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Time to Align: A Call for Consensus on the Assessment of Genetic Testing

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 w...

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Autores principales: Pitini, Erica, Baccolini, Valentina, Migliara, Giuseppe, Isonne, Claudia, Sindoni, Alessandro, Mazzalai, Elena, Turatto, Federica, De Vito, Corrado, Marzuillo, Carolina, Villari, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685239/
https://www.ncbi.nlm.nih.gov/pubmed/34938716
http://dx.doi.org/10.3389/fpubh.2021.807695
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author Pitini, Erica
Baccolini, Valentina
Migliara, Giuseppe
Isonne, Claudia
Sindoni, Alessandro
Mazzalai, Elena
Turatto, Federica
De Vito, Corrado
Marzuillo, Carolina
Villari, Paolo
author_facet Pitini, Erica
Baccolini, Valentina
Migliara, Giuseppe
Isonne, Claudia
Sindoni, Alessandro
Mazzalai, Elena
Turatto, Federica
De Vito, Corrado
Marzuillo, Carolina
Villari, Paolo
author_sort Pitini, Erica
collection PubMed
description 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.
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spelling pubmed-86852392021-12-21 Time to Align: A Call for Consensus on the Assessment of Genetic Testing Pitini, Erica Baccolini, Valentina Migliara, Giuseppe Isonne, Claudia Sindoni, Alessandro Mazzalai, Elena Turatto, Federica De Vito, Corrado Marzuillo, Carolina Villari, Paolo Front Public Health Public Health 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. Frontiers Media S.A. 2021-12-06 /pmc/articles/PMC8685239/ /pubmed/34938716 http://dx.doi.org/10.3389/fpubh.2021.807695 Text en Copyright © 2021 Pitini, Baccolini, Migliara, Isonne, Sindoni, Mazzalai, Turatto, De Vito, Marzuillo and Villari. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Public Health
Pitini, Erica
Baccolini, Valentina
Migliara, Giuseppe
Isonne, Claudia
Sindoni, Alessandro
Mazzalai, Elena
Turatto, Federica
De Vito, Corrado
Marzuillo, Carolina
Villari, Paolo
Time to Align: A Call for Consensus on the Assessment of Genetic Testing
title Time to Align: A Call for Consensus on the Assessment of Genetic Testing
title_full Time to Align: A Call for Consensus on the Assessment of Genetic Testing
title_fullStr Time to Align: A Call for Consensus on the Assessment of Genetic Testing
title_full_unstemmed Time to Align: A Call for Consensus on the Assessment of Genetic Testing
title_short Time to Align: A Call for Consensus on the Assessment of Genetic Testing
title_sort time to align: a call for consensus on the assessment of genetic testing
topic Public Health
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685239/
https://www.ncbi.nlm.nih.gov/pubmed/34938716
http://dx.doi.org/10.3389/fpubh.2021.807695
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