Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: Recommendations for reporting results.
full-genome sequencing
incidental findings
metagenomics
pathogens
Journal
Wellcome open research
ISSN: 2398-502X
Titre abrégé: Wellcome Open Res
Pays: England
ID NLM: 101696457
Informations de publication
Date de publication:
2019
2019
Historique:
accepted:
07
10
2019
entrez:
15
2
2020
pubmed:
15
2
2020
medline:
15
2
2020
Statut:
epublish
Résumé
The identification of microbiological infection is usually a diagnostic investigation, a complex process that is firstly initiated by clinical suspicion. With the emergence of high-throughput sequencing (HTS) technologies, metagenomic analysis has unveiled the power to identify microbial DNA/RNA from a diverse range of clinical samples (1). Metagenomic analysis of whole human genomes at the clinical/research interface bypasses the steps of clinical scrutiny and targeted testing and has the potential to generate unexpected findings relating to infectious and sometimes transmissible disease. There is no doubt that microbial findings that may have a significant impact on a patient's treatment and their close contacts should be reported to those with clinical responsibility for the sample-donating patient. There are no clear recommendations on how such findings that are incidental, or outside the original investigation, should be handled. Here we aim to provide an informed protocol for the management of incidental microbial findings as part of the 100,000 Genomes Project which may have broader application in this emerging field. As with any other clinical information, we aim to prioritise the reporting of data that are most likely to be of benefit to the patient and their close contacts. We also set out to minimize risks, costs and potential anxiety associated with the reporting of results that are unlikely to be of clinical significance. Our recommendations aim to support the practice of microbial metagenomics by providing a simplified pathway that can be applied to reporting the identification of potential pathogens from metagenomic datasets. Given that the ambition for UK sequenced human genomes over the next 5 years has been set to reach 5 million and the field of metagenomics is rapidly evolving, the guidance will be regularly reviewed and will likely adapt over time as experience develops.
Identifiants
pubmed: 32055707
doi: 10.12688/wellcomeopenres.15499.1
pmc: PMC6993825
doi:
Types de publication
Journal Article
Langues
eng
Pagination
155Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
Copyright: © 2019 Magiorkinis G et al.
Déclaration de conflit d'intérêts
No competing interests were disclosed.
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