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. 2024 Jul 13;11(8):ofae395.
doi: 10.1093/ofid/ofae395. eCollection 2024 Aug.

Pathogen-Agnostic Advanced Molecular Diagnostic Testing for Difficult-to-Diagnose Clinical Syndromes-Results of an Emerging Infections Network Survey of Frontline US Infectious Disease Clinicians, May 2023

Preetika S Rao  1 , Diane L Downie  2 , Corinne David-Ferdon  3 , Susan E Beekmann  4 , Scott Santibanez  5 , Philip M Polgreen  4 , Matthew Kuehnert  5 , Sean Courtney  6 , Justin S Lee  7 , Jasmine Chaitram  6 , Reynolds M Salerno  6 , Adi V Gundlapalli  1
Affiliations

Pathogen-Agnostic Advanced Molecular Diagnostic Testing for Difficult-to-Diagnose Clinical Syndromes-Results of an Emerging Infections Network Survey of Frontline US Infectious Disease Clinicians, May 2023

Preetika S Rao et al. Open Forum Infect Dis. .

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 infectious 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 reemerging 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.

Keywords: Advanced molecular diagnostic testing; Emerging infections; Metagenomics; Pathogen agnostic.

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Conflict of interest statement

Potential conflicts of interest. The authors: No reported conflicts of interest.

Figures

Figure 1.
Figure 1.
Payors of advanced molecular laboratory testing and associated costs, Emerging Infections Network, North America, May 2023.
See this image and copyright information in PMC

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References

    1. Cao B, Liu X, Yu X, Chen M, Feng L, Wang L. A new oligonucleotide microarray for detection of pathogenic and non-pathogenic Legionella spp. PLoS One 2014; 9:e113863. - PMC - PubMed
    1. Fakhar M, Nakhaei M, Sharifpour A, et al. Morphological and molecular identification of emerged Lophomonas blattarum infection in Mazandaran province, northern Iran: first registry-based study. Acta Parasitologica 2021; 66:1510–6. - PubMed
    1. Fredricks DN. Molecular mycology and emerging fungal pathogens. Diagnos Fungal Infect 2007; 375–94.
    1. Xiao D, Zhang C, Zhang H, Li X, Jiang X, Zhang J. A novel approach for differentiating pathogenic and non-pathogenic Leptospira based on molecular fingerprinting. J Proteomics 2015; 119:1–9. - PubMed
    1. Hill JA, Park SY, Gajurel K, Taplitz R. A systematic literature review to identify diagnostic gaps in managing immunocompromised patients with cancer and suspected infection. Open Forum Infect Dis 2024; 11:ofad616. - PMC - PubMed