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Pathogen-agnostic advanced molecular diagnostic testing for difficult-to-diagnose patients – results of an Emerging Infections Network survey of frontline U.S. Infectious Disease Clinicians, May 2023
Journal article   Open access   Peer reviewed

Pathogen-agnostic advanced molecular diagnostic testing for difficult-to-diagnose patients – results of an Emerging Infections Network survey of frontline U.S. Infectious Disease Clinicians, May 2023

Preetika Rao, Diane L Downie, Corinne David-Ferdon, Susan E Beekmann, Scott Santibanez, Philip M Polgreen, Matthew Kuehnert, Sean Courtney, Justin Lee, Jasmine Chaitram, …
Open forum infectious diseases, Vol.11(8), ofae395
07/30/2024
DOI: 10.1093/ofid/ofae395
PMCID: PMC11304606
PMID: 39113826
url
https://doi.org/10.1093/ofid/ofae395View
Published (Version of record) Open Access

Abstract

Abstract During routine clinical practice, infectious disease physicians encounter patients with difficult-to-diagnose clinical syndromes and may order advanced molecular testing to detect pathogens. These tests may identify potential causes for illness and allow clinicians to adapt treatments or stop unnecessary antimicrobials. Cases of pathogen-agnostic disease testing also provide an important window into known, emerging and re-emerging pathogens and may be leveraged as part of national sentinel surveillance. A survey of Emerging Infections Network members, a group of infectious disease providers in North America, was conducted in May 2023. The objective of the survey was to gain insight into how and when infectious disease physicians use advanced molecular testing for patients with difficult-to-diagnose infectious diseases, as well as to explore the usefulness of advanced molecular testing and barriers to use. Overall, 643 providers answered at least some of the survey questions; 478 (74%) of those who completed the survey had ordered advanced molecular testing in the last two years and formed the basis for this study. Respondents indicated that they most often ordered broad-range 16s rRNA gene sequencing, followed by metagenomic next-generation sequencing and whole genome sequencing; and commented that in clinical practice some but not all tests were useful. Many physicians also noted several barriers to use, including a lack of national guidelines and cost, while others commented that whole genome sequencing had potential for use in outbreak surveillance. Improving frontline physician access, availability, affordability and developing clear national guidelines for interpretation and use of advanced molecular testing could potentially support clinical practice and public health surveillance.
Advanced molecular diagnostic testing Emerging infections Metagenomics Pathogen agnostic

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