“So as everyone here is aware, I’m sure, detection of circulating tumor DNA is challenging. There’s very little of it, to start with.” Hardly a revolutionary statement by Tony Godfrey, PhD, (Associate Chair, Surgical Research and Associate Professor of Surgery, Boston University School of Medicine) but an important acknowledgement from a leading expert of the difficulty faced by laboratorians
If you’ve attended the AMP Annual Meeting over the years or seen any of the headlines it generates, you know how next-generation sequencing-based assays are becoming indispensable diagnostic, prognostic, and predictive tools for a growing number of disease states. But just as important as the newest biomarker or latest chemistry – but seemingly less headline-worthy – are NGS quality control and standardization.
Of the many fantastic posters presented at AMP’s Annual Meeting in San Antonio, two concerning NGS-based liquid biopsy assays stood out. Both presenters described how their organizations are working to reliably detect pathogenic variants at extremely low allele frequencies – efforts critical to the clinical adoption of NGS-based liquid biopsy assays.
Laboratory-developed tests (LDTs) have proliferated in the absence of clear guidelines and regulations. So how can laboratorians, physicians, and patients be assured of the quality of the diagnostic result? A panel of clinical genomics experts (Girish Putcha, MD, PhD, Director of Laboratory Science, Palmetto GBA; Roger Klein, MD, Principal, JD Consulting; Elaine Lyon, PhD, Medical Director, Molecular Genetics and Genomics, ARUP Laboratories; and Russell Garlick, PhD, CSO, SeraCare) delved into this topic during the audience Q&A session of a recent webinar hosted by GenomeWeb (you can download a full report on the entire series here).
“Is there a limit on the type of mutations we would need to validate given that the cost per validation is high?”
This question was recently posted to a panel of clinical genomics experts that we convened for a webinar hosted by GenomeWeb (you can download a full report on the entire series here). Panelists Girish Putcha, MD, PhD, Director of Laboratory Science, Palmetto GBA; Roger Klein, MD, Principal, JD Consulting; and Elaine Lyon, PhD, Medical Director, Molecular Genetics and Genomics, ARUP Laboratories, weighed in with thoughtful responses to a query that’s on the minds of many clinical laboratorians.
Session Summary from Next Generation Dx Summit 2017
At the 2017 Next Generation Dx Summit in Washington, DC, our CSO, Russell Garlick, PhD, presented a workshop on accelerating liquid biopsy assay development. He has worked closely with a variety of groups in the liquid biopsy space that are developing and validating circulating tumor DNA (ctDNA) assays. He highlighted some common challenges facing the field, and explained how SeraCare has been using these collaborations to develop QC tools specifically for ensuring the robustness of these cutting-edge tests.
Topics: ctDNA, liquid biopsy, assay development, circulating tumor DNA reference Materials, circulating cell-free DNA, biosynthetic reference materials, assay performance, 2017 Next Generation Dx Summit