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Magiorkinis, Gkikas, Matthews, Philippa C., Wallace, Susan E., Jeffery, Katie, Dunbar, Kevin, Tedder, Richard, Mbisa, Jean L., Hannigan, Bernadette, Vayena, Effy, Simmonds, Peter, Brewer, Daniel S. 
ORCID: https://orcid.org/0000-0003-4753-9794, Gihawi, Abraham ORCID: https://orcid.org/0000-0002-3676-5561, Rallapalli, Ghanasyam, Lahnstein, Lea, Fowler, Tom, Patch, Christine, Maleady-Crowe, Fiona, Lucassen, Anneke and Cooper, Colin ORCID: https://orcid.org/0000-0003-2013-8042
(2019)
Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: Recommendations for reporting results.
Wellcome Open Research, 4.
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Abstract
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 Projectwhich 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.
| Item Type: | Article |
|---|---|
| Additional Information: | Citation: Magiorkinis G, Matthews PC, Wallace SE et al. Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: Recommendations for reporting results [version 1; peer review: awaiting peer review]. Wellcome Open Res 2019, 4:155 |
| Uncontrolled Keywords: | sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being |
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Groups > Cancer Studies Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 15 Oct 2019 10:30 |
| Last Modified: | 20 Jun 2024 00:31 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/72590 |
| DOI: | 10.12688/wellcomeopenres.15499.1 |
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