify HTA reports on GTTs that included EEs in addition to clinical effectiveness results. Studies were reviewed in terms of methodology and reporting. Results: Of 361 identified citations, 15 HTAs consisting of 11 model-based and 4 trial-based EEs were included, more than 50% of which had moderate-to-low-quality scores mainly due to not reporting information on basic elements of a standard EE and inadequate management of uncertainty. Cost-effectiveness analysis accounted for 62% of studies. Approximately 66% of the studies adopted a third-party payer perspective, and 46% used a lifelong time horizon. The majority of studies exclusively included technical costs of testing (100%) and therapeutic or preventive interventions (60%). The most frequent variables tested in sensitivity analysis included costs (66%), effects (50%), and transition probabilities (58%). Conclusions: We found several methodological challenges in the reviewed EEs, including identification of a proper analytical perspective, inclusion of wider range of outcomes and costs, allowing for long-term medical and nonmedical impacts of genetic tests, and sufficient management of uncertainty. These issues should be carefully considered in future EEs of GTTs.