Golden Helix Releases Cancer Add-On To VSClinical

June 10, 2019

By Bio-IT World Staff

June 10, 2019 | Golden Helix has announced a cancer addition to their clinical analytics product, VSClinical. This new capability will guide clinicians through the clinical assessment of somatic variants, adding workflows modeled off the guidelines issued by the Association of Molecular Pathologists (AMP).

VSClinical launched last year, and enables hospitals and testing labs to conduct consistent, high-quality interpretations of NGS data, to increase lab throughput, and to provide a framework for newer, less experienced clinicians resulting in high quality clinical reports.

The initial launch focused on workflows for germline diseases modeled off the guidelines issued by the American College of Medical Genetics and Genomics (ACMG). The "cancer add-on" expands the tool to interpret somatic mutations according to AMP guidelines.

The new workflow covers the entire post-sequencing analytical workflow from FASTQ to clinical report for somatic variants, explains Andreas Scherer, President & CEO of Golden Helix.

The workflow:

  • Applies AMP Tiers to the available clinical evidence for Drug Sensitivity, Drug Response, Prognostics and Diagnostics,
  • Supports small mutations (SNPs, InDels) along with CNVs, fusions and wild-types as relevant biomarkers for the reporting of clinical evidence,
  • Develops a lab-specific knowledgebase of interpretations that allows maximum re-use of interpretations and descriptions from one patient to the next,
  • Leverages the built-in Golden Helix CancerKB interpretation knowledgebase that covers many common genes and biomarkers,
  • Score and classify inherited and not somatic variants in a patient using the ACMG guidelines and reports these as secondary germline findings,
  • Uses the Oncogenicity scoring system for evaluating the impact of variants in cancer, and
  • Lets users customize clinical report using Word to reflect the lab's preferences and branding.

Scherer says, "We reached a level of complexity in the available data, information, and knowledge where the manual development of a viable clinical report is extremely difficult. If not already, then very soon, software aided decision making will be the only viable option to deal with this complex matter."

This product was funded under grants R43GM128485-01, R43GM128485-02, 2R44GM125432-01, and 2R44GM125432-02. "Our special thanks go to the NIH for providing Golden Helix with exceptional funding to further develop our products," says Scherer.