Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Clinical Laboratories: You Are Not Alone.

“Ensure NGS-based tests for Personalized Medicine are safe and effective for guiding medical management decisions”

Posted by Matt Ryder on Nov 8, 2016 1:06:00 PM

Since the introduction of the GS20 in 2005 by 454 Life Sciences, Next Generation Sequencing (NGS) has found many applications in clinical diagnostics.  As a result of this transition from the long-held gold standard, Sanger sequencing, the primary challenge for clinical laboratories has shifted from data acquisition to ensuring these tests are safe and effective for guiding medical management decisions.

Many laboratories struggle to gain a thorough understanding of the analytic performance characteristics of their NGS tests.  The difficulty arises from the fact that these assays are comprised of highly complex, fragmented workflows, and have many different intended uses.  However, across the various practices currently used for NGS assay development, validation, and performance monitoring, there is a common goal: results must be as accurate, precise, and consistent as possible.

Read More

Topics: NGS, Reference Material, NGS assays, amp2016, next gen sequencing, False Negative, False Positive

Reference Materials for Your Unique Reproducibility Needs

The distinction between accuracy and precision.

Posted by Matt Ryder on Oct 12, 2016 11:06:00 AM

If you took a university introductory statistics course, you may have learned the distinction between accuracy and precision.  It may likely have been presented with an archery analogy, where ‘Accurate’ was represented by arrows loosely clustered around the target’s bull’s-eye, ‘Precise’ was shown as a tight grouping displaced from the center, and ‘Accurate and Precise’ was depicted as what every archer aims for, a tight grouping directly at the bull’s-eye.  Suddenly, words that are used interchangeably in everyday conversation took on dramatically different meanings.


Read More

Topics: NGS, Precision Medicine, FDA, Reference Material, SeraSeq, NGS assays, Tumor Mutation Mix, Sequencing quality control, Good Manufacturing Practices, variants, allele frequencies

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

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.

Read More

Topics: NIPS, ctDNA, biomimetic technology, liquid biopsy, circulating DNA, cell-free, testing

FDA-AACR Liquid Biopsies in Oncology Drug and Device Workshop

Important information for assay development and review by the FDA

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.

Read More

Topics: Diagnostics, LDT, Cancer Test, Circulating Tumor DNA, Clinical Testing, NGS, Precision Medicine, Mutation, ctDNA, FDA, Test Development, Reference Material, Oncology

IVD Guidance for NGS Manufacturers

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.

Read More

Topics: LDT, Molecular Diagnostics, Clinical Testing, NGS, FDA, Reference Material

Mary-Claire King at the European Society for Human Genetics 2016

Her vision of genomic medicine as a dialogue at ESHG 2016 in Barcelona, Spain

Posted by Dale Yuzuki on Jun 6, 2016 3:29:24 PM

Mary-Claire King is Professor of Genome Sciences and of Medicine (Medical Genetics) at the University of Washington (Seattle, WA), who first described a single gene on chromosome 17q21 (which she named BRCA1) being responsible for breast and ovarian cancer in many families. This work, published in Science in 1990, also revolutionized the study of many other common, single-gene diseases that are inherited in nature, and led to the discovery of BRCA2. 

 

Read More

Topics: Cancer, Inherited Disease, Oncology

SeraCare introduces AccuPlex™ Zika Reference Material

Recombinant viral technology to assist development of PCR-based Zika Virus diagnostic assays

Posted by Dale Yuzuki on May 10, 2016 9:00:00 AM

Guest author: Han Joo Lee, Ph.D., SeraCare Technical Product Manager

A cursory look at recent Zika Virus outbreak news headlines is alarming enough: “Zika Virus birth defects may be the ‘Tip of the Iceberg’, experts say”; “Brain damage in Zika babies is far worse than doctors expected”; and “Zika mutates extremely quickly, which is why it’s so scary”. In addition, for the United States the estimated range maps of the Aedes aegypti and Aedes albopictus have been recently updated, widening the range previously reported to all but 10 states within the US.

Read More

Topics: Accuplex, Genomics, viral technology, zika virus

American Association for Cancer Research 2016 ctDNA highlights

Circulating tumor DNA, along with immunotherapy, are two major themes of #AACR16

Posted by Dale Yuzuki on May 2, 2016 9:00:00 AM

At the American Association for Cancer Research conference recently held in New Orleans, LA (April 16 - April 20, 2016) one theme that generated considerable interest was circulating tumor DNA detection, sometimes called liquid biopsy (although that term also encompasses circulating tumor cells). A few of the ctDNA presentations are highlighted below.

Read More

Topics: Cancer, Circulating Tumor DNA, immunotherapy

Previewing the American Association for Cancer Research 2016 Conference #AACR16

The premier cancer research conference heads to the New Orleans Convention Center April 17 - 20, 2016

Posted by Dale Yuzuki on Apr 16, 2016 9:00:00 AM

With over “Cancer Moonshot: A Call to Action” 20,000 scientists, the American Association for Cancer Research conference describes itself as a ‘must-attend event for cancer researchers and the broader cancer community’. One sign of the prominence of this event is the fact that US Vice President Joseph Biden will be delivering a special closing address, in connection with the recent announcement of the  announced at the recent World Economic Forum.

Read More

Topics: Cancer, Genomics, cancer research

The FDA NGS-based Oncology Panels Workshop

Impressions from the first FDA workshop focusing on NGS-based oncology diagnostic tests

Posted by Yves Konigshofer on Apr 1, 2016 11:08:00 AM

The U.S. Food and Drug Administration on February 25, 2016 held an all-day public workshop entitled “Next Generation Sequencing-based Oncology Panels” at their White Oak campus in Silver Spring, Maryland. Companion diagnostics were a recurring theme of the initial FDA presentations at this Next Generation Sequencing-Based Oncology Panels Workshop and these important tests will be our focus here. The slides that were presented at the workshop are available (PDF) and are referenced below, and those presented by SeraCare’s CSO Russell Garlick start on page 196.

Read More
Evaluation-Small

Subscribe to Email Updates