Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Choose your Article Focus | NGS | Molecular & Serology

Supporting High-Quality Testing for Women’s Health

Catagory: NIPT, Breast Cancer, Reproductive Health, Non-invasive Prenatal Testing, HIV

Posted by Agnes Caruso on May 15, 2020 11:00:00 AM
This week is National Women’s Health week1 and is dedicated to women to focus on their health and take steps to improve it. As Women’s Health week traditionally starts on Mother’s Day, we tend to focus primarily on Reproductive Health but it is important to look at the complete picture as some women encounter various conditions and treatments prior to starting a family. Women’s health encompasses things like fertility, pregnancy, infections, cancer, but also many underlying health conditions such as hypertension, diabetes, cardiovascular or respiratory conditions. Many of women’s health problems can be diagnosed by using advanced testing methods. As the technology develops and becomes more complex, ensuring the best performance of the tests is even more critical. With better testing, it is possible to improve outcomes for women around the world.
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Do COVID-19 infections affect NIPT?

Catagory: NGS, NIPT, Non-invasive Prenatal Testing, SARS-CoV-2, COVID-19

Posted by Prof. Joris Vermeesch, Ph.D. on Mar 26, 2020 3:45:00 PM
We would like to present a guest blog from Prof. Joris Vermeesch, Ph.D. This blog originally posted on the Noninvasive Prenatal Testing Online Resource Page on the 17th March summarizes our current understanding of any possible interference of SARS-CoV-2 infection on the outcomes of NIPT testing.
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Assessing RNA Extraction with FFPE Fusion RNA Reference Materials

Catagory: NGS, reference materials, RNA fusion

Posted by Dan Brudzewsky on Mar 11, 2020 12:00:00 PM
This is a third blog in a series on RNA fusions, this time focusing on how the FFPE Fusion RNA materials are used as RNA extraction controls.
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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.
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Evolution of non-invasive prenatal testing (NIPT) testing

Catagory: NGS, NIPT, #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.
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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.
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What is Non-Invasive Prenatal Testing (NIPT)?

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

Posted by SeraCare Team on Jan 20, 2020 3:00:00 PM
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

Catagory: ctDNA, AACR, RNA fusion, TMB

Posted by Sam Blier on Jun 6, 2019 10:32:00 AM
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

Catagory: ctDNA, cfDNA

Posted by Russell Garlick on May 30, 2019 3:32:00 PM
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

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.
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