HTA of next-generation sequencing for molecular diagnosis in Spain

In May 2021, the Agency for Health Quality and Assessment of Catalonia (AQuAS) published a report on next-generation sequencing (NGS) for molecular diagnosis and selection of therapeutic targets in oncological diseases.

In the field of oncology, NGS technologies play an important role as both the incidence and prevalence of cancer follow an upward trend. In Spain, different NGS equipment is established in some centers and hospitals. Although the content of the genetics is included in Annex III of Royal Decree 1030/2006, which establishes the portfolio of common services of the National Health System and the procedure for updating it, it does not provide details on each of the specific tests included in the common portfolio of services.

The objective of the report was to evaluate the available evidence in terms of safety, efficacy or effectiveness, economic cost, and impacts of NGS-based technologies in patients with an oncological disease or hereditary predisposition to cancer. In order to achieve the objective, the medical literature was systematically reviewed.

The identified studies (n=15) present favorable results on the diagnostic efficacy of the NGS-based gene panels, specifically for those syndromes of hereditary predisposition to cancer or oncological diseases for which it is required to sequence a considerable number of genes related to the pathology.

However, the evidence on the clinical effectiveness of NGS panels remains limited. It is suggested that Sanger’s method would continue to be the most appropriate when a single gene needs to be sequenced. Regarding costs, the available evidence suggests that NGS-based analyses in cancer should be carried out in a large number of patients to obtain a significant reduction in costs. It should also be noted that an information gap has been identified in the use of genome and exome sequencing techniques. Therefore, studies evaluating its diagnostic and clinical efficacy would be necessary to determine whether its implementation in practice could be relevant.

The full details in Spanish can be found here.

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