Labs that demonstrate best practice clinical next-generation sequencing (NGS) quality management programs utilize positive run controls, designed for this purpose, to monitor assay analytical performance across each step of the clinical NGS workflow. Common parameters for assessing the analytical performance of a clinical NGS run include sensitivity (true positives), specificity (true negatives),

There is that old adage that says the only thing that is constant is change. This is one of those universal truths we have all come to accept. Heck, even Dunkin' Donuts, widely credited as being the inventor of the word “Donut,” is dropping the word from their brand name. Blasphemy! But that is for another blog...

What does it mean for an NGS assay to be bulletproof and why does your lab need it? In two previous blog articles (parts one and two), we’ve talked about the factors that go into making NGS assays that doctors can rely on to deliver targeted, lifesaving therapies to their patients. Bulletproof assays are the tests that make your lab a trusted name in the NGS field, a leader in a rapidly-growing market. But, as we’ve written, genetic sequencing is complex, expensive, and time-consuming. Therefore, finding ways to do it more efficiently, while maintaining the quality of your tests, is in the best interests of your lab and its customers. As a refresher, here are the three steps for building a bulletproof clinical NGS assay: Consulting with experts Outlining your validation and quality control (QC) strategies together Evaluating reference material options We’ve already covered the first two steps. In this article, we’ll look at the third one. Choosing the right reference material technology can help control the high validation and running costs of highly multiplexed assays.

Despite the absence of clear guidelines or firmly established best practices, next-generation sequencing (NGS) assays are becoming the method of choice for gene fusion detection. This is significant because, although some of the cancers that contain fusion RNAs are rare, they’re now treatable thanks to new targeted therapies. If your assay can detect fusion RNAs, it can help profile tumors for important diagnostic, prognostic, and therapeutic targets, which can lead to improved patient outcomes. The old FISH method limited you to one type of fusion variant at a time; it was effective, but also slow and cumbersome. With the latest NGS techniques, detecting fusion RNAs is more efficient than ever. It’s more sensitive and can detect multiple fusions in the same assay. Nevertheless, it’s still challenging because of the complex workflows and the need to rigorously ensure performance across all fusion variants. From extraction, to library prep, to sequencing, to the bioinformatics pipeline, there are countless points where something could go wrong.