CLN Daily 2026

To metagenomics and beyond! Advanced sequencing to aid infectious disease diagnosis

Katherine A. Turner, PhD, DABCC, FADLM

You might think metagenomics is straight out of science fiction — or perhaps you’re already familiar with this very real field of microbial genomic sequencing. Either way, Thursday’s session “Impact and stewardship of advanced molecular microbiology testing: Making metagenomics matter in infectious disease diagnostics,” should be on your radar at ADLM 2026.

Metagenomic sequencing, which is done on genetic material directly recovered from biological samples rather than organisms grown from culture, has become a routine part of clinical care for diagnosing infectious disease. Yet despite its growing adoption, there is little consensus regarding its optimal use.

As session moderator Nicole Pecora, MD, PhD, D(ABMM) of Brigham and Women’s Hospital/Harvard Medical School explained, there is a “gap between enthusiasm for the technology and clarity about how to use it.” Whether you are a practicing clinical microbiologist, an infectious disease specialist, or a lab professional responsible for overseeing costly molecular send-out testing, this session will provide practical insights that you can immediately apply.

The rapid growth of advanced molecular testing has led to a corresponding increase in requests for metagenomic send-out assays. However, determining when these tests are likely to provide clinically actionable value requires careful consideration.

“The goal of this session is to help laboratories and clinicians move from enthusiasm-driven ordering to a structured stewardship model that preserves access for high-yield cases while reducing ambiguous, low-value, and potentially harmful testing,” said Pecora.

Metagenomic testing offers distinct advantages over traditional diagnostic approaches, particularly for slow-growing or difficult-to-culture organisms. However, its value depends heavily on numerous factors, including pretest probability, the clinical syndrome under investigation, and the patient’s overall clinical context. “It is not a broad ‘rule-out infection’ test,” Pecora emphasized.

Attendees will learn practical strategies for overcoming many of the challenges associated with metagenomic testing in clinical practice. Topics will include appropriate specimen selection, implementation of testing stewardship programs, and the development of institutional workflows that ensure testing is used effectively.

The session will feature case-based examples demonstrating how metagenomic results can be either highly informative or potentially misleading, depending on the clinical context. In addition, attendees will be introduced to a practical stewardship checklist developed at Tufts Medical Center that can assist laboratories in making evidence-based decisions.

One of the speakers, Zoe Weiss, MD, of Tufts Medical Center, will discuss the clinical utility of metagenomic testing, with particular emphasis on selecting the best specimen for each scenario. She will also highlight the importance of laboratory stewardship and describe how institutions can build effective workflows that integrate infectious disease and microbiology expertise into the review process. 

Next, Pecora will explore the application of metagenomics across a broader range of clinical situations, including pulmonary and orthopedic infections. “The goal is to use the right sequencing test, on the right specimen, for the right clinical question,” she said.

Join us on a journey beyond traditional microbiology testing and discover how metagenomic sequencing can be used thoughtfully and effectively to improve infectious-disease diagnosis.

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