Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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What lessons for liquid biopsy have been learned from fetal aneuploidy testing?

Catagory: ctDNA, NIPT, liquid biopsy

Posted by Russell Garlick on Sep 30, 2016 1:06:00 PM
Non-invasive prenatal screening (NIPS) is currently offered in over 80 countries, covering over 80 million annual births, with an estimated volume of over one million screening tests performed annually. First offered in 2011, there has been rapid adoption of these genomic tests in the marketplace.
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The current state of non-invasive prenatal testing

Catagory: NIPT

Posted by Yves Konigshofer on Dec 9, 2015 10:51:00 AM
Sometimes a single remark can effectively summarize a very complex problem. While the November 12, 2015 FDA Public Workshop on “Standard Based Approach to Analytical Performance Evaluation of Next Generation Sequencing In Vitro Diagnostic Tests” focused primarily on tests that look for germline and somatic variants, a comment made by Jared Maguire – Counsyl’s ‎Director of Computational Biology – about 1 hour 14 minutes into the workshop explained a lot about the current state of non-invasive prenatal testing (NIPT) and what patients, physicians and insurers are experiencing; more on that later.
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Video Interview: Developing Aneuploidy Reference Materials

Catagory: NIPT, SeraSeq, clinical genomics, reference materials

Posted by Dale Yuzuki on Nov 24, 2015 10:50:00 AM
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What is Non-Invasive Prenatal Testing (NIPT)?

Catagory: NIPT

Posted by Dale Yuzuki on Nov 17, 2015 10:49:00 AM
  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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Posters from AMP 2015 Available for Download

Catagory: cancer, LDT, Accuplex, NIPT, SeraSeq, AMP, Molecular Pathology

Posted by Dale Yuzuki on Nov 9, 2015 10:48:00 AM
The Association for Molecular Pathology (AMP) was founded 'to provide structure and leadership to the emerging field of molecular diagnostics', and publishes the Journal of Molecular Diagnostics.
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Association of Molecular Pathology Meeting Nov 4-7 2015

Catagory: cancer, NIPT, AMP, Molecular Pathology

Posted by Dale Yuzuki on Oct 30, 2015 10:42:00 AM
  The annual meeting of the Association for Molecular Pathology will be held this year in Austin Texas from November 4-7, 2015. Laboratory Directors, Medical Directors and Pathologists worldwide will be hearing about the latest in clinical laboratory practices as well as the latest translational research being applied in the clinical setting.
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Video Interview: Why use reference materials for precision medicine?

Catagory: cancer, NGS, NIPT, clinical genomics, reference materials

Posted by Dale Yuzuki on Sep 29, 2015 10:36:00 AM
In this video interview, SeraCare’s Chief Scientific Officer Dr. Russell Garlick shares some background about  SeraCare’s history of manufacturing controls and reference materials for infectious  disease diagnostics, and how advances in Precision Medicine reveal a need for similar materials for the fields of oncology and maternal health.
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