Precision Medicine Requires Precision Laboratories

Rajeevan, Mangalathu S.; Li, Tengguo; Unger, Elizabeth R.

doi:10.1016/j.jmoldx.2017.01.001

Cited by 2 publications

(2 citation statements)

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“…NGS methods are increasingly the preferred platform of choice to analyze molecular biomarker changes in patient samples. 6 The main strength of NGS lies in its ability to multitask different forms of molecular assays (eg, DNA analysis, RNA analysis, epigenetics, and microbiome analysis) on the same hardware. With the ever-decreasing costs of the NGS hardware technology, high-throughput sequencing is now within the reach of many small-to mid-sized laboratories here in the United States and around the globe.…”

Section: Discussionmentioning

confidence: 99%

“…2 With the availability of an increasing number of US Food and Drug Administrationeapproved, targeted cancer therapies, there is increasing demand from oncologists for multiplexed detection of cancer biomarkers as opposed to the previous single biomarker paradigms. 6 The ability to detect multiple biomarkers on a single NGS platform in a multiplexed manner (ie, many patients on a single run) is a key advantage of NGS technology. 1 Although NGS technologies are undoubtedly powerful and have the potential to alter current clinical practice dramatically, there are many hurdles to their routine clinical implementation.…”

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confidence: 99%

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Evaluation of Commercial Next-Generation Sequencing Bioinformatics Software Solutions

Gullapalli

2020

The Journal of Molecular Diagnostics

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Next-generation sequencing (NGS) diagnostics continue to expand rapidly in clinical medicine. An everexpanding menu of molecular biomarkers is deemed important for diagnostic, prognostic, and therapeutic assessment in patients. The increasing role of NGS in the clinic is driven mainly by the falling costs of sequencing. However, the data-intensive nature of NGS makes bioinformatic analysis a major challenge to many clinical laboratories. Critically needed NGS bioinformatics personnel are hard to recruit and retain in small-to mid-size clinical laboratories. Also, NGS software often lacks the scalability necessary for expanded clinical laboratory testing volumes. Commercial software solutions aim to bridge the bioinformatics barrier via turnkey informatics solutions tailored specifically for the clinical workplace. Yet, there has been no systematic assessment of these software solutions thus far. This article presents an end-to-end vendor evaluation experience of commercial NGS bioinformatics solutions. Six different commercial vendor solutions were assessed systematically. Key metrics of NGS software evaluation to aid in the robust assessment of software solutions are described. Comprehensive feedback, provided by the TriCore Reference Laboratories molecular pathology team, enabled the final vendor selection. Many key lessons were learned during the software evaluation process, which are described herein. This article aims to provide a detailed road map for small-to mid-size clinical laboratories interested in evaluating commercial bioinformatics solutions available in the marketplace.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%