Health technology assessment of genetic and genomic applications: is it possible to standardize?

BACKGROUND: The assessment of genetic and genomic applications (GGA) has long been used ad hoc frameworks, often based on the ACCE model, while less used are more traditional health technology assessment (HTA) approaches. While ACCE frameworks are mainly focused on technical aspects, HTA ones often include economic and organizational aspects in their assessment. The aim of this study was to develop a framework able to address a comprehensive assessment of GGAs. METHODS: We analysed the most important HTA model currently used in EU, the EUnetHTA HTA Core Model, to identify any possible shortcomings in the evaluation of GGAs. The Sapienza framework, based on a previous systematic review of GGAs assessment frameworks, was used as a reference. The HTA Core Model applications were than used as a basis for an assessment framework for GGAs, classified according to ‘GGA function/Use setting’ pairs. RESULTS: The Sapienza framework found full correspondence in the HTA Core Model. The “Screening Technology” application was suitable for diagnostic, pre-symptomatic, predictive and carrier GGAs when used in screening settings. The “Diagnostic Technologies” application was appropriate for the pairs ‘Diagnostic/Diagnosis', ‘Pre-symptomatic/Diagnosis', ‘Prognostic/Staging’ and ‘Pharmacogenetic/Staging', although it may require additional considerations, such as the need of screening in case of germline mutations, the use of appropriate accuracy measures for prognostic GGAs, or the evaluation of the clinical utility of pharmacogenetic/prognostic GGAs. CONCLUSIONS: The proposed methodology aims to be a flexible tool that allows the GGA assessment according to a shared and validated methodology already in use for the HTA of medical devices, considering for their technical aspect, the clinical utility, the economic value, and the delivery models. Indeed, the HTA Core Model seems to fit the needs of GGAs assessment. However, some peculiarity of GGAs should be carefully considered during the HTA. KEY MESSAGES: • The EUnetHTA Core Model can provide a comprehensive framework for the evaluation of genetic and genomic applications, allowing a standardization with the procedures usually used for medical devices. • Some peculiar characteristics of genetic and genomic applications must be taken into consideration during their evaluation.