title: Tissue-based next generation sequencing: application in a universal healthcare system.
abstract: In the context of solid tumours, the evolution of cancer therapies to more targeted and nuanced approaches has led to the impetus for personalised medicine. The targets for these therapies are largely based on the driving genetic mutations of the tumours. To track these multiple driving mutations the use of next generation sequencing (NGS) coupled with a morphomolecular approach to tumours, has the potential to deliver on the promises of personalised medicine. A review of NGS and its application in a universal healthcare (UHC) setting is undertaken as the technology has a wide appeal and utility in diagnostic, clinical trial and research paradigms. Furthermore, we suggest that these can be accommodated with a unified integromic approach. Challenges remain in bringing NGS to routine clinical use and these include validation, handling of the large amounts of information flow and production of a clinically useful report. These challenges are particularly acute in the setting of UHC where tests are not reimbursed and there are finite resources available. It is our opinion that the challenges faced in applying NGS in a UHC setting are surmountable and we outline our approach for its routine application in diagnostic, clinical trial and research paradigms.
authors.affiliation: Northern Ireland Molecular Pathology Laboratory, Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.
authors.forename: Seán O
authors.initials: SO
authors.lastname: Hynes
authors.affiliation: Department of Pathology, National University Health System, 5 Lower Kent Ridge Road, Singapore, 119074 Singapore.|Diagnostic Molecular Oncology Centre, Department of Pathology, National University Health System, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: Brendan
authors.initials: B
authors.lastname: Pang
authors.affiliation: Northern Ireland Molecular Pathology Laboratory, Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.|Tissue Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.
authors.forename: Jacqueline A
authors.initials: JA
authors.lastname: James
authors.affiliation: Northern Ireland Molecular Pathology Laboratory, Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.|Tissue Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.
authors.forename: Perry
authors.initials: P
authors.lastname: Maxwell
authors.affiliation: Northern Ireland Molecular Pathology Laboratory, Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.|Tissue Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.
authors.forename: Manuel
authors.initials: M
authors.lastname: Salto-Tellez
mesh_terms: D002986:Clinical Trials as Topic; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000379:methods*; D006801:Humans; D007348:Insurance, Health; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis*; D057285:Precision Medicine; D017422:Sequence Analysis, DNA / Q000191:economics / Q000379:methods*