Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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Expert opinions on LDT transparency and standardization

Catagory: LDT, clinical genomics

Posted by Sam Blier on Oct 6, 2017 11:43:00 AM
Laboratory-developed tests (LDTs) have proliferated in the absence of clear guidelines and regulations. So how can laboratorians, physicians, and patients be assured of the quality of the diagnostic result? A panel of clinical genomics experts (Girish Putcha, MD, PhD, Director of Laboratory Science, Palmetto GBA; Roger Klein, MD, Principal, JD Consulting; Elaine Lyon, PhD, Medical Director, Molecular Genetics and Genomics, ARUP Laboratories; and Russell Garlick, PhD, CSO, SeraCare) delved into this topic during the audience Q&A session of a recent webinar hosted by GenomeWeb (you can download a full report on the entire series here).  
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2 Ways to Be Sure Your Clinical Laboratory-Developed Test Results Are Correct

Catagory: LDT, clinical genomics

Posted by Dale Yuzuki on Jun 8, 2017 11:03:00 AM
If you’re involved with complex diagnostic tests — in particular, next generation sequencing (NGS)-based laboratory-developed tests (LDTs) — producing the right results consistently can be a big concern. Your test equation has many different variables, each of which carries a chance of something going wrong: The multiple manual steps of the wet lab work. The vagaries and many parameters on the dry lab (bioinformatics) analyses. The challenge of interpretation (depending on the nature of the test). When an LDT Goes Wrong The recent high-profile fiasco at fingerstick microfluidics diagnostics company Theranos Incorporated is a case study on the genuine harm testing errors can inflict on patients. The Wall Street Journal reports that the undue anxiety and other harm patients experienced from incorrect test results sparked at least 10 lawsuits against the company in California and Arizona. “While inaccurate test results can occur at any laboratory, Theranos failed to maintain basic safeguards to ensure consistent results, according to regulators, independent lab directors and quality-control experts.” Theranos may be one extreme example, but in late 2015, the U.S. Food and Drug Administration (FDA) published a report outlining 20 instances of harm from LDTs. The acute dangers of false-positive and false-negative results from laboratory developed tests are real: When patients are told they have conditions they do not actually have, it can cause unneeded distress and unnecessary treatment. When life-threatening diseases go undetected, patients can suffer and die. And naturally, the FDA wants to exert its regulatory authority consistent with its mandate. (For additional background on the FDA’s oversight push, read our point / counterpoint articles.) In our experience, NGS-based LDTs are error-prone for two main reasons: The inadequacy of “known positive” samples. The lack of peer review for comparing one lab’s results with another’s. Here, we’ll take a closer look at each problem and suggest a solution.
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FDA-AACR Liquid Biopsies in Oncology Drug and Device Workshop

Catagory: cancer, LDT, NGS, ctDNA, FDA, clinical genomics, reference materials

Posted by Yves Konigshofer on Aug 8, 2016 9:09:00 AM
The presentations during the FDA-AACR Liquid Biopsies in Oncology Drug and Device Development Workshop on July 19, 2016 included several important pieces of information that will likely guide the development of assays and their review by the FDA.
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IVD Guidance for NGS Manufacturers

Catagory: LDT, NGS, FDA, clinical genomics, reference materials

Posted by Russell Garlick on Jul 14, 2016 3:30:00 PM
After 17 months of deliberations since its first open meeting February 20, 2015 on NGS IVD assay oversight, the U.S. Food and Drug Administration (FDA) issued DRAFT guidance for Stakeholders and FDA staff. The document “Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases” was published online on July 6, 2016. This document (PDF located here) is for analytical validity and not for clinical validation.
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LDT Oversight: Why the FDA makes a point

Catagory: LDT, FDA, reference materials

Posted by Trevor Brown on Dec 21, 2015 1:23:00 PM
Recently, the FDA upped the ante in the ongoing debate over its desire to regulate laboratory developed tests (LDTs) with the release of a report detailing the ‘real and potential harms to patients and to public health’ arising from LDTs.  This debate has been heating up for several years now—not coincidentally with the emergence of precision medicine and the rapid adoption of data-intensive tools such as Next Generation Sequencing (NGS) and the growing pipelines of targeted therapeutics.  One might argue that the horse has already left the barn and the FDA are trying to corral it back in.
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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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Precision Medicine Perspective

Catagory: cancer, LDT, clinical genomics

Posted by Dale Yuzuki on Oct 15, 2015 10:37:00 AM
Dr. Condie Carmack has over 30 years of experience in the life sciences and diagnostic industries, having been prior to GenomOncology the Director of Oncology Programs at Vela Diagnostics, developing an NGS-based system for worldwide regulatory approval, and prior to that helped found (as General Manager) the Cancer Genetics Laboratory at Baylor College of Medicine with Dr. Marilyn Li.
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