Omics technologies enable the measurements of genes (genomics), mRNA (transcriptomics), proteins (proteomics) and metabolites (metabolomics) and thus proved to be valuable tools for personalized decision-making in clinical practice. For their evaluation, a health technology assessment (HTA) framework is not standardized and accepted, yet. Therefore, we aim at designing an omics-technologies HTA evaluation framework to facilitate their assessment, through a mixed-method approach. This work is part of the ExACT project, which aims to produce a range of tools to facilitate the implementation of precision health in clinical practice.

A systematic review was conducted to identify the existing HTA frameworks used for the evaluation of omics-technologies. Desk research on the HTA agencies’ websites was performed to identify the reports on omics-technologies HTA evaluation frameworks used by these agencies. A questionnaire evaluating HTA agencies’ experience on evaluation of omics-technologies was designed. The new framework will be elaborated based on the findings from the three methodological steps, and will be validated through a Delphi process.

Twenty-three articles were included in the systematic review. The main identified HTA frameworks were ACCE and “Evaluation of Genomic Applications in Practice and Prevention” (EGAPP). The desk research showed that these frameworks were seldom used by HTA agencies, which for the evaluation of omics-technologies mostly refer to the HTA Core Model®, mainly assessing the following domains: clinical effectiveness and economic evaluation. Data collection process of the questionnaire HTA agencies’ experience is in progress.

Although two main HTA frameworks for the evaluation of omics-technologies have been identified, these frameworks are sporadically used by HTA agencies in their practice. The particular interest of HTA agencies on clinical effectiveness and economic evaluation, might potentially reflect the uncertainty and difficulties when evaluating omics-technologies. This could indicate that these HTA frameworks are not feasible and practical to be used in routine HTA agency processes for omics technologies, emphasizing the need for a new framework. Our methodological approach might contribute to the development of a new HTA framework, feasible and practical to use not only for HTA agencies.

Precision medicines rely on companion diagnostics to identify patient subgroups eligible for receiving the pharmaceutical product. Until recently, the Belgian public health payer, RIZIV-INAMI, assessed precision medicines and companion diagnostics separately for reimbursement decisions. As both components are considered co-dependent technologies, their assessment should be conducted jointly from a health technology assessment (HTA) perspective. As of July 2019, a novel procedure was implemented accommodating for this joint assessment practice. The aim of this research was to formulate recommendations to improve the assessment in the novel procedure.

This study evaluated the precision medicine assessment reports of RIZIV-INAMI of the last 5 years under the former assessment procedure. The HTA framework for co-dependent technologies developed by Merlin et al. for the Australian healthcare system was used as a reference standard in this evaluation. Criteria were scored as either present or not present.

Thirteen assessment reports were evaluated. Varying scores between reports were obtained for the domain establishing the co-dependent relationship between diagnostic and pharmaceutical. Domains evaluating the clinical utility of the biomarker and the cost-effectiveness performed poorly, whereas the budget impact and the transfer of trial data to the local setting performed well.

Based on these results we recommend three amendments for the novel procedure. (i) The implementation of the linked evidence approach when direct evidence of clinical utility is not present, (ii) incorporation of a bias assessment tool, and (iii) further specify guidelines for submission and assessment to decrease the variability of reported evidence between assessment reports.