Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Choose your Article Focus | NGS | Molecular & Serology

Evolution of non-invasive prenatal testing (NIPT) testing

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

Posted by Agnes Caruso,PhD on Feb 5, 2020
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.
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Multi-Lab Study of Fusion RNA Reference Standards for Targeted NGS

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

Posted by Andrew Anfora, PhD on Jan 28, 2020
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.
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What is Non-Invasive Prenatal Testing (NIPT)?

Category: NIPT, #Quality, New Reference Material, reference materials, trisomy, Reproductive Health

Posted by SeraCare Team on Jan 20, 2020
Fetal aneuploidy affects about 9 in 1,000 live births. The definition of aneuploidy is an abnormal number of chromosomes ; with 23 pairs of chromosomes in humans, 46 is the normal number, while aneuploidy individuals will have 45 or 47.  In trisomy, there is one additional chromosome, typically chr21, 18 or 13 (it is not a coincidence that these are the smallest chromosomes in humans).  Historically, the invasive methods amniocentesis and chorionic villus sampling (CVS) were used with risk to the pregnancy, with about a 1% chance of miscarriage due to the procedure. Non-invasive methods based upon ultrasound and serum biomarkers are useful screening tests, but were of limited reliability as they were indirect measures of chromosomal abnormalities1.   Photograph courtesy of Flickr user Can H.
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So Many Posters, So Little Time

Category: ctDNA, AACR, RNA fusion, TMB

Posted by Sam Blier on Jun 6, 2019
Cancer research is purposely methodical and measured. So – somewhat paradoxically – it can be difficult to keep up with the steady stream of discoveries in the literature and presented at conferences like AACR. As a developer and manufacturer of platform-agnostic NGS reference standards, we’re in a unique position to collaborate with cancer genomics assay developers, laboratories, pharmaceutical companies, and other organizations invested in more precise and robust cancer tests.
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Newly Published Multi-Laboratory Study Provides Utility and Validation of the Use of ctDNA Reference Standards

Category: ctDNA, cfDNA

Posted by Russell Garlick, PhD on May 30, 2019
I am pleased to share findings from a newly published peer-reviewed study with foundational circulating tumor DNA (ctDNA) pre-analytical and analytical testing in multiple technologies and assay chemistries. The study, “Multi-laboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements,” was just published in The Journal of Molecular Diagnostics (He, Stein et al. 2019).
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Making the Shift from Technological Innovation to Operational Excellence: Delivering on the Promise Of Next-Generation Sequencing for Personalized Medicine

Category: NGS, clinical genomics

Posted by Peter Duncan on Apr 22, 2019
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.
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Precision Medicine and Clinical Labs: AACR Dinner Seminar Recap

Category: clinical genomics, cfDNA, AACR

Posted by Trevor Brown on Apr 15, 2019
One of the core aims of precision medicine is to provide a more tailored approach to disease diagnosis, therapy selection, and patient monitoring to improve the overall quality of life for patients with disease. Indeed, this aim has been at the heart of the high interest and study of the potential of liquid biopsies to improve patient care in earlier detection of cancer, treatment, and surveillance.
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Presenting NTRK Reference Materials for Global Assay Standardization at AACR 2019

Category: SeraSeq, AACR, NTRK, RNA fusion

Posted by Catherine Huang, PhD on Apr 8, 2019
On the last morning of AACR 2019, I had the privilege of presenting a poster together with my colleague, Sebastian Bender from Bayer AG, in Berlin. Because of this, I didn’t have a chance to attend any talks, but I still wanted to finish out my blog series with highlights from each day of the conference.
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AACR 2019 Day Three: Understanding T-cell Therapy for Unique Cancer Mutations

Category: cancer, AACR

Posted by Catherine Huang, PhD on Apr 4, 2019
My third day at the AACR Annual meeting was a day of phenomenal presentations. I am struggling to choose just one to tell you about because I attended multiple inspiring, thought-provoking, and even entertaining talks today. I decided to report on the plenary presentation by Steven A. Rosenberg entitled “T-cell therapy targeting unique cancer mutations” because I think this story has the most potential to positively impact patient outcomes.
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AACR 2019 Day Two: Learning About the Microbiome in Immuno-Oncology

Category: cancer, AACR

Posted by Catherine Huang, PhD on Apr 3, 2019
At the AACR Annual Meeting, I was most excited to attend the major symposium entitled “The Microbiome as an Orchestrator of Immunity and Cancer Immunotherapy,” which featured three highly informative talks. First, Gregory Sonnenberg from Weill Cornell Medicine gave an overview of how the microbiome contributes to immune homeostasis in the intestine.
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