Andreas Scherer, President & CEO
Next-Generation Sequencing (NGS) is driving Precision Medicine in the therapeutic areas such as oncology, pediatrics and newborn screening, and rare diseases. NGS is a key paradigm in conducting genetic tests, which helps to determine DNA variations. Consequently, it allows labs to explore the underlying genetic factors resulting in diseases or specific phenotypic traits. Pioneering NGS for over two decades is the Montana-based biotechnology software company, Golden Helix, Inc. The company enables clinical labs to manage and analyze massive amounts of genetic testing data produced by NGS and define the course of care. Golden Helix has developed an end-to-end bioinformatics pipeline that processes the data from sequencers and generates the clinical reports. Andreas Scherer, President and CEO at Golden Helix puts it simply, “From FASTQ to clinical reporting, Golden Helix simplifies the complete data lifecycle that includes data processing, enrichment, clinical analysis and storage.” Utilizing Golden Helix’s solutions, clinical labs can ace all processes within genetic testing that range from assessing the complete spectrum of genomic variation present in a given sample to performing the tertiary analysis.
Golden Helix software enables their clients to analyze sample data drawn from the sequencer. Besides the ability to detect single nucleotide variations, which is standard in this field, its solution VS-CNV detects copy number variations (CNVs), which are repetitions of entire genomic sections, in NGS data sets. Clinicians can ascertain multiple metrics from samples along with matched controls to make accurate CNV calls. VS-CNV’s calling algorithm can operate on existing clinical NGS gene panel, exome, and whole genome NGS data. After analyzing the information, the solution generates Variant Call Formats files (VCFs) that are forwarded VarSeq, a solution for tertiary analysis.
Easy to integrate, VarSeq not only automates workflows but also analyzes variants for gene panels, exomes, and whole genomes.
From FASTQ to clinical reporting, Golden Helix simplifies the complete data lifecycle that includes data processing, data enrichment, clinical interpretation and storage
Clinicians can inspect alignments, prioritize variants, and expedite clinical assessment using VarSeq. While selecting variants for the further study, they can save the state of filters so that the analysis can be applied to another set of information. As the solution is inclusive of VSPipeline and VSReports, streamlining clinical processes becomes an easier task. While VSPipeline creates high throughput pipelines, VSReports converts the output of tertiary analysis into a customized clinical report.
From bits of information to entire reports, the users can easily refer the data that resides in the data warehouse. “The data warehouse is the powerful database where data is stored to be used in the pipeline,” adds Scherer. The database registers every bit of information generated in the lab and serves as reference data going forward. With the web-enabled interface and powerful APIs, the data warehouse is interoperable and enables Golden Helix customers to comply with HIPAA, CLIA, and CAP.
Through innovative products, Golden Helix has been simplifying the clinical workflows and genomic testing for numerous labs. For instance, Prevention Genetics, a clinical testing laboratory offering genetic and DNA banking services with the largest menu of gene sequencing tests, sought a solution for analysis of gene panels. The deployment of Golden Helix’s VS-CNV not only helped the client in exceeding chromosomal microarrays with the highest probe density but also streamlining the process of annotating and filtering variants obtained from next-generation sequencing pipeline. Eventually, Prevention Genetics succeeded in optimizing clinical testing.
As clinical labs have to adhere to a slew of federal guidelines, Golden Helix provides additional support to enable them in operating within the regulatory framework. As the firm strives to increase its footprint in the global NGS market, it has set on a mission to make Precision Medicine simpler and more streamlined.