ASCP 2019: Staying Current with Cutting-edge Molecular Technology and Clinical Applications

By Erin Graf, PhD, D(ABMM), and Susan J. Hsiao, MD, PhD

Technologic advances in sequencing have revolutionized molecular pathology. This field continues to rapidly evolve with the use of next-generation sequencing (NGS) for expanded clinical applications. Other novel molecular techniques are also emerging for diagnostic applications. As a result of this accelerated molecular progression, it can be challenging for pathologists and laboratory professionals to stay current with all the advances in the field.  

To address this knowledge gap, at the 2019 ASCP Annual Meeting in Phoenix, AZ, we will present a session entitled, “Molecular Diagnostics Primer—Advanced Topics.” This will take place at 8 a.m. on Wednesday, September 11^th, and is a joint presentation with the Association for Molecular Pathology. The 1.5-hour session will use a case-based format to introduce specific technologies and clinical applications such as NGS, liquid biopsy, microarray and digital PCR, among others, in molecular pathology, genomics and infectious disease laboratories.

One of the hottest topics in clinical microbiology is the use of metagenomic NGS (mNGS), directly from a clinical specimen, for the diagnosis of infections that are missed by conventional microbiologic testing. Only a handful of reference laboratories currently offer mNGS testing and each has specialized in one sample type and clinical application. However, it’s just a matter of time until more widespread adoption of mNGS occurs. As a result, pathologists and laboratory professionals should understand the appropriate clinical scenarios for which mNGS testing could be beneficial. Of equal importance, this audience should also understand the limitations of mNGS testing, as it is not necessarily more sensitive than conventional testing.

We will also discuss the use of advanced molecular technologies used in the diagnosis of genetic disorders, and in the evaluation of important tumor biomarkers such as tumor mutational burden, mutational signatures, and targetable fusion genes. 

The fast pace of the evolution of this field drives the need for continued education for pathologists and laboratory professionals in order to keep up with molecular advances and applications in the areas described above. This session will be interactive, encouraging audience participation, to assist with understanding of this highly-complex material. See you there!

Learn more about education sessions at ASCP 2019 Annual Meeting here. 

Susan J. Hsiao, MD, PhD, is an Assistant Professor of Pathology and Cell Biology, and Director of Bioinformatics in the Laboratory of Personalized Genomic Medicine, at Columbia University Irving Medical Center. Erin H. Graf, PhD, D(ABMM), is the Director of the Infectious Disease Diagnostics Laboratory at the Children’s Hospital of Philadelphia and an Assistant Professor of Pathology and Laboratory Medicine at the University of Pennsylvania. Dr. Graf’s research interests include sequence-based diagnostics in clinical microbiology, including the applications of next generation sequencing and metagenomics, as well as emerging technologies for rapid diagnostics.