CASE REPORT


Utility of Whole-Genome Next-Generation Sequencing of Plasma in Identifying Opportunistic Infections in HIV/AIDS



Yang Zhou1, Vagish Hemmige2, Sudeb C. Dalai3, 6, David K. Hong3, Kenneth Muldrew4, Mayar Al Mohajer5, *
1 Department of Internal Medicine, Baylor College of Medicine, Houston, TX, USA
2 Department of Infectious Disease, Montefiore Medical Center, Bronx, NY, USA
3 Department of Medical Affairs, Karius, Inc., Redwood City, CA, USA
4 Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA
5 Infection Prevention and Antimicrobial Stewardship, Baylor St. Luke's Medical Center, Houston, TX, USA
6 Division of Infectious Diseases, Stanford University Medical Center, Stanford, CA, USA


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Creative Commons License
© 2019 Zhou et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Baylor College of Medicine, Infection Prevention and Antimicrobial Stewardship, Baylor St. Luke's Medical Center, Houston, TX, United States; Tel: (832) 355-7848; E-mail: Mayar.AlMohajer@bcm.edu


Abstract

Background:

AIDS-associated Opportunistic Infections (OIs) have significant morbidity and mortality and can be diagnostically challenging, requiring invasive procedures as well as a combination of culture and targeted molecular approaches.

Objective:

We aimed to demonstrate the clinical utility of Next-generation Sequencing (NGS) in pathogen identification; NGS is a maturing technology enabling the detection of miniscule amounts of cell-free microbial DNA from the bloodstream.

Methods:

We utilized a novel Next-generation Sequencing (NGS) test on plasma samples to diagnose a series of HIV-associated OIs that were diagnostically confirmed through conventional microbial testing.

Results:

In all cases, NGS test results were available sooner than conventional testing. This is the first case series demonstrating the utility of whole-genome NGS testing to identify OIs from plasma in HIV/AIDS patients.

Conclusion:

NGS approaches present a clinically-actionable, comprehensive means of diagnosing OIs and other systemic infections while avoiding the labor, expense, and delays of multiple tests and invasive procedures.

Keywords: Human immunodeficiency virus, Acquired Immune Deficiency Syndrome, Opportunistic infections, Next-generation sequencing, Cell-free DNA, Toxoplasma gondii, Toxoplasmosis, Mycobacterium avium complex, Mycobacterium tuberculosis, Cryptosporidium.