An end-to-end solution for next generation sequencing (NGS)

by | Aug 9, 2018 | Blog, Molecular News

As precision medicine becomes increasingly prevalent, the clinical laboratory is taking on an ever-larger role in providing cost effective, high quality patient care. This shift towards individualized care creates exciting opportunities for laboratories, but for many labs the increased volume and complexity brought by molecular and genetic testing puts pressure on existing structures. As health systems are figuring out how to provide better care using fewer resources, labs are also looking at how to do more with less.

Sunquest’s investments in precision medicine are aimed at providing labs with flexible, scalable solutions to support more detailed workflows and new molecular diagnostics. When we talk about providing an end-to-end solution for world-class laboratories, we are talking about making it possible for any lab—independent or hospital-based—to manage the growing scale of next-generation sequencing (NGS), from tracking specimens to generating and delivering actionable clinical reports.

Scaling laboratory diagnostics to meet clinical demand

The rapid rise in genetic testing, particularly next-generation sequencing (NGS), provides a compelling example of the challenge facing laboratories. Thanks to dramatic advances in molecular medicine, the number of genetic conditions labs are testing for was 12 times greater at the end of 2017 than just 5 years earlier. As research increases the knowledge of gene-disease associations, the number of genes tested has increased by almost 17 times in the same period!

Meanwhile, the number of labs performing genetic testing grew from 395 in 2013 to 483 in 2017—an increase of only 22%, not even close to matching the growth in tests offered and panel size, not to mention volume. And, given today’s economic landscape, we’re not likely to see that number of labs rise to meet this staggering demand. Instead, laboratories will need to scale their test volume significantly; both in managing samples and panels in the wet lab as well as knowledgeably assessing genetic variants and diseases in the dry lab. That’s where Sunquest’s precision medicine solutions come in to play.

For labs conducting NGS as one of its molecular offerings, Sunquest Mitogen™ LIMS and Sunquest Mitogen™ Genetics stands apart. From integrated accessioning to guided workflows, and variant analysis tools to enhanced patient reports, Sunquest Mitogen helps labs to standardize and streamline next-generation sequencing (NGS) testing and analysis for actionable clinical reporting and molecular diagnostics.

An end-to-end solution for next-generation sequencing

Sunquest Mitogen enables the NGS process beginning to end with two components from the wet bench, with Sunquest Mitogen LIMS, to the dry lab, with Sunquest Mitogen Genetics. And because Sunquest Mitogen interfaces readily with Sunquest Lab and other laboratory information systems, physician orders—along with patient information—can flow directly to the LIMS, and once the process is finished, a comprehensive report can flow from variant analysis to a physician portal or EHR. In between, Sunquest Mitogen capabilities increase the efficiency of NGS workflows and bring consistency to genetic analysis, putting precision medicine diagnostics within closer reach for more healthcare providers – and most importantly, patients.

Efficient workflows:

Kicking off the end-to-end solution for NGS, Sunquest Mitogen LIMS offers out-of-the-box workflow support –not only for NGS but also for many other common molecular workflows, including PCR, FISH, Chromosomal Microarray, and several others, to support applications related to genetics, cytogenetics, newborn screening and more. Because no two labs operate in an identical manner, workflows may be configured by rearranging, adding, expanding, or removing steps to suit a particular lab’s needs. Standardized workflows help a lab ensure that complex processes are performed according to their defined protocol time after time, making the lab more efficient and more accurate, yet also tailored to its unique needs. Each workflow step in the LIMS is automatically tracked by instrument, container, time and technician, for detailed, error-proof audit trails and transparent lab management.

For more on the laboratory management capabilities of Sunquest Mitogen LIMS, read our blog post Five Core Competencies of Molecular Lab Management.

Intelligently guided analysis:

Sunquest Mitogen Genetics offers filtration and annotation tools to empower labs to take the immense number of variants identified through next-generation sequencing and quickly winnow these down to the instances that require further interpretation. At the assessment stage, Sunquest Mitogen’s knowledge management system helps the analyst identify and apply relevant evidence, using public databases, curated content or applicable case results. Members of the VariantWire® network also have access to invaluable real-time data from peer labs. Participating labs sharing de-identified, clinically-validated genomic data with each other can interpret data with the most recent information available, often months before it appears in a public database.

For more on the types of tools that enhance variant interpretation for genetic analysis, see our blog post, Next-Generation Sequencing at Scale.

About the author

Nabil Hafez

Nabil Hafez

Sr. Director Product Management and Marketing, Sunquest Mitogen

After cutting his teeth on the Human Genome Project, Nabil was hooked on genetics. Sixteen years later, his passion remains focused on enabling technologies to bring precision medicine to mainstream medicine.

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