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Golden Helix: Enabling Precision Medicine

We have named Golden Helix as one of our ‘10 Most Innovative Software Solutions of 2019’ for the company’s continued efforts to remain at the forefront of biotechnology solutions. Golden Helix has been a critical player in the biotech industry for over 20 years with deeply integrated software that provides essential automation capabilities for high-throughput testing environments. Golden Helix products’ support and streamline the clinical decision-making process in Next- Generation Sequencing (NGS). Throughout the past five years, they have built an industry-leading, end-toend bioinformatics pipeline capable of receiving data from a sequencer and support the analytic workflows to a finalized clinical report.
Today, more than 400 companies have implemented Golden Helix’s software, exceeding 10,000 individual users at hospital labs, testing labs, large research organizations, and government organizations from around the world.
A Complete, End-to-End Pipeline
The pipeline begins with their unique secondary analysis solution that can analyze genomic data regarding Single Nucleotide Polymorphisms (SNPs) mutations and Structural Variations. The solution also offers alignment and variant calling on par with GATK and MuTect2 at highly improved speed levels. Golden Helix has developed an industry-leading CNV detection solution that can detect CNV events from the exon level all the way to aberrations of an entire chromosome. Instead of performing additional tests with microarrays or MLPA, this CNV tool allows users can stay within the NGS paradigm. Golden Helix’s secondary pipeline gives a very comprehensive understanding of all the genetic variants present in a sample. Once users have identified these mutations, they are ready to perform the tertiary analysis. In this stage, Golden Helix focuses on the clinical interpretation of all the data which surfaced in the secondary analysis. With their VarSeq Suite, users can analyze variants with powerful filtering and annotating of genomic datasets.
Additionally, they can generate comprehensive, clinical-grade reports which are completely customizable and adhere to ACMG guidelines. The VarSeq Suite allows for the automation of the entire pipeline to increase throughput. This allows for a highly efficient review of the resulting data which not only saves time but also minimizes the potential for human error.
All of the information gathered in the secondary and tertiary analysis can be stored in Golden Helix’s genomic data warehouse, VSWarehouse. Primarily, the solution represents a knowledge base of all samples that have been processed by a lab. As new samples are processed, it is very straightforward to cross-check with previous work using VSWarehouse. Additionally, clinicians can simply and effectively re-analyze samples based on newly gained insights which is vital as the information in the industry is continuously evolving. VSWarehouse has a robust API that allows the clients to communicate with larger hospital systems and serves as an integration point to the lab and other hospital information systems.
Differentiating Themselves from the Competition
Golden Helix stands out in the marketplace with their unique business model – a very affordable, yearly license fee which allows customers to use the software as much as needed without any surcharges. This makes doing business with Golden Helix very straightforward with one predictable number and all training, support and new software included in the annual cost. Many of the other players in this space have adopted a per-sample model which usually does not work once a client begins using the solution, and the per-sample charges add up to high amounts. Golden Helix intends to drive down the price points for conducting a user’s services by making their solutions available in a very convenient, affordable way. This is very important in the precision medicine industry and the enablement of labs to perform analytics on NGS data. Golden Helix drives down price points.
Golden Helix can attribute their success for the past two decades on three pillars which remain the company’s primary focus today: innovation, quality, and customer satisfaction. In the last three years, Golden Helix has launched numerous products and will continue to do so. In 2018, the company was awarded a Phase II SBIR Grant from the NIH to further develop and refine proprietary algorithms for detecting CNVs and other structural variants from NGS data in a clinical content. They will also enhance artificial intelligence (AI) capabilities. While they already embed AI capabilities in their solutions, they will further strengthen capabilities for AI supported solutions while allowing customers to be in control of the diagnostic process.