Neurotrophic tyrosine receptor kinases (NTRK) can become abnormally fused to other genes resulting in growth signals that can lead to cancer in many organs of the human body. TRK gene fusion-based cancers are rare but present in pediatric and adult cancers such as lung, thyroid, colon, etc. (see, e.g., Figure 1).
Detecting & Managing Rare Pediatric & Adult Cancers
“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
Tips for Better EGFR Mutation Testing
Molecular testing of genomic alterations in the EGFR gene is critical to personalized treatment decisions for patients with advanced non-small cell lung cancer (NSCLC). However, the testing landscape is complex. Some mutations confer sensitivity, and others confer resistance to anti-EGFR targeted therapies.
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.
Have you ever seen those late night infomercials? One of the things I love whenever I have watched these is the over-the-top acting to depict whatever frustration the target audience must be feeling if they can’t coil up their garden hose or manage their closet space.
As frustrated as these actors are, I can’t help but imagine what an actor’s depiction of the level of frustration that a clinical genomics lab director might be feeling when things don’t go according to plan while carrying out an NGS assay.
Figure 1 Frustrated Actor in PocketHose Infomercial
SeraCare’s clinical genomics technologies are developed to address challenges faced across the spectrum of NGS assays. From early development of assays – either IVD assay manufacturers or clinical labs building their own LDTs - there is a scarcity of characterized, complex, difficult variants to ensure the assay can robustly detect all the critical genomic variants in a patient sample. Using our highly characterized, reproducible, and GMP-grade NGS standards, laboratories have a wide range of analytical and clinical validation tools to deeply characterize assay performance such as LOD, linearity, specificity, sensitivity, and reproducibility.
Liquid biopsy requires better standardization to realize all the new possibilities for studying metastasis, heterogenicity, treatment efficacy, and disease recurrence. Furthermore, it is critical for clinicians to have confidence in liquid biopsy data to diagnose and treat patients. This is only achievable when consistent and high-quality data is generated at research and all clinical centers. The Liquid Biopsies course at EMBL Advanced Training Centre provides a unique practical training in best practices and pitfalls on the complete liquid biopsy workflow, from sample preparation to data analysis. The course is targeted for clinical laboratory and research scientists interested in learning all aspects of liquid biopsy testing.
A Panel of Experts Discusses Best Practices for Clinical NGS Quality Management in the Rapidly Evolving Field of Clinical Genomics
There is that old adage that says the only thing that is constant is change. This is one of those universal truths we have all come to accept. Heck, even Dunkin' Donuts, widely credited as being the inventor of the word “Donut,” is dropping the word from their brand name. Blasphemy! But that is for another blog...
As seen in the original “The Matrix,” Morpheus offers Neo two pills - a blue one and a red one. Take the blue pill and you continue right where you left off. But take the red pill and suddenly your outlook on things will change and new possibilities emerge.