Tackling the implementation gap for the uptake of NGS and advanced molecular diagnostics into healthcare systems

Denis Horgan^{1

2}, Marc Van den Bulcke³, Umberto Malapelle⁴, Giancarlo Troncone⁴, Nicola Normanno⁵, Ettore D Capoluongo^{6

7}, Arsela Prelaj⁸, Carmelo Rizzari⁹, Dario Trapani¹⁰, Jaya Singh¹, Marta Kozaric¹, John Longshore¹¹, Manuel Ottaviano¹², Stefania Boccia^{13

14}, Gabriella Pravettoni^{15

16}, Ivana Cattaneo¹⁷, Núria Malats¹⁸, Reinhard Buettner¹⁹, Karim Lekadir²⁰, Francesco de Lorenzo²¹, Paul Hofman²², Ruggero De Maria²³

Affiliations

¹ European Alliance for Personalised Medicine, Brussels, Belgium.
² Department of Molecular and Cellular Engineering, Jacob Institute of Biotechnology and Bioengineering, Faculty of Engineering and Technology, Sam Higginbottom University of Agriculture, Technology and Sciences, Prayagraj - 211007, Uttar Pradesh India.
³ Belgian Cancer Centre, Sciensano, Brussels, Belgium.
⁴ Department of Public Health, University Federico II of Naples, 80131 Naples, Italy.
⁵ Istituto Nazionale Tumori "Fondazione G. Pascale" - IRCCS, Naples, Italy.
⁶ Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
⁷ Department of Clinical Pathology and Genomics, Azienda Ospedaliera Per L'Emergenza Cannizzaro, Catania, Italy.
⁸ Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
⁹ Unità di Ematologia Pediatrica, Fondazione MBBM, Università di Milano-Bicocca, Monza, Italy.
¹⁰ European Institute of Oncology, IRCCS, 20141 Milan, Italy.
¹¹ Astra Zeneca, 1800 Concord Pike, Wilmington, DE 19803, USA.
¹² Departamento de Tecnología Fotónica y Bioingeniería, Universidad Politècnica de Madrid, 28040 Madrid, Spain.
¹³ Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
¹⁴ Departments of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
¹⁵ Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
¹⁶ Applied Research Division for Cognitive and Psychological Science, European Institute of Oncology (IEO) IRCCS, Milan, Italy.
¹⁷ Novartis Farma SpA, 21040 Origgio, Italy.
¹⁸ Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
¹⁹ Lung Cancer Group Cologne, Institute of Pathology, Center for Integrated Oncology Cologne/Bonn, University Hospital Cologne, Cologne, Germany.
²⁰ Artificial Intelligence in Medicine Lab (BCN-AIM), Universitat de Barcelona, Barcelona, Spain.
²¹ European Cancer Patient Coalition, Brussels, Belgium.
²² Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d'Azur, 06000 Nice, France.
²³ Institute of General Pathology, Catholic University of the Sacred Heart, Rome, Italy.

PMID: 38234913
PMCID: PMC10792189
DOI: 10.1016/j.heliyon.2023.e23914

Tackling the implementation gap for the uptake of NGS and advanced molecular diagnostics into healthcare systems

Denis Horgan et al. Heliyon. 2023.

. 2023 Dec 20;10(1):e23914.

doi: 10.1016/j.heliyon.2023.e23914. eCollection 2024 Jan 15.

Authors

Affiliations

¹ European Alliance for Personalised Medicine, Brussels, Belgium.
² Department of Molecular and Cellular Engineering, Jacob Institute of Biotechnology and Bioengineering, Faculty of Engineering and Technology, Sam Higginbottom University of Agriculture, Technology and Sciences, Prayagraj - 211007, Uttar Pradesh India.
³ Belgian Cancer Centre, Sciensano, Brussels, Belgium.
⁴ Department of Public Health, University Federico II of Naples, 80131 Naples, Italy.
⁵ Istituto Nazionale Tumori "Fondazione G. Pascale" - IRCCS, Naples, Italy.
⁶ Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
⁷ Department of Clinical Pathology and Genomics, Azienda Ospedaliera Per L'Emergenza Cannizzaro, Catania, Italy.
⁸ Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
⁹ Unità di Ematologia Pediatrica, Fondazione MBBM, Università di Milano-Bicocca, Monza, Italy.
¹⁰ European Institute of Oncology, IRCCS, 20141 Milan, Italy.
¹¹ Astra Zeneca, 1800 Concord Pike, Wilmington, DE 19803, USA.
¹² Departamento de Tecnología Fotónica y Bioingeniería, Universidad Politècnica de Madrid, 28040 Madrid, Spain.
¹³ Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
¹⁴ Departments of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
¹⁵ Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
¹⁶ Applied Research Division for Cognitive and Psychological Science, European Institute of Oncology (IEO) IRCCS, Milan, Italy.
¹⁷ Novartis Farma SpA, 21040 Origgio, Italy.
¹⁸ Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain.
¹⁹ Lung Cancer Group Cologne, Institute of Pathology, Center for Integrated Oncology Cologne/Bonn, University Hospital Cologne, Cologne, Germany.
²⁰ Artificial Intelligence in Medicine Lab (BCN-AIM), Universitat de Barcelona, Barcelona, Spain.
²¹ European Cancer Patient Coalition, Brussels, Belgium.
²² Laboratory of Clinical and Experimental Pathology, Pasteur Hospital, Université Côte d'Azur, 06000 Nice, France.
²³ Institute of General Pathology, Catholic University of the Sacred Heart, Rome, Italy.

PMID: 38234913
PMCID: PMC10792189
DOI: 10.1016/j.heliyon.2023.e23914

Abstract

Next-generation sequencing (NGS) and liquid biopsy (LB) showed positive results in the fight against different cancer types. This paper aims to assess the uptake of advanced molecular diagnostics/NGS for quick and efficient genetic profiles of tumour cells. For that purpose, the European Alliance for Personalised Medicine conducted a series of expert interviews to ascertain the current status across member states. One stakeholder meeting was additionally conducted to prioritize relevant factors by stakeholders. Seven common pillars were identified, and twenty-five measures were defined based on these pillars. Results showed that a multi-faceted approach is necessary for successful NGS implementation and that regional differences may be influenced by healthcare policies, resources, and infrastructure. It is important to consider different correlations when interpreting the results and to use them as a starting point for further discussion.

Keywords: Infrastructure; Molecular diagnostics; Next-generation sequencing; Personalised medicine; Policy; Reimbursement.

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Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests.

Figures

**Fig. 1**
List of factors that need to be taken into account in cancer canters [3].

**Fig. 2**
Molecular diagnostics in oncology [4].

See this image and copyright information in PMC

References

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Tackling the implementation gap for the uptake of NGS and advanced molecular diagnostics into healthcare systems

Affiliations

Tackling the implementation gap for the uptake of NGS and advanced molecular diagnostics into healthcare systems

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

LinkOut - more resources

Full Text Sources

Miscellaneous