Illumina Contributes to ClinVar Database
October 20 2016 - 9:00AM
Business Wire
Advocates the Advancement and Understanding of
Genomics in Health and Disease
Illumina, Inc. (NASDAQ: ILMN) announced today that it 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a draft guidance document, Use of Public Human Genetic Variant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.”
About Illumina
Illumina is improving human health by unlocking the power of the
genome. Our focus on innovation has established us as the global
leader in DNA sequencing and array-based technologies, serving
customers in the research, clinical and applied markets. Our
products are used for applications in the life sciences, oncology,
reproductive health, agriculture and other emerging segments. To
learn more, visit www.illumina.com and follow
@illumina.
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