AUTHOR=Pitini Erica , Baccolini Valentina , Migliara Giuseppe , Isonne Claudia , Sindoni Alessandro , Mazzalai Elena , Turatto Federica , De Vito Corrado , Marzuillo Carolina , Villari Paolo TITLE=Time to Align: A Call for Consensus on the Assessment of Genetic Testing JOURNAL=Frontiers in Public Health VOLUME=9 YEAR=2021 URL=https://www.frontiersin.org/journals/public-health/articles/10.3389/fpubh.2021.807695 DOI=10.3389/fpubh.2021.807695 ISSN=2296-2565 ABSTRACT=

In this paper, we updated our 2018 systematic review aimed to identify and compare ad hoc designed frameworks for genetic testing evaluation. Overall, we identified 30 frameworks (29 in the first systematic review and one in the update): they were mainly based on the ACCE model, whereas a minority were adjustments of the more traditional Health Technology Assessment (HTA) approach. After discussing the strengths and weaknesses of the retrieved frameworks, this perspective calls for consensus on the assessment of genetic testing. In line with the recent European recommendations that encouraged the generation of comparable evidence across Member States, we believe that the time has come to align all the ideas that have emerged over the last few decades and find a sustainable and sharable tool for the evaluation of genetic and genomic applications. Therefore, we suggest stopping the evaluation of such technologies using ad hoc strategies–affected by validation, implementation, and adoption issues–and we propose to use a general HTA approach, particularly the European reference tool for the assessment of health technologies, the EUnetHTA HTA core model, that is built on solid theoretical and methodological principles and provides a comprehensive assessment of the technologies value.