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

Denis Horgan, Marc Van den Bulcke, Umberto Malapelle, Giancarlo Troncone, Nicola Normanno, Ettore Capoluongo, Arsela Prelaj, Carmelo Rizzari, Dario Trapani, Jaya Singh, Marta Kozaric, John Longshore, Manuel Ottaviano, Stefania Boccia, Gabriella Pravettoni, Ivana Cattaneo, Núria Malats, Reinhard Buettner, Karim Lekadir, Francesco De Lorenzo, Paul Hofman, Ruggero De Maria

2023Heliyon24 citationsDOIOpen Access PDF

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.

Topics & Concepts

AllianceStakeholderHealth carePrecision medicineHealthcare systemMolecular diagnosticsMedicineData scienceComputer sciencePolitical scienceBioinformaticsPathologyBiologyPublic relationsLawCancer Genomics and DiagnosticsBRCA gene mutations in cancerLung Cancer Treatments and Mutations
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