Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Choose your Article Focus | NGS | Molecular & Serology

Yves Konigshofer, PhD

Recent Posts

The Full Authority Companion Diagnostic

Category: NGS, FDA, clinical genomics

Posted by Yves Konigshofer, PhD on Feb 21, 2019
It is very likely that on your last flight the turbofan engines were controlled by full authority digital engine controls – FADECs for short. FADECs have played a significant role in keeping airline ticket prices low (except during holidays) by continually adjusting engine parameters so that the engine operates with maximum fuel efficiency and within operational limits, allowing pilots to focus on other tasks.
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Developing a Rock-Solid Lung Cancer Assay, Part 2

Category: cancer, NGS, Assay Development, Lung Cancer

Posted by Yves Konigshofer, PhD on Jul 2, 2018
In a recent post, we discussed key considerations for designing a robust next-generation sequencing (NGS)-based lung cancer assay. Putting those plans into action in the development phase brings forth a new set of challenges. Through our experience developing NGS reference materials and the relationships we’ve built with assay developers of all stripes, we’ve identified those important factors and ways to navigate them. But before you begin designing and optimizing your assay, you should become very familiar with binomial and Poisson distributions and their use because the outcome of many analytical steps can be modeled and explained with them.
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Developing a Rock-Solid Lung Cancer Assay

Category: cancer, NGS, reference materials, Lung Cancer

Posted by Yves Konigshofer, PhD on Mar 15, 2018
Next-generation sequencing (NGS) allows deeper insights than ever before into the human genome and a host of diseases and conditions. So it makes sense that there is a worldwide movement to employ NGS in a growing number of applications. But as the saying goes, with great power comes great responsibility.
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Extracting Formalin-fixed, paraffin-embedded (FFPE) nucleic acids for NGS

Category: NGS

Posted by Yves Konigshofer, PhD on Mar 14, 2017
In the course of patient care, formalin-fixation and paraffin-embedding (FFPE) of biopsy tissue samples are routinely performed, where these samples can be analyzed by histology and archived to link the sample with clinical long-term follow-up. With the development of advanced NGS-based oncology gene panels, it is becoming increasingly important to consider pre-analytic variables when extracting nucleic acids from FFPE-treated samples. This post covers frequently asked questions (FAQs) around the extraction of nucleic acids from FFPE samples for downstream NGS analysis.
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FDA-AACR Liquid Biopsies in Oncology Drug and Device Workshop

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

Posted by Yves Konigshofer, PhD on Aug 8, 2016
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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The FDA NGS-based Oncology Panels Workshop

Posted by Yves Konigshofer, PhD on Apr 1, 2016
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.
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Does synthetic DNA sequence behave the same as cell-line DNA?

Posted by Yves Konigshofer, PhD on Feb 5, 2016
A recurring question SeraCare has been asked is whether synthetic DNA sequences perform similarly to cell line-derived sequences. For example, it could be hypothesized that secondary structure and/or the GC content of the DNA around a particular amplicon might lead to a detection bias when only 400 bases on either side of the amplicon are present compared to when many kilobases are present.
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The current state of non-invasive prenatal testing

Category: NIPT

Posted by Yves Konigshofer, PhD on Dec 9, 2015
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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