Illumina is contributing more than 8,000 associations of somatic genetic alterations—variants linked to tumors—to the Clinical Interpretation of Variants in Cancer (CIViC) resource, an openly accessible database hosted by Washington University in St. Louis that can be used in precision medicine. Illumina’s donation triples the number of associations in the CIViC database, making Illumina the largest donor to this open access project.
“We are very excited and grateful to receive this substantial contribution from Illumina. The open-access model of CIViC was consciously chosen to allow for these kinds of submissions,” said Obi L. Griffith, Assistant Professor of Medicine at McDonnell Genome Institute at Washington University School of Medicine, St. Louis. “This genetic information represents a very valuable data set that is now available to researchers worldwide. CIViC's strategy is to break down information silos between academic and industry researchers. This donation shows that such a strategy can work.”
The donation includes information linked to cancer therapies and cancer subtyping to help clinical researchers identify relevant information associated with tumor variants gathered from publications and drug labels. The 8,000 associations cover more than 3,500 unique variants extracted from close to 700 scientific publications. It includes 74 drugs associated with 100 cancer types that have been collected over 5 years by a team of scientists. The standards employed for variant curation are similar to those recently published by the Association for Molecular Pathology (AMP), American Society of Clinical Oncology (ASCO), and College of American Pathologist (CAP).
The donated interpretations, with evidence linked directly to their peer-reviewed source publications, will help clinical research laboratories engage in precision oncology. These variant associations are available within BaseSpace Variant Interpreter (Beta), for use in aiding in interpreting the significance of individuals’ genetic variants. Illumina recently made a similar donation of 95,000 human genetic variants to ClinVar to assist with rare disease diagnosis.
Consistent with draft guidance documents released by the FDA on July 6, public genetic variant databases such as CIViC and ClinVar can play an important role in establishing the clinical validity of assertions made between variants detected by a next-generation sequencing-based test and a disease or condition.
“This extensive data set will expand our shared genomic knowledge and enable researchers to design personalized therapeutics which aids in advancing genomics into healthcare,” said Sanjay Chikarmane, Senior Vice President and General Manager at Illumina. “The donation to CIViC and ClinVar represents our commitment to help researchers access and share the secure health data information they need to transform healthcare.”