The Association for Molecular Pathology (AMP), the premier global, nonprofit organization serving molecular laboratory professionals, announced that The Journal of Molecular Diagnostics has published a Special Article titled, "Next-Generation Sequencing for Infectious Disease Diagnosis and Management: A Report of the Association for Molecular Pathology." Clinical use of next generation sequencing (NGS) was implemented early in cancers and inherited diseases; now, its technology and applications are being applied to infectious diseases.

AMP's paper offers an up-to-date review of NGS applications such as: genotypic resistance testing, direct detection of unknown disease-associated pathogens in clinical specimens, characterization of disease-related changes in the microbial population diversity of the human host, and strain typing for epidemiology and infection control. It also addresses the challenges and opportunities for NGS in infectious disease testing.

"NGS holds enormous promise for clinical infectious diseases testing," said Dr. Benjamin Pinsky, the manuscript's corresponding author. "Though significant technical, bioinformatics, and regulatory challenges remain to be overcome before NGS is widely adopted for routine testing in clinical microbiology, a number of academic and reference laboratories are already using this technology in the clinical setting, providing NGS-based tests for HIV-1 drug resistance, as well as the diagnosis of mixed bacterial infections," Dr. Pinsky added. "This paper highlights not only these existing clinical NGS tests, but also future applications for NGS in infectious diseases, such as microbiome characterization and culture-independent pathogen identification and susceptibility testing."

"NGS permits identification of novel organisms that may remain unidentified following clinical testing using current technologies," said Dr. Michael Lewinski, Chair of AMP's Infectious Diseases Subdivision. "NGS also has an important role in identifying new and emerging organisms that could pose a challenge to mounting an effective treatment response," Dr. Lewinski added.

"There is always a pressing demand for labs to improve turnaround time and productivity," said Dr. Marina Nikiforova, Chair of the AMP Clinical Practice Committee. "NGS has the ability to process large numbers of samples concurrently in a single assay to reduce the time it takes for diagnosis and, with additional improvements in NGS technology, it may become a routine test in diagnostics of infectious diseases, providing help with better disease management," said Dr. Nikiforova.

The paper is a product of the AMP Next Generation Sequencing in Infectious Diseases Work Group, a joint project of the AMP Infectious Diseases Subdivision Leadership and Clinical Practice Committees.

Next-Generation Sequencing for Infectious Disease Diagnosis and Management, Martina I. Lefterova, Carlos J. Suarez, Niaz Banaei, Benjamin A. Pinsky, The Journal of Molecular Diagnostics, doi: 10.1016/j.jmoldx.2015.07.004, published online 30 September 2015.