SeraCare Life Sciences, part of the LGC Clinical Diagnostics Business Unit and a manufacturer and leading partner to global in vitro diagnostics manufacturers and clinical laboratories, announced the commercial release of the first ever genomic DNA (gDNA) and formalin-fixed paraffin-embedded (FFPE) reference materials for tumor mutational burden (TMB) measurement by next-generation sequencing (NGS) assays.
TMB is a promising pan-cancer biomarker for assessing immuno-oncology (I-O) drug response. However, TMB measurement is challenging as different targeted NGS panels interrogate different regions and percentages of the genome, as well as use different criteria to score relevant somatic mutations. Presently, there is poor correlation among targeted NGS assays that measure TMB at mutation levels that may be relevant for accurately selecting and stratifying cancer patients for I-O therapies. SeraCare collaborated with experts within the Friends of Cancer Research (Friends) and International Quality Network for Pathology (IQN Path) in the development and evaluation of a range of gDNA and FFPE-based TMB reference materials across different targeted NGS panels, sequencing platforms, and bioinformatics analysis pipelines.
SeraCare was selected to provide FFPE TMB reference materials as part of IQN-Path's TMB EQA Pilot Program, and to 16 participating laboratories in the Phase II project of Friends TMB Harmonization Working Group. Data generated from these reference materials were presented by Friends at the 2019 American Society of Clinical Oncology Meeting, and by IQN Path at the 2019 European Congress of Pathology. The results demonstrate the utility of these TMB reference materials in harmonizing and standardizing measurements of TMB by different NGS assays.
"Advancing the analytical validation of novel biomarkers through the design and development of fit-for-purpose reference materials is sometimes overlooked as a critical need in our field, but this has not been the case for TMB," said Russell Garlick, PhD, Chief Scientific Officer for SeraCare. "We partnered with an outstanding panel of scientific experts within our TMB Collaborative Working Group, and this partnership led to the development and rigorous assessment of the first commercial TMB reference materials to harmonize TMB measurements as well as establish clinically actionable results that will enable better patient stratification and treatment outcomes from life-saving I-O therapy."
According to Feras Hantash, PhD, Sema4 Genomics' VP of Molecular Oncology, "TMB reference standards are very helpful in establishing accurate TMB measurements on targeted NGS panels and harmonizing with WES measurements. These materials will assist clinical testing labs in optimizing their NGS panel and bioinformatics pipeline to better support clinical I-O trial projects."
The Seraseq TMB reference materials have been used in the analytical validation of a targeted NGS panel at the Medical College of Georgia, and according to Ravindra Kolhe, MD, PhD, Vice Chairman of Pathology & Chief, Section of Molecular & Genetic Pathology, Medical College of Georgia at Augusta University, "These TMB reference standards are important in optimizing and standardizing TMB measurements by NGS panels, and the ability to compare our results not only to whole exome sequencing but also to other large panels is important for assay validation and QC in a CLIA lab setting."
In addition to the Seraseq TMB gDNA and FFPE reference materials available now, SeraCare can create custom tissue and blood-based TMB reference materials through their VariantFlex custom reference material development platform.
Learn more about the Seraseq TMB reference materials at SeraCare's Corporate Workshop being presented at the AMP 2019 Annual Meeting and Expo, titled “New Tools and Strategies for High-Quality TMB Analysis by NGS” on Wednesday, November 6th in Baltimore, Maryland.