Non-invasive prenatal testing (NIPT) continues to expand globally to support maternal-fetal patient care. With a growing number of available assays and more labs offering testing, it is essential to have consistency in reporting and the ability to compare results and validate current or new methods.
The Promise of Liquid Biopsy Application to Cancer Disease Diagnostics and Therapeutic Monitoring – Are we there yet?”
Circulating cell free DNA as a surrogate sample type for effective diagnostics has remained an area of significant interest.
Webinar: Cancer immunotherapy is an exciting new advance for the successful treatment of many forms of metastatic cancer. However, only a minority of patients with terminal cancer have durable response with approved immuno-oncology treatments.
Workshop Video: Listen in as Chief Scientific Officer, Russell Garlick and our esteemed panel from the AMP 2019 workshop as they tackle the technical and regulatory considerations for designing next-generation sequencing controls and standards for optimal quality and performance.
Workshop Video: Three scientific experts present tools and strategies for TMB analysis through the characterization of tumor-normal cell line pairs for TMB standardization using genomic DNA and FFPE DNA,Q2 solutions EA solutions, and blood tumor mutational burden (bTMB) standards
Development of SNP Matched NIPT Reference Materials for Validation, Proficiency Testing and Quality Control
Plasma-based non-invasive prenatal testing (NIPT) by Next Generation Sequencing (NGS) is being adopted into clinical laboratories. However, obtaining sufficient amounts of patient-derived reference materials for proficiency testing, assay validations, and daily QC remains difficult if not impossible to obtain. Using consistent, high quality and patient-derived reference materials can help with all of these tasks.
Consistent Performance of Highly Multiplexed RNA Fusion Reference Materials Across Different NGS Assays in a Multi-Lab Study
Fusion detection is an important part of cancer disease management, and there is an increasing need for highly multiplexed reference materials to cover mutations which may be rare or difficult to obtain.
Measurements of circulating tumor DNA (ctDNA) hold great potential to detect residual disease and monitor therapeutic response and tumor evolution. However, there are many technical challenges including trace levels of circulating cell free DNA, short DNA fragment sizes, low variant allelic fractions, and the need to detect all variant types.
About 10-50% of NSCLCs have one of several activating EGFR driver mutations which have been clinically validated as therapeutic biomarkers for anti-EGFR drugs. Identifying these driver mutations through liquid biopsies is a promising alternative to traditional biopsies; however, the precision of mutation analysis for some of these targets remains a challenge.
Optimizing TMB Use in Cancer Research and Care: The Friends of Cancer Research TMB Harmonization Effort
Harmonization of methods to quantify TMB will facilitate robust biomarker development and optimize clinical utilization and treatment decision-making. Friends aims to better understand the impact of assay variation on clinical outcomes, align standards, and define best practices for TMB assessment.
Friends aims to better understand the impact of assay variation on clinical outcomes, align standards, and define best practices for TMB assessment. Listen as Dr. Mark Stewart discusses the role of the tumor mutational burden (TMB) in cancer research and the need for harmonization throughout the process.
Two-Part Workshop Video: Two scientific experts present how they achieve the assay sensitivities required for clinical applications while preserving specificity and overall assay performance.
Enabling Standardised Testing of Liquid Biopsy Assays Detecting EGFR Mutations Using Bespoke Reference Materials
Frequently, patients with non-small cell lung cancer (NSCLC) have limited (if any) tissue available to perform EGFR mutation testing. This can be overcome by testing plasma samples for the presence of mutations in circulating tumor DNA (ctDNA).
How Can Labs Implement a Best-In-Class, Robust, and Compliant Next-Generation Sequencing QC Program?
Two-Part Workshop Video: Two scientific thought leaders discuss applying up-to-date quality control systems and standardization to NGS oncology assays in order to meet current guidelines and regulatory compliances.
CleanPlex UMI Lung Cancer Panel for Detecting Low-Frequency Variants Using Targeted Amplicon Sequencing Approach & Molecular Barcodes
Watch the video and download this free poster to see how the recovered number of UMIs is one of the keys for accurate detection of rare mutations with fewer false positives.
The need for commutable and comprehensive ctDNA reference materials is evident from the increasing number of liquid biopsy diagnostics and comprehensive panels on the market that are accompanied by reports of discordant results.
MolecularMD performed analytical validation studies for the detection of hotspot mutations and copy number variation using commercially available cfDNA controls, full-length and fragmented cell line DNA dilutions, plasma-derived cfDNA samples and FFPE DNA samples.
Use of Molecular Identifiers and Targeted NGS to Enable Variant Detection Below 1% Allele Frequencies in Circulating Cell-Free DNA
Watch the video to see how Swift BioSciences' analysis accurately and reproducibly identified known variants as low as 0.25%.
Optimization Studies for the Development of Highly Multiplexed Reference Materials in FFPE Format for Solid Tumor Profiling
Sourcing individual FFPE samples (remnant patient specimens or cell line derived) for each of the somatic mutations of interest can be expensive and time-consuming.
Development and Testing of Reference Materials for NGS based Somatic Variant Detection and Fusion Detection in Myeloid Cancers
See how the development of these reference materials aid the development, optimization, and verification of NGS-based myeloid disease testing, providing laboratories greater assurance in their ability to correctly detect these genomic events in myeloid patient samples.
In this roundtable discussion, three industry experts share practical learnings on implementing a best-in-class clinical NGS lab QC management program on time and budget.
NGS QC: Part 1
Welcome to our video series on how to use SeraCare's QC Solutions to get up and running faster and stay up and running longer with your clinical NGS assays. This video series will highlight how you can use SeraCare's QC management solutions to address assay validation, training, troubleshooting, QC review, and QC reporting.
NGS QC: Part 2
Welcome to our video series on how to use SeraCare's QC Solutions. This second video will focus on how to more quickly troubleshoot your NGS assays so you can get back up and running faster and proactively monitor assay performance to stay up and running longer.
NGS QC: Part 3
Welcome to our video series on how to use SeraCare's QC Solutions to get up and running faster and stay up and running longer with your clinical NGS assays. This third video will illustrate how to load, review, and generate QC reports.
NGS QC: Part 4
Welcome to our video series on how to use SeraCare's QC Solutions to get up and running faster and stay up and running longer with your clinical NGS assays. The fourth video in this series will illustrate how we eliminate the need for data entry by utilizing our simple drag and drop process for importing QC data from multiple file types into iQ NGS.
The detection of somatic mutations in circulating cell-free DNA(ccfDNA) from plasma samples using next-generation sequencing (NGS) panels is one of the most exciting developments in oncology diagnostics. However...
A Novel Circulating Tumor DNA Reference Material Compared on Next-Generation Sequencing to Digital PCR Assays
Watch the video and download this free poster to see how SeraCare has developed a size-selection and DNA processing method to mimic the size profile of native ctDNA.
UNC evaluated a test system that preferentially amplifies fragmented DNA to reduce impact of ex vivo release of cellular DNA, and that capitalizes on “unique molecular identifiers” and variable amplicon lengths to improve assay performance.
Multi-Laboratory Assessment of a New Reference Material for Quality Assurance of Circulating Tumor DNA Measurements
The accurate diagnosis and monitoring of cancer, using circulating tumor DNA, is a major challenge, given the low concentration and complexity of the target molecules.
Asuragen’s Associate Director of Bioinformatics explains how SeraCare’s ctDNA allows confident quantification of trace levels of ctDNA in their NGS-based assay.
This video shows how Directed Genomics and New England Biolabs use highly multiplexed reference materials during optimization and validation to fine-tune assay performance.
Circulating Cell Free DNA Isolated and Amplified from the Plasma of Pancreatic Cancer Patients as Reference Material for ctDNA Assays
The validation and evaluation of circulating tumor DNA (ctDNA) assays poses analytical challenges because the amount of circulating cell-free DNA (ccfDNA) that can be obtained
Dr. Bob Daber, founder of Gnosity Consults, and Dr. Russell Garlick, CSO of SeraCare discuss real-world examples that illustrate how highly multiplexed, patient-like biosynthetic reference materials offer substantial time and cost advantages over traditional materials and methods.
Industry expert Dr. Sandi Deans, Consultant Clinical Scientist and Director of UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics presents a case study of how a global external quality assessment (EQA) organization uses expert-designed, patient-like reference materials to ensure the accuracy and consistency of a clinical genomics application.
In this video, Drs. Greg Tsongalis and Russell Garlick will review how to employ modern NGS QC tools to accelerate the development of your clinical genomics assay for less than it costs with traditional materials and methods.
Assessing Sensitivity of NGS RNA Fusion Assays Using a Multiplexed and Well-Characterized Linearity Panel
Many targeted NGS-based panels have been introduced to detect RNA fusions useful for prognosis and therapy selection in cancer.
NGS QC Metrics
Francine Blumental de Abreu, PhD presents how a lab can measurably improve and simplify their validations and daily QC using powerful reference materials and lab QC software to track and report all key QC metrics.
Gregory J. Tsongalis of Dartmouth Hitchcock Medical Center discusses how his lab developed and validated a cancer hotspot assay.
Tony Godfrey of the Boston University School of Medicine will discuss how his lab is developing and validating clinical circulating tumor DNA assays.
Dr. Robert Daber discusses how labs can establish laboratory QC systems to comply with CAP, CLIA, and state regulatory guidelines.