The first two supported applications for the bioinformatics platform are in oncology, for somatic and hereditary cancer testing. The platform is an evidence-based decision support tool that evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels and clinical trials. Clinicians can use the platform to rapidly classify variants, identify treatment options and perform geographical clinical trial matching. The tool also provides access to the Allele Frequency Community, the world’s largest repository of ancestral and ethnic diversity data.
Company spokesman Colin Sanford told Outsourcing-Pharma.com that the tool “was designed, developed and validated in collaboration with clinical testing labs to demonstrate that enabled clinical labs could cost effectively scale the analysis, interpretation and reporting of their test offerings.”
One of the clinical collaborators in evaluating QCI (Qiagen Clinical Insight), Gregory Tsongalis, Director of the Molecular Pathology and Translational Research Program at the Dartmouth-Hitchcock Medical Center, added: “Getting from raw sequencing data to accurate and timely curation of clinically actionable variants and reporting in a user friendly format for our ordering physicians continues to be a significant challenge for complex molecular testing.”
Tsongalis worked in collaboration with Qiagen on the development and validation of the platform in support of somatic cancer testing, which he said “has resulted in scalable and reproducible results in addressing our labs unmet bioinformatics needs and challenges.”
For germline testing, QCI “enables labs to scale the annotation, classification (i.e., biological significance) and reporting of germline variants and for somatic cancer testing QCI does the same and enables labs to identify treatment and trial options for their ordering physicians based upon available levels of evidence,” Sanford told us.
And for clinical trials, he noted that just 5% to 7% of cancer patients that may be eligible for clinical trials enroll in trials and QCI is designed to assist clinical labs in helping ordering physicians to improve patient-to-trial match rates where the patients may benefit from a trial.
“In creating this platform, we gathered input from more than 100 clinical testing labs and worked with 50 of them to evaluate the QCI content and software in their workflows for laboratory-developed tests,” said Laura Furmanski, Head of Qiagen’s Bioinformatics Business Area. “The commercial rollout of QCI is the latest addition to Qiagen’s portfolio of Sample to Insight solutions, including universal sample and assay consumables and a range of resources for bioinformatics that are driving the growth of next-generation sequencing for clinical research and diagnostic labs.”
And as far as how QCI matches up with other market competition, Sanford told us: “There are a growing number of products available in the market - but few if any are as scalable and extensible as the new QIAGEN platform, few that were developed from the ground up in collaboration with clinical labs, few that support both somatic and germline testing and few that support exome and genome level applications beyond routine panel testing - and few if any that can support all of the above."