Evidence map›Paper›PMID 32055707›Full record

ArticleWellcome open research2019

Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: Recommendations for reporting results.

Gkikas Magiorkinis, Philippa C Matthews, Susan E Wallace, Katie Jeffery, Kevin Dunbar, Richard Tedder, Jean L Mbisa, Bernadette Hannigan, Effy Vayena, Peter Simmonds and 9 more

Open access · goldAbstract read
In one paragraph

Article in Wellcome open research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.5field-weighted citation impact, top 35% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Clinical metagenomics: ethical issues.Journal of medical microbiology · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 11 institutions in 3 countries.

Gkikas MagiorkinisHygiene, Epidemiology and Medical Statistics, Medical School, National and Kapodistrian University of Athens, Athens, 11527, Greece.ORCID https://orcid.org/0000-0002-0141-4753
Philippa C MatthewsUniversity of Oxford, Oxford, UK.
Susan E WallaceUniversity of Leicester, Leicester, UK.
Katie JefferyUniversity of Oxford, Oxford, UK.
Kevin DunbarPublic Health England, London, UK.
Richard TedderImperial College London, London, UK.
Jean L MbisaPublic Health England, London, UK.ORCID https://orcid.org/0000-0002-0348-9679
Bernadette HanniganPublic Health England, London, UK.ORCID https://orcid.org/0000-0001-9314-6049
Effy VayenaSwiss Federal Institute of Technology (ETH), Zurich, Switzerland.
Peter SimmondsUniversity of Oxford, Oxford, UK.ORCID https://orcid.org/0000-0002-7964-4700
Daniel S BrewerUniversity of East Anglia, Norwich, UK.ORCID https://orcid.org/0000-0003-4753-9794
Abraham GihawiUniversity of East Anglia, Norwich, UK.ORCID https://orcid.org/0000-0002-3676-5561
Ghanasyam RallapalliUniversity of East Anglia, Norwich, UK.
Lea LahnsteinGenomics England, London, UK.
Tom FowlerGenomics England, London, UK.
Christine PatchGenomics England, London, UK.
Fiona Maleady-CroweGenomics England, London, UK.
Anneke LucassenFaculty of Medicine, University of Southampton, Southampton, UK.
Colin CooperUniversity of East Anglia, Norwich, UK.
Genomics England · GBUniversity of East Anglia · GBPublic Health England · GBUniversity of Oxford · GBETH Zurich · CHImperial College London · GBJohn Radcliffe Hospital · GBNational and Kapodistrian University of Athens · GRUniversity of Cambridge · GBUniversity of Leicester · GBUniversity of Southampton · GB

Funding

Wellcome Trust
6 · The paper itself

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 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.

Indexed as

full-genome sequencingincidental findingsmetagenomicspathogens

Identifiers

PMID32055707
PMCPMC6993825
OpenAlexW2981255375

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.