By Clinical Informatics News Staff 

August 13, 2014 | Next week, from August 18-21, the 2014 Next Generation Diagnostics Summit will convene in Washington, DC. The annual summit, now in its sixth year, provides a setting where industry leaders, regulators, hospital directors, medical ethicists and others can discuss the rapidly evolving field of molecular diagnostics and the clinical use of genetic testing.

This year’s event comes in the immediate wake of a major FDA announcement, that the agency plans to begin regulating laboratory developed tests in much the same way it does other in vitro diagnostics. (Clinical Informatics News recently ran an explainer on the issues surrounding LDT regulation and the FDA’s proposed timeline.) That proposal will be a major focus of conversation next week, including in a dedicated session with guest speaker Jennifer Dickey from the FDA’s Office of In Vitro Diagnostics. Details of how the agency plans to implement regulations, and which LDTs will be classified in higher risk groups requiring earlier action, remain under consideration.

The summit will also have an increased focus on next generation sequencing this year, as the past twelve months have marked the first appearance of an FDA-approved next generation sequencer for clinical settings. (See “MiSeqDx Foreshadows Expanded Universe of Clinical Sequencing.”) NGS will be a central feature of conference tracks including Companion Diagnostics, Predictive Cancer Biomarkers, and Molecular Diagnostics for Infectious Disease, as well as a newly introduced track on NGS-Based Assays in the Clinical Setting. Other tracks appearing for the first time this year include Inherited Disease Diagnostics, Cell-Free DNA, and Single-Cell Sequencing.

Here is a sampling of talks we’re looking forward to at this year’s conference.

— The Editors

In Tuesday’s opening keynote, Jeff Boyd, chief of molecular pathology at Fox Chase Cancer Center and executive director of the Cancer Genome Institute, will recount how his program has adopted genomic technology in the diagnosis and treatment of cancer. Tuesday, August 19, 8:40 am 

In a simultaneous session, Pawan Jain, a senior regulator at the FDA, and an expert panel will discuss how point-of-care diagnostic tests can be more quickly and effectively deployed in low-resource areas where residents have limited access to clinical services. Tuesday, August 19, 8:40 am 

Jennifer Dickey, of the Office of In Vitro Diagnostics at the FDA, will join the summit for two presentations. First, she will address the issue of NGS-based companion diagnostics, and suggest how such personalized medicine applications might win FDA approval. Then, she will speak more broadly about the agency’s approach to new NGS tests. Dickey will also participate in an open Q&A with the audience. Wednesday, August 20, 9:30 am and 11:10 am 

In a joint panel, Elaine Lyon, Andrea Ferreira-Gonzalez, and Madhuri Hegde, all directors of university-affiliated genetics laboratories, will share their experiences offering clinical NGS testing, and their advice for securing reimbursement. Wednesday, August 20, 11:55 am 

A Wednesday keynote featuring James Hicks of Cold Spring Harbor Laboratory, Sunney Xie of Harvard, and Maximilian Diehn of Stanford will present new technologies and methods for single-cell genomics, including applications in in vitro fertilization and circulating tumor cells. Wednesday, August 20, 1:50 pm 

Charles Chiu from UC San Francisco will describe how NGS can be used to detect rare or novel pathogens from clinical samples, including a case study. Wednesday, August 20, 2:30 pm 

Justin Zook and Mark Salit of the National Institute of Standards and Technology will present on the Genome in a Bottle Consortium’s work producing highly curated human benchmark genomes for the validation of human genotyping and variant discovery. Wednesday, August 20, 5:45 pm 

Živana Težak from the FDA’s Center for Devices and Radiological Health will review the approval of the MiSeqDx sequencer and four related tests, and consider the performance evaluation process for other such instruments. Thursday, August 21, 2:05 pm