We are at a time where genetic data is being generated at an astounding rate and propelling research into the universe of ‘Big Data.’ At the same time, this rapid increase in data creates a significant roadblock for many since the successful analysis of this data requires powerful statistical methods and software tools; as genetic data continues to increase, the need for sufficiently scalable computational tools become necessary. Golden Helix serves to solve this issue by providing the industry with cutting-edge genomic data analysis software, empowering the precise clinical decision-making and comprising the relationship between knowledge of preexisting pathological conditions, explicit patient information, and experiential learning.
20-Year Legacy of Offering Innovative Product to the Biotech Industry
Known as one of the critical and expert players in the biotech industry, Golden Helix’s journey started in 1998 by developing the SNP & Variation Suite used by research and government organizations to conduct GWAS, Genomic Prediction Analysis, as well as large-N case-control studies to research rare diseases, among other things. Throughout the next twenty years, Golden Helix obtained a deep understanding of the genomics space and created a robust technology stack to conduct advanced analytics on large genomic datasets.
Since 2013, the Golden Helix team, working under the experienced leadership of President and CEO – Andreas Scherer, Ph.D., has built an industry-leading end-to-end bioinformatics pipeline capable of receiving data from a sequencer and supports the analytics workflow to the completion of a finalized clinical report. Alongside this, they have created automation capabilities for high throughput labs, as well as an extensive data warehouse that can capture and query the entire lab output.
Secondary Analysis: Golden Helix provides a unique ability to analyze genomic data regarding Single Nucleotide Variations and Structural Variations. Via their partnership with Sentieon, they provide a highly performant secondary pipeline that includes alignment and variant calling on par with GATK and MuTect2 at much-improved speed levels. Their product, VS-CNV, is capable of detecting CNV events starting at the exon level to aberrations of an entire chromosome.
Tertiary Analysis: VarSeq, VSClinical, and VSReports cover all clinically relevant workflows for the filtering and annotating of genomic data in concordance with applicable guidelines such as ACMG & AMP. Golden Helix supports the analysis of gene panels, trios, single exome, and whole genomes. With a single click, users can generate a clinical report that integrates the specific findings with annotation sources. There are powerful customization options available to make the reports exactly how an organization requires them to be. Moreover, with VSPipeline, the company has developed the ability to automate the entire pipeline to increase throughput. Golden Helix clients can automate the process from FASTQ to Clinical Report, including the computation of CNVs. This allows a highly efficient review of the resulting data. This not only saves time, but it also minimizes the potential for human error.
Data Warehousing: VSWarehouse captures the artifacts of the bioinformatics pipeline. Via powerful APIs, the product connects to other lab and hospital systems such as EPIC or Cerner’s Millennium. Moreover, it allows users to answer the following questions efficiently:
- Have I seen this variant before in my clinical practice? If so, was it included in any clinical report?
- Has the categorization of any variant that I reported on changed (e.g., from ‘unknown’ to ‘pathogenic’)?
VSWarehouse allows users to version the clinical analysis conducted by lab work, including the annotation sources that have been used during the tertiary analysis. This is a crucial capability during discovery should a lab or hospital be involved in legal disputes.
Simplified Business Model with All-Inclusive and Affordable Yearly License Free
Today, most of the businesses have adopted a per-sample model which becomes complex when the customer starts using it. The per-sample charges continually add up, leading to higher, unpredictable costs; affordable solutions for labs performing NGS are essential in the precision medicine industry. Thus, Golden Helix has instilled simplicity in its business model. Their products are affordable and come with a yearly license fee without any additional intermittent charges. Additionally, the yearly fee includes all training, support, and updates required by the user. Golden Helix continually strives to shrink price points and makes its solutions available to users in a convenient, affordable way.
They have focused on three primary pillars – innovation, quality, and customer satisfaction. These three motivators have extensively helped the company to climb a never-ending success ladder. To date, the company has successfully served more than 450 companies, exceeding 20,000 individual users from hospital labs, testing labs, large research organizations, and government organizations across the world.
A Golden Path Towards Success
Last year, Golden Helix received a Phase II SBIR Grant from the NIH to further improve and refine proprietary algorithms for detecting CNVs and other structural variants from NGS data in the clinical context. Dr. Scherer said, In the last three years, Golden Helix has launched numerous products and will continue to do so. Likewise, we are on an expedition to embed AI capabilities to strengthen our capabilities for AI-supported solutions further while enabling customers to be in control of the diagnostic process.” Therefore, as one of the most experienced leaders in the biotech industry, Golden Helix is building a golden path towards a sustainable future with new products and features at an affordable cost.
