Issues with combining next-gen sequencing, newborn screening | Experimental blood test may aid in autism diagnosis | Biomarker of liver damage may persist after hepatitis C treatment
March 21, 2017
AACC SmartBrief
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Issues with combining next-gen sequencing, newborn screening
Combining next-generation sequencing and newborn screening helps labs screen for more childhood diseases without additional costs. However, there are issues, including downstream health care costs, large amounts of information that doesn't directly benefit newborns and the fact that few US labs can perform NGS testing at scale.
Clinical Laboratory News (3/2017) 
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Science Briefs
Experimental blood test may aid in autism diagnosis
An experimental blood test yielded 97.6% accuracy in diagnosing children with autism spectrum disorder and 96.1% accuracy in determining those without ASD, researchers reported in PLOS Computational Biology. The findings were based on blood samples from 159 children ages 3 to 10.
Reuters (3/16),  HealthDay News (3/16) 
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Biomarker of liver damage may persist after hepatitis C treatment
About a third of hepatitis C patients who achieve sustained virological response following treatment continued to show signs of liver inflammation, according to an 834-patient study in the journal PLOS ONE. About 10% of patients had persistently elevated levels of the enzyme aminotransferase, and 25% had levels that required surveillance.
MD Magazine online (3/16) 
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Tech Briefs
Researchers study gene regulation to control pain
Researchers are using CRISPR-Cas9 gene-editing technology to study how regulating genes that reduce inflammation may help manage chronic pain. Their work, published in the journal Tissue Engineering, includes development of a virus to deliver the gene therapy.
Deseret News (Salt Lake City) (3/15) 
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Policy Briefs
Bill calls for Medicare to cover blood-based CRC tests
US Rep. Donald Payne Jr., D-N.J., is sponsoring a bill that would have Medicare cover all FDA-approved blood-based colorectal screening tests. (3/17) 
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Practice Briefs
FDA OKs Siemens Healthineers' HCV genotype assay
Siemens Healthineers has obtained premarket approval from the FDA for its Versant HCV Genotype 2.0 assay, which can detect all hepatitis C virus genotypes using a single-step RT-PCR kit that can be operated on thermocyclers. The assay caters to the volume requirements and needs of large and small labs with its variety of automation options.
GenomeWeb Daily News (free registration) (3/20) 
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Business/Corporate Briefs
Loxo Oncology partners with Roche unit on companion Dx development
A partnership has been reached by Loxo Oncology and Roche Holding subsidiary Ventana Medical Systems to create a pan-TRK immunohistochemistry-based companion diagnostic test to determine which patients may respond to Loxo's cancer drug larotrectinib. The test will be developed using Ventana's OptiView DAB detection technology and will be initially marketed as an analytical assay; the companies did not disclose additional terms of the deal.
GenomeWeb Daily News (free registration) (3/20) 
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NIH awards $2.8M for DiamiR's Alzheimer's disease test
Princeton, N.J.-based DiamiR has won a three-year Phase IIB Small Business Innovation Research grant worth about $2.8 million from the NIH's National Institute on Aging for the development of its CogniMir test. Kira Sheinerman, CEO of the microRNA diagnostics firm, said the test is initially intended for characterizing patients with early-stage Alzheimer's disease in clinical trials but could eventually be used for risk evaluation or monitoring of disease progression.
GenomeWeb Daily News (free registration) (3/15) 
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Grant supports development of Biocartis' automated MSI test
The Flanders Organization for Innovation & Entrepreneurship has awarded Belgian molecular diagnostics company Biocartis a grant worth approximately $805,000 to create an automated microsatellite instability test for colorectal cancer that will run on its MDx Idylla platform. Biocartis will develop the test, which is intended to be launched next year, based on novel MSI markers identified at the VIB-KU Leuven Center for Cancer Biology.
Genetic Engineering & Biotechnology News (3/15) 
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Impact of Preanalytical Variables on Critical Care Point of Care Testing
Join AACC for an in-depth exploration of how preanalytical variables affect POC critical care testing and a discussion of several cases with an invited laboratory professional. Learn the sources of preanalytical variability in critical care tests, how POC has some advantages over testing in the core laboratory, and how proper sample handling can improve the test result quality.
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Navigating Conflict at Work: How to Reach Resolutions that Improve Your Work and Your Relationships
Each day, we are challenged with competing interests, clashing personalities, limited time and resources, and fragile egos. Join AACC and LabLeaders on April 5 and get the tools you need to overcome these challenges in a thoughtful, productive way.
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