Enabling the Implementation of Next-Generation Sequencing into Clinical Diagnosis: Nemhesys Project

Training for the use and analysis of Next-Generation Sequencing (NGS) is uncommon, as shown by the lack of specialized health professionals in this area. This delays NGS implementation into the healthcare system, with the result that NGS solutions hardly ever translated into real and precise experiences. . NEMHESYS (NGS-Establishment in Multidisciplinary HEalthcare SYStem) is an Erasmus Plus Knowledge Alliance programme with the aim of improving the translation of NGS into clinical practice for hematological diagnosis and prognosis by providing clinical and biomedical staff with suitable training in NGS

NEMHESYS was initiated in March 2020 with partners from five Academic Institutions (University of Salamanca, Queen's University Belfast, University of Helsinki, Central European Institute of Technology (CEITEC) at Masaryk University and Charité University Medicine Berlin) and three small/medium enterprises (SME) (Artelnics, Mnemotix and IDimás). The project developed an online Masterclass for participants to complete over a 12-16-week period. The course, via the Moodle Platform hosted at the University of Helsinki, included a pre-module and five modules of which, in order to successfully pass the course, modules A & B were mandatory and at least one of the optional modules C, D or E. Regarding the contents, Module A was an introduction to all clinical and laboratory essentials for NGS in the clinic, whilst Module B was focused on all aspects of the analysis of NGS data. Module C looked at the barriers and risks around the implementation of NGS in health systems, Module D explored the role of artificial intelligence, linked data and knowledge graph, and Module E examined innovative programs and intra-entrepreneurship for NGS in the clinic.

Three cohorts of the NGS Masterclass were run (March 2021, October 2021, and February 2022). Registration was high for each of the cohorts (161, 253, and 172 participants, respectively). Around 75% of the participants were from Europe but a significant number were from USA, Brazil, Argentina, Egypt, Australia as well as from Africa and Middle Eastern countries. The background of the participants was reported to be medics, biomedical and clinical scientists, graduate students, and a small proportion of bioinformaticians. As expected, there was a large number who didn't participate further than registration, but overall, at least 180 participants across the three cohorts successfully completed the Masterclass program.

Additionally, participants who belonged to one of the five partner academic institutions, and had passed the online NGS training course, were entitled to apply for a learning mobility opportunity. Pre-covid this had been planned to for periods of 2 -12 weeks, but this was modified to enable more participants to be involved when considering covid related travel and other restrictions. Therefore, five Mobility Workshops were planned of one week duration at each of the academic centres, taking place from April to October (2022), and covering fundamental and of interest aspects of the application of NGS methodologies in the clinical practice and research. At the end, twenty-eight (28) participants were involved in the Mobility. The Brno hands-on workshop "Basic Skills in NGS: from PB sample to the Report" covered the clinical and laboratory essentials of NGS. The Salamanca workshop further explored novel technologies and trends in Real World NGS, whilst a focus on Precision Medicine and blood cancer diagnosis was covered by the Belfast workshop. Then, with more innovative methodologies, Charité covered the 4th generation Nanopore Technology, and the Helsinki workshop focused on Single Cell Sequencing Analytics.

Overall, the NEMHESYS Masterclass and mobility program achieved the aim of giving online and practical training to a significant number of clinical and biomedical participants around the globe in the use of NGS for hematological disorders. This will enable the delivery of higher quality clinical services.

PROJECT REF.: 612639-EPP-1-2019-1-ES-EPPKA2-KA.

Disclaimer: The European Commission support for the production of this publication does not constitute an endorsement of the contents that reflects the views only of the authors, and the Commission cannot be held responsible for any use that may be made of the information contained therein.

Hernández-Rivas:Amgen: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; GSK: Consultancy, Honoraria; Pfizer: Honoraria, Membership on an entity's Board of Directors or advisory committees; BMS: Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Research Support, Speakers Bureau; Celgene: Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Research support, Speakers Bureau; Novartis: Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Research Support; Janssen: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Roche: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Abbvie: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; AstraZeneca: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Beigene: Membership on an entity's Board of Directors or advisory committees; Lilly: Membership on an entity's Board of Directors or advisory committees; Gilead: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Takeda: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Jazz Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees; Rovi: Membership on an entity's Board of Directors or advisory committees; Incyte: Membership on an entity's Board of Directors or advisory committees. Bullinger:Astellas: Honoraria; Gilead: Honoraria, Membership on an entity's Board of Directors or advisory committees; Abbvie: Honoraria, Membership on an entity's Board of Directors or advisory committees; Jazz Pharmaceuticals: Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Celgene/BMS: Honoraria, Membership on an entity's Board of Directors or advisory committees; Novartis: Honoraria, Membership on an entity's Board of Directors or advisory committees; Bayer Oncology: Research Funding; Pfizer: Honoraria, Membership on an entity's Board of Directors or advisory committees; Janssen: Honoraria, Membership on an entity's Board of Directors or advisory committees. Heckman:Orion: Research Funding; Oncopeptides: Research Funding; IMI2 projects HARMONY and HARMONY PLUS: Research Funding; WntResearch: Research Funding; Novartis: Research Funding; Kronos Bio: Research Funding; Celgene: Research Funding.