Illumina, Inc. has contributed over 95,000 human genetic variants to ClinVar, a public database hosted by the National Center for Biotechnology Information (NCBI). Illumina's contribution includes variants of all classifications, from pathogenic to benign, identified during interpretation of whole genome sequences generated in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.

ClinVar provides an openly accessible public database of the relationships between medically important variants and phenotypes. It enables genetic testing laboratories to access a broad set of clinical interpretations and data that can be incorporated into their analyses. ClinVar is also available to individual users and organizations that want to incorporate the information into their applications. These important scientific data help to identify when laboratories are interpreting the same variant in different ways, improving the quality of variant interpretations, and accelerating clinicians' understanding of the effects of these variants.

"There is enormous value in sharing curated human genetic variants in the public domain," said Heidi Rehm, Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine. "Illumina's generous contribution is a great endorsement of data sharing and of the ClinVar database. We hope that others who have not yet contributed will be encouraged to donate so that the wealth of knowledge in ClinVar continues to grow and provide benefit to many more patients who depend on the precision of genomic medicine."

On July 6, the Food and Drug Administration (FDA) released a draft guidance document, Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing Based In Vitro Diagnostics, which encourages "the deposition of variant information in such databases, reducing regulatory burden on test developers, and spur advancements in the interpretation and implementation of precision medicine."

As stated in the guidance document, the FDA believes that the aggregation, curation and interpretation of clinical genotype-phenotype associations in genetic variant databases could support the clinical validity of claims made about a variant detected by a next-generation sequencing-based test and a disease or condition.

"The accurate interpretation of genetic testing results is crucial to translating genomics into healthcare, and benefits enormously from high quality public resources that reflect current knowledge of genetic variants," said David Bentley, vice president and chief scientist at Illumina. "We are delighted to have the opportunity to make this contribution of curated variants to ClinVar, and to support the program in improving the accuracy of shared genomic knowledge."