Metagenomics for clinical diagnostics: technologies and informatics

TL;DR

This paper reviews metagenomics technologies and informatics approaches, highlighting their potential to improve clinical diagnostics and disease surveillance, while discussing current limitations and future challenges for clinical validation.

Contribution

It provides a comprehensive overview of metagenomics methods, addressing computational challenges and limitations relevant to clinical applications.

Findings

Metagenomics tools are emerging for clinical diagnostics and pathogen surveillance.

Current limitations hinder clinical validation of metagenomics methods.

Overcoming hurdles will enable targeted treatments and early disease detection.

Abstract

The human-associated microbiome is closely tied to human health and is of substantial clinical interest. Metagenomics-based tools are emerging for clinical diagnostics, tracking the spread of diseases, and surveillance of potential pathogens. In some cases, these tools are overcoming limitations of traditional clinical approaches. Metagenomics has limitations barring the tools from clinical validation. Once these hurdles are overcome, clinical metagenomics will inform doctors of the best, targeted treatment for their patients and provide early detection of disease. Here we present an overview of metagenomics methods with a discussion of computational challenges and limitations.