NEMHESYS-European Perspective on the Implementation of Next-generation Sequencing Into Clinical Diagnostics

Inmaculada Serramito-Gómez, Kathryn M Clarke, Ana Eugenia Rodríguez-Vicente, Julie E McGimpsey, María Abáigar, Carlos Barranquero Díez, Rocío Benito, Lars Bullinger, Ken I Mills, Jesús María Hernández Rivas

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Abstract

NGS Establishment in Multidisciplinary Healthcare (NEMHESYS) is an Erasmus+ programme with the purpose of providing qualified staff with the essential technical and bioinformatic knowledge and skills on next-generation sequencing (NGS) to be able to carryout NGS studies and perform some of the most common types of analyses. The clinical application of NGS has become easier with advancements in technologies. However, the investment needed to bring NGS into medical practice remains significant, with the scale of knowledge required being unprecedented at most hospitals. In addition, these novel technologies bring new challenges in translating NGS to clinical practice, at both technical and regulatory level, in terms of data management, interpretation of the results, and genetic counseling. All these aspects justify the consideration of what will be the precise role of NGS in diagnosis, risk assessment, response prediction, and treatment monitoring, today and tomorrow. Thus, to evaluate the implementation of NGS in European healthcare/research centers, a mapping survey was carried out, based on previous NGS mapping studies
Original languageEnglish
Article numbere541
Number of pages3
JournalHemaSphere
Volume5
Issue number3
DOIs
Publication statusPublished - Mar 2021

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