Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Ground Control to Major Tom: Use Controls and Keep Your Assay Running On

Posted by Lorn Davis on Feb 28, 2019 9:55:47 AM

Labs that demonstrate best practice clinical next-generation sequencing (NGS) quality management programs utilize positive run controls, designed for this purpose, to monitor assay analytical performance across each step of the clinical NGS workflow. Common parameters for assessing the analytical performance of a clinical NGS run include sensitivity (true positives), specificity (true negatives),

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Topics: NGS assays, qc management, iQ NGS

The Full Authority Companion Diagnostic

Posted by Yves Konigshofer on Feb 21, 2019 12:30:00 PM

It is very likely that on your last flight the turbofan engines were controlled by full authority digital engine controls – FADECs for short. FADECs have played a significant role in keeping airline ticket prices low (except during holidays) by continually adjusting engine parameters so that the engine operates with maximum fuel efficiency and within operational limits, allowing pilots to focus on other tasks.

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Topics: NGS, FDA, clinical genomics

Customer Data: Use of Seraseq ctDNA Reference Samples to Validate Detection of Low Frequency Variants in a cfDNA-based NGS Lung Cancer Panel

Posted by Omo Clement, Ph.D. on Feb 14, 2019 2:10:00 PM

At the recently-concluded 2018 AMP Meeting, researchers at the New York Presbyterian Hospital (NYPH) and Weill Cornell Medical Center (WCMC) presented a poster1 on the validation of an Oncomine™ cell-free DNA Lung Assay using ctDNA NGS standards developed by SeraCare (Seraseq® ctDNA v2 Reference Materials),2

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Topics: ctDNA, SeraSeq, Amp, cfDNA, Lung Cancer

NTRK Fusion Testing for New Therapies

Detecting & Managing Rare Pediatric & Adult Cancers

Posted by Omo Clement, Ph.D. on Feb 6, 2019 9:15:00 AM

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).

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Topics: Cancer, fusion RNA, NTRK

Keys to Better Liquid Biopsy Assay Sensitivity – AMP Corporate Workshop Video

Posted by Sam Blier on Jan 24, 2019 10:30:00 AM

“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

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Topics: NGS, ctDNA, Amp, NGS assays, liquid biopsy, NGS reference materials

Tips for Better EGFR Mutation Testing

Posted by Catherine Huang on Jan 10, 2019 11:30:00 AM

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.

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Topics: ctDNA, SeraSeq, Ffpe, EGFR

Workshop Video: Two Experts Take on Clinical Genomics QC and Standardization at AMP

Posted by Sam Blier on Dec 18, 2018 4:45:00 PM

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.

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Topics: NGS, Amp, clinical genomics, iQ NGS

Two Must-See Liquid Biopsy Poster Videos From AMP 2018

Posted by Sam Blier on Dec 7, 2018 2:19:00 PM

 

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.

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Topics: ctDNA, SeraSeq, Amp, liquid biopsy, cfDNA

The Trouble with Troubleshooting Clinical NGS

Posted by Peter Duncan on Nov 15, 2018 11:00:00 AM
Figure 1 Frustrated Actor in PocketHose Infomercial

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

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Topics: QC Challenges, QC Management Software, iQ NGS

Building and Implementing Liquid Biopsy Assays with the Industry’s Most Patient-Like Reference Materials

Posted by Omo Clement, Ph.D. on Oct 24, 2018 9:00:00 AM

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.   

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Topics: SeraSeq, liquid biopsy, NGS reference materials, Clinical NGS Assays, reference materials