Golden Helix
Bioinformatics for Advanced Life Science Research

The ground-breaking next-generation sequencing (NGS) technology with its ultra-high throughput, speed, and data quality has revolutionized genomic and genetic research. A slew of factors is contributing to its soaring popularity. An increase in acceptance of utilization of NGS-based tests in the clinics and several disease treatment options and a decline in NGS capital requirements are among the many. However, these developments present a significant dilemma for the industry. The rapidly growing demand for NGS-based tests is expected to multiply the workload for clinical laboratories in the next four years. But the labor-intensive diagnostic process requires expertise and attention to detail, and there is already a shortage of specific knowledge in the NGS area. Perhaps, the only way to solve this dilemma is automation.

The Bozeman-based Golden Helix, with a commendable experience of over 20 years in offering industry-leading bioinformatics solutions, has the answer. The company has built an end-to-end bioinformatics pipeline designed to receive the raw sequencer output and take it to clinical reporting. “We have created automation capability for high throughput labs, as well as an extensive data warehousing capability that allows the capture and querying of the entire lab output,” says Andreas Scherer, President and CEO of Golden Helix.

The architecture provided by Golden Helix supports the thorough analysis of per-sample data coming out of next-generation sequencing machines to the genetic test report stage. Finally, all intermediate and final data is stored in a repository that allows integration to laboratory and hospital record systems through standard protocols and APIs.

“Our technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data products from next-gen sequencers and microarrays,” states Scherer.

In secondary DNA analysis, Golden Helix provides the unique ability to analyze genomic data in regards to single nucleotide variations and structural variations. Their product VS-CNV is capable of detecting CNV events starting at the exon level to aberrations of an entire chromosome.

On the tertiary analysis front, the company’s products VarSeq and VSClinical cover all clinically relevant workflows for the filtering and annotating of genomic data. VSWarehouse captures the artifacts of the bioinformatics pipeline and connects to other lab and hospital systems such as EPIC or Cerner’s Millennium Via powerful APIs.

“Our software stack is deeply integrated. This is a major advantage over any software architecture consisting of various disparate solutions of other vendors or homegrown applications,” states Scherer.

Golden Helix’s solution portfolio is built upon three pillars: innovation, quality, and customer satisfaction. The fact that its state-of-the-art solutions cater to thousands of users worldwide only highlights their distinct position in the industry and emphasis on customer service excellence. One among the many satisfied customers is the German-based MVZ Martinsried, a leading diagnostics company specialized in hereditary diseases such as inherited cancers. When their sample analysis volume expanded, it sparked the need for a more robust diagnostics pipeline and a solution that could accommodate different locations with a local installation. In the ensuing market evaluation, Golden Helix stood out as the first-choice provider, and its VarSeq Clinical Suite was promptly implemented. Resultantly, NGS gene testing and variant discovery became efficient, scalable, and accessible by converting NGS data output into customized clinical reports on time.

For the upcoming days, Golden Helix intends to add more features to its VSClinical AMP product and strengthen its capabilities regarding interpreting cancer-related diseases. Alongside fortifying its CNV capabilities, the company is also focused on deeply integrating its CNV capabilities into clinical interpretation and reporting workflows. “We have advanced capabilities to deploy our clinical stack in highly secure environments,” concludes Scherer.