Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Choose your Article Focus | NGS | Molecular & Serology

Diagnostic Testing Schemes for NTRK Cancers: All Roads Lead to NGS

Catagory: NGS, SeraSeq, NTRK, RNA fusion

Posted by Russell Garlick on Feb 12, 2020 12:13:31 PM
New treatment options for cancer patients with neurotrophic tyrosine kinase (NTRK) rearrangements are a tremendous success, demonstrating first-hand the importance of precision diagnostics. The FDA granted accelerated approval of Bayer's VITRAKVI (larotrectinib) for adult and pediatric solid tumors containing NTRK fusions1. The approval was one of the first tissue agnostic approvals based on genotyping results, and included patients with unresectable or metastatic cancer. For 12 cancer types, the overall response rate was 75% with 22% complete response and 53% partial response. In addition to VITRAKVI, Genentech's entrectinib has a "breakthrough" status and is being evaluated for the potential treatment of advanced or metastatic tumors that harbor NTRK or ROS1 gene rearrangements.
Read More

Evolution of non-invasive prenatal testing (NIPT) testing

Catagory: NGS, #Quality, New Reference Material, reference materials, trisomy, Reproductive Health, Non-invasive Prenatal Testing

Posted by Agnes Caruso on Feb 5, 2020 11:45:00 AM
Prenatal screening for aneuploidy has changed dramatically since the 1970s. Non-invasive methods developed in the 1980s and 1990s, combined measurements of maternal serum analytes and ultrasonography. The problem with those methods was not just a high false-negative rate of 12% to 23%, a high positive rate of 5% and a poor sensitivity, ranging from 50% to 95% 1. Uncertain results frequently led to invasive procedures such as amniocentesis or chorionic villi sampling to perform karyotyping on fetal samples. Both of those procedures carry a risk of miscarriage.
Read More

Multi-Lab Study of Fusion RNA Reference Standards for Targeted NGS

Catagory: NGS, reference materials, AACR, NTRK, RNA fusion

Posted by Andrew Anfora, PhD on Jan 28, 2020 11:45:00 AM
Sourcing assay validation samples as positive run controls or workflow controls in targeted NGS RNA fusion assays remains a challenge today. This is further exacerbated with clinical labs looking to provide validated NGS assays for patient stratification in a host of new drugs in clinical trials or newly approved targeting fusion genes, such as NTRK genes (Larotrectinib, Loxo/Bayer) and Entrectinib (Genentech/Roche) for rare cancers in adult and pediatric patients, and RET (Loxo/Lilly) for lung cancer. SeraCare produces several RNA fusion reference materials. This article describes the development and multi-laboratory evaluation of a pan-cancer multiplexed Fusion RNA reference standard for analysis of clinically relevant fusion genes in solid tumors. The evaluation was conducted at 5 different laboratories on different NGS platforms (amplicon- and hybridization capture-based) as well as at different RNA inputs within a platform. Results highlight the utility of this Fusion RNA reference material to support clinical NGS assays as positive controls in solid tumor cancer patient stratification for many of these fusion-based targeted therapies.
Read More

Making the Shift from Technological Innovation to Operational Excellence: Delivering on the Promise Of Next-Generation Sequencing for Personalized Medicine

Catagory: NGS, clinical genomics

Posted by Peter Duncan on Apr 22, 2019 9:44:00 AM
As originally seen in The Journal of Precision Medicine March 2019. Targeted therapies and now recently, immunotherapies, have demonstrated great promise towards increasing response rates, as well as duration of response for cancer patients. This is often achieved by understanding biomarkers associated with therapeutic response and then stratifying patients accordingly.
Read More

AACR 2019 Day One Highlights: Next-Generation Car T Cells

Catagory: NGS, AACR

Posted by Catherine Huang on Apr 2, 2019 12:10:00 PM
I’m excited to be at the Annual AACR meeting at the Georgia World Congress Center in Atlanta, GA. AACR is my favorite scientific meeting because each year I am inspired by the remarkable research presented and leave the conference feeling I’ve learned an incredible amount in just a few days.
Read More

Video: See How an EQA Improves Clinical Genomics Testing with Affordable Custom Reference Standards

Catagory: NGS

Posted by Ram Santhanam on Mar 6, 2019 10:52:00 AM
Next-generation sequencing (NGS) has revolutionized how assay developers, laboratories, and clinicians are diagnosing, treating, and monitoring disease. As NGS panels grow to include an increasing number of important biomarkers, so too must the reference standards used for development, validation, and routine QC.
Read More

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

Catagory: NGS, qc management

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),
Read More

The Full Authority Companion Diagnostic

Catagory: NGS, FDA, clinical genomics

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.
Read More

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

Catagory: NGS, ctDNA, AMP, liquid biopsy

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
Read More

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

Catagory: NGS, AMP, clinical genomics

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.
Read More