Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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Dale Yuzuki

Recent Posts

Analytical Validation using Biosynthetic Mutation Targets

Posted by Dale Yuzuki on Jan 13, 2016 12:00:00 AM
The National Cancer Institute has started several significant clinical trials to confirm what is believed intuitively about precision medicine: that molecular characterization of tumors leading to personalized therapy may be more effective than standard cancer treatments. Announced in August of 2015, an NCI-sponsored effort called Molecular Analysis for Therapy Choice has 10 trial arms, with additional arms opening in April or May of 2016, with an ultimate goal of enrolling 3,000 patients. (More information about the MATCH trial can be found here.)
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Newsworthy Science in 2015

Posted by Dale Yuzuki on Dec 28, 2015 12:00:00 AM
Vaccines“Knowledge of science is one of the most beautiful things humans have to offer each other.” Alan Alda, Actor and Science Communicator, who has a namesake Alan Alda Center for Communicating Science, Stony Brook University.
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Sanger versus Next-Generation Sequencing Infographic

Category: SeraSeq, NGS, reference materials

Posted by Dale Yuzuki on Dec 16, 2015 12:00:00 AM
It is hard to believe that next-generation sequencing has only been around for a little over ten years, but has had a profound impact on many frontiers of basic and applied genetics. To contrast the first-generation (Sanger sequencing by capillary electrophoresis) and the next-generation sequencing (NGS) approaches, we provide you with this infographic.
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Video Interview: Developing Aneuploidy Reference Materials

Category: SeraSeq, clinical genomics, NIPT, reference materials

Posted by Dale Yuzuki on Nov 24, 2015 12:00:00 AM
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What is Non-Invasive Prenatal Testing (NIPT)?

Category: NIPT

Posted by Dale Yuzuki on Nov 17, 2015 12:00:00 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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Association for Molecular Pathology 2015 Conference Highlights

Category: AMP, clinical genomics, cancer

Posted by Dale Yuzuki on Nov 13, 2015 12:00:00 AM
Micrograph of Lung Carcinoma Fine Needle Aspirate courtesy of Ed Uthman via Flickr This year's Association for Molecular Pathology conference was held in Austin Texas November 4-7 2015 had the theme of 'Realizing the Dream of Precision Medicine'. Here are a few of the presentations that stood out as outstanding, and the conference program indicates where the field of molecular pathology currently places its emphasis (which is primarily oncology) and where it may be headed in the coming years (including rare genetic disorders, non-invasive prenatal testing, and even a plenary on the human microbiome).
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Posters from AMP 2015 Available for Download

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

Posted by Dale Yuzuki on Nov 9, 2015 12:00:00 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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Circulating tumor DNA liquid biopsy needs reference standards

Category: AMP, ctDNA, reference materials

Posted by Dale Yuzuki on Nov 3, 2015 12:00:00 AM
The science of metrology is tightly coupled with biological science, in tandem with biology becoming less descriptive and more quantitative over the past half-century. The US National Institute of Standards and Technology (NIST), an agency of the US Department of Commerce, has been established to ‘promote U.S. innovation and industrial competitiveness by advancing measurement science, standards and technology in ways that enhance economic security and improve our quality of life’.
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Association of Molecular Pathology Meeting Nov 4-7 2015

Category: AMP, NIPT, Molecular Pathology, cancer

Posted by Dale Yuzuki on Oct 30, 2015 12:00:00 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: What are the sources of variability in FFPE material?

Category: NGS, cancer

Posted by Dale Yuzuki on Oct 27, 2015 12:00:00 AM
In this video interview Dr. Greg Tsongalis addresses sources of pre-analytic variability when processing formalin-fixed, paraffin-embedded (FFPE) samples in a pathology laboratory setting. By 'pre-analytic', he refers to the kinds of kits used for DNA extraction, and other factors that may have a significant impact on the quality of the results. He also discusses his work on clinical assay development for somatic mutation detection using NGS technology.
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