NEW YORK (GenomeWeb) – Golden Helix officially entered the clinical testing market this week with the launch of VarSeq, new software for clinical laboratories that supports gene-panel based diagnostics as well as next-generation sequencing-based clinical workflows.
According to Golden Helix, the newest member of its family of products streamlines the process of annotating and filtering variants that are the output of NGS pipelines, enabling research scientists and clinicians to easily and efficiently identify variants of interest. It has a simple user interface and scalable architecture that features automated and repeatable workflows, note-taking and reporting tools, and filter parameter prototyping.
It includes specialized support for cancer gene panel workflows including variant filtration and annotation capabilities and quality control tools to cross check the fruits of sequencing runs. Furthermore, it can help users manage, analyze, and annotate whole genome and whole exome datasets including algorithms for variant classification, inheritance-based filtering and more. The company expects early adopters of the software to be researchers in clinical labs running tests in areas such as oncology, inflammation, rare diseases, and obstetrics. There's also potential for uptake in areas such as obesity, diabetes, and cardiac disorders. Furthermore, according to Golden Helix, it could be useful for pharmacogenomics-based studies that aim to improve the safety, efficacy, and cost of treatments and care.
With VarSeq's launch, Golden Helix makes good on a promise it made last year to expand its life science research-centric business to include focused solutions for customers in the clinical genomics, pharmacogenomics, and diagnostics markets. At the time, CEO Andreas Scherer described the decision as a natural next step for the company, one that is consistent with its overall vision of providing tools that help scientists working in all facets of the translational genomics space extract meaning from microarray and NGS data. "For over 15 years, Golden Helix has provided tools for the research community to better understand the underlying mechanisms of disease," he said in a statement this week. Now, he added, it intends to provide similar capabilities for "clinicians, genetic counselors, and any other medical specialists in need of the best possible tools to consistently create reliable clinical diagnosis."
In the past, the Bozeman, Mont.-based firm has sold licenses to its SNP and Variation Suite (SVS) software, which is an integrated collection of analysis tools for managing, analyzing, and visualizing genomic and phenotypic data. Clients use the solution for genome-wide association studies, genomic prediction, copy number analysis, and DNA and RNA sequencing analysis. SVS is integrated with GenomeBrowse, Golden Helix's second product, which offers tools for visualizing and exploring data. Among other features, GenomeBrowse — which is also intertwined with the newly minted VarSeq — supports various file formats and gives users access to annotations from repositories such as ClinVar, the SNP database, and the 1000 Genomes project.
Together, these solutions are used by about 6,000 researchers in about 300 organizations worldwide in projects involving plant, animal, and human data, Scherer told BioInform. Existing customers include the Ontario Genomics Institute, where SVS is being used in human health and agricultural research projects. Some of those existing clients work in CLIA-certified clinical laboratories and began trying to use Golden Helix research-centric tools in those settings. That motivated the company to start getting acquainted with the regulatory requirements for clinical diagnostics and begin exploring ways to tailor its technology to fit the requirements of the space, he said.
The result is VarSeq which leverages the same underlying technology as Golden Helix's existing products but is designed for the diagnostic market. Now that the software is available, Scherer said that the company will move its customers who work in clinical testing laboratories over to the new solution. The company will also demonstrate the software's capabilities at the American Society of Human Genetics meeting in San Diego next month.
The company also believes that it has priced the software both affordably and competitively in a marketplace that will include solutions such as the one being developed by Qiagen Redwood City — formerly Ingenuity. Golden Helix is not publicizing its exact price point; however, Scherer did say that rather than charge customers based on the number of tests they run, the firm will charge a flat fee for a 12-month license to VarSeq and customers are free to use the solution as much or as little as they choose. As an incentive, early adopters who sign up to use the software before the end of the year will receive a 15-month license from the company — essentially a 25 percent discount off the standard cost for a 12-month license.
It's a business model and price point that Golden Helix hopes will contribute to driving down the current costs of genomics-based testing. According to Scherer, the firm made commercialization decisions about VarSeq keeping in mind that making this kind of testing routine hinges in part on doctors' ability to recoup test expenses and also on establishing a price point that's reasonable for payors. Offering cheaper analyses is one way "to lower the price point to make it available for everyone," he said.
Ultimately, VarSeq's launch is Golden Helix's first step in terms of its plans for the clinical market. "This is basically the starting point [of] a much brighter future," Scherer said. "We want to become a dominant player in the testing market." Meanwhile, the company will continue to develop and support its products for the research market.