OBJECTIVES: Genetic testing technologies are becoming increasingly common in clinical practice to allocate treatment and identify patients at risk of certain conditions. This will lead to an increase of HTA for these technologies as health systems seek to incorporate them in clinical practice. The objective of the systematic literature review was to review health economic evaluations of genetic testing technologies and identify key trends.

METHODS: Searches were conducted using PubMed on July 10th, 2022. All articles reporting cost-effectiveness analyses of genetic tests were included for final review, and no other exclusion criteria were applied.

RESULTS: The search identified 1490 hits and 23 studies were included in the review. We identified 18 cohort Markov models (15 combined with decision tree models), one decision tree model and three microsimulation models. The majority of the studies (14) were related to genetic testing for different cancers (colorectal, breast, gastrointestinal and leukaemia). 17 out of the 23 models applied a healthcare system perspective, four applied both health care and societal perspectives and for two studies, the perspective of the analyses was not specified. Key cost categories included in the analyses were: Diagnosis related costs (including costs associated with setting up screening programmes), underlying disease management costs (including treatment, monitoring and follow up, progression and complications) and societal costs (including caregiver, productivity loss and out of pocket). Genetic testing performance was incorporated in the analyses through sensitivity and specificity of the genetic tests compared with standard clinical assessment. The vast majority of models (22) concluded that genetic testing resulted in health benefits (expressed as LYs or QALYs).

CONCLUSIONS: Our SLR highlights that there are no gold standards to conduct health economic evaluations of genetic testing technologies. Economic evidence for genetic testing is in its infancy and additional research is needed in this field.