Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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Eric Morreale

Recent Posts

4 Best Practices for QC in a Clinical Testing Lab to Ensure Accurate Results

Catagory: Molecular & Serology

Posted by Eric Morreale on Feb 18, 2020 9:00:00 AM
  What is a clinical laboratory director’s worst nightmare? That’s an easy one. The thought that, somehow, an inaccurate testing result has escaped their lab and convinced an unsuspecting clinician to make a poor patient care decision. So much of modern medical care is grounded in treatment decisions based on diagnostic testing results. According to one review of the data, 98 percent of in-patient populations get lab tests. False negatives can delay life-saving and life-improving patient care. False positives can cause patients to undergo unnecessary treatment, which can result in needless psychological, physical, and financial distress. No wonder lab directors are troubled by the possibility, no matter how small, of reporting inaccurate results - critical patient care decisions hang in the balance. (Not to mention the professional reputations of lab directors, the reputations of their labs and hospitals, and the trust of patients and clinicians.) To prevent errors in testing and reporting, quality control is a must. You need to be confident every time you report a result that your assays are working the way they are intended. Here are four tips for optimizing quality control to ensure accurate results in your clinical lab:
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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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How to Comply With CLIA and Pass PT With Ease

Posted by Eric Morreale on Feb 11, 2020 9:00:00 AM
  Proficiency testing under CLIA is no joke. Failed tests lead to costly downtime for equipment and personnel as labs troubleshoot to find the source of an error. In the case of proficiency testing (PT), failures lead to time invested in corrective-action measures, and in the worst case, cease-testing directives from regulatory authorities. A failed CLIA proficiency test — multiple failures, especially — is the ultimate black mark not only on the career of a lab director but on the reputation of a clinical lab.  The key to CLIA confidence is the same simple approach you took to ace your exams back in college: preparation. If you run your assays through their paces on a regular basis, and you use high-quality third-party controls to root out any weak points in your testing protocol and train your lab staff, CLIA proficiency testing will be a breeze.
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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.
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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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For Clinical Labs: Avoid False-Positives and Negatives by Being a Control Freak

Catagory: M&S

Posted by Eric Morreale on Nov 26, 2019 12:00:00 PM
Do you consider yourself a control freak? And by control, we mean quality control - the procedures and materials implemented to ensure test accuracy and precision. Most importantly, having the proper controls in place provides confidence in the accuracy of your tests and the reported results, reducing the risk of generating false-positives or false-negatives. A strong quality program has the added benefits of reducing both the amount of valuable staff time expended on troubleshooting, as well as costly instrument and assay downtime.
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How Third-Party Controls Can Help Keep Your Clinical Lab Within Budget (Without Sacrificing Quality)

Catagory: M&S

Posted by Eric Morreale on Nov 19, 2019 12:00:00 PM
As a clinical lab director, you are driven by two forces which, at first glance, may seem in opposition to each other. The first is your commitment to delivering accurate diagnostic test results to healthcare providers, a responsibility critical to ensuring that patients receive the most effective and timely treatment possible. In your lab, this means instituting a strong quality control (QC) program aimed at ensuring test performance and preventing the release of inaccurate results. The second driving force is the responsibility you have towards to running an efficient, cost-effective clinical lab operation. This entails the responsibility to manage resources efficiently, to stay within allotted budget guidelines, and to avoid unnecessary spending. The obvious assumption is that higher quality translates into higher costs (and bigger budgets). Look closer, however, and you’ll discover that the two forces outlined above are not necessarily opposed. As you’ll see below, increasing accuracy and reliability in a clinical testing lab — through investment in additional QC measures, such as high-quality third-party controls — can actually translate into decreasing costs. Staying within budget and providing reliable results can go hand in hand.
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3 Tips for Reducing Test Repeats and Lab Downtime

Catagory: M&S

Posted by Eric Morreale on Nov 12, 2019 12:00:00 PM
The world of a clinical testing lab is one of high pressure. The pressure comes from clinicians who want their results as quickly as possible. It comes from directors and managers who demand efficiency. And most of all, it comes from a constant stream of samples that never lets up. In this era of largely automated instrumentation (operating almost always at full capacity), few things are more frustrating to lab personnel than errors that result in downtime, troubleshooting, and the need to rerun tests. Reportable results is the most important metric in a clinical lab. Any result that is not reportable translates into higher costs, more downtime, and a growing backlog. What can you do to reduce momentum-killing test failures and repeats while increasing your reportable result rates?
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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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