Illumina Contributes to ClinVar Database

Advocates the Advancement and Understanding of Genomics in Health and

SAN DIEGO–(BUSINESS WIRE)–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On July 6, the Food and Drug Administration (FDA) released a draft
guidance document, Use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 and
follow @illumina.


Illumina, Inc.
Rebecca Chambers,
Amirkiai, 858-882-6822