December 09, 2015 8:30am EST
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Study reveals new disease causing genes
MIAMI--(BUSINESS WIRE)--
OPKO Health, Inc. (NYSE:OPK) announced today through its subsidiary
GeneDx, results from a retrospective review of molecular diagnostic
testing by Whole Exome Sequencing (WES). The peer-reviewed study, “ Clinical
Application of Whole Exome Sequencing across Clinical Indications, ”
was published in the December 2015 issue of Genetics in Medicine. It
is the largest data set of its kind published to date and demonstrates
that WES is successful in providing a definitive diagnosis for patients
with rare and complex genetic conditions when parents or other affected
family members are included in the analysis.
GeneDx, a wholly-owned subsidiary of OPKO, reviewed 3,040 consecutive
WES cases over three years to better understand how WES could provide a
genetic diagnosis for signs and symptoms in an affected individual. Each
patient and his or her parents, when possible, were analyzed, which
significantly improved diagnostic yield, especially for genetic
disorders caused by a newly occurring ( de novo ) pathogenic
variant not present in either parent. By comparing molecular findings in
many patients with similar or overlapping presentations, GeneDx was able
to observe possible links between groups of patients and genes that,
until now, have not been known to cause human disease (‘candidate’
genes).
“Our research underscores the benefit of testing parents and
the patient; demonstrating that WES has the potential to identify
pathogenic variants in genes that would not typically have been tested
via targeted gene panels and which would have otherwise been missed,”
said Marc D. Grodman, M.D., CEO at BioReference Laboratories.
“Interrogating our large data set for clustering of pathogenic variants
with similar clinical presentations in ‘candidate’ genes allowed us to
successfully identify novel genes that cause rare genetic disorders.”
“Whole Exome sequencing is one of the most interesting technologies
available for the diagnosis of hereditary disease, and holds great
promise for providing information and potential management options for
patients and families dealing with complex genetic conditions," said
Sherri Bale, PhD, FACMG, co-founder and Managing Director of GeneDx.
About OPKO Health, Inc.
OPKO Health, Inc. is a diversified healthcare company that seeks to
establish industry-leading positions in large, rapidly growing markets.
Our diagnostics business includes Bio-Reference Laboratories, the
nation's third-largest clinical laboratory with a core genetic testing
business and a 420-person sales force to drive growth and leverage new
products, including the 4Kscore® prostate cancer test and the Claros®1
in-office immunoassay platform. Our pharmaceutical business features
Rayaldee™, a treatment for SHPT in stage 3-4 CKD patients with vitamin D
insufficiency (March 29, 2016 PDUFA date) and VARUBI™ for
chemotherapy-induced nausea and vomiting (oral formulation launched by
partner Tesaro, IV formulation in Phase 3). Our biologics business
includes hGH-CTP, a once-weekly human growth hormone injection (in Phase
3 and partnered with Pfizer), and a long-acting Factor VIIa drug for
hemophilia (entering Phase 2a). We also have production and distribution
assets worldwide, multiple strategic investments and an active business
development strategy. More information is available at www.opko.com .
About GeneDx
GeneDx and its parent company BioReference Laboratories Inc. are members
of the OPKO Health, Inc. (NYSE: OPK) group of companies. GeneDx is a
world leader in Genomics with an acknowledged expertise in rare and
ultra rare genetic disorders, as well as one of the broadest menus of
sequencing services available among commercial laboratories. GeneDx
performs more clinical Whole Exome Sequencing tests than any other
diagnostic lab in the world. The GeneDx mission is to make clinical
testing affordable and available to people with rare genetic conditions
and their families. GeneDx provides testing to patients and their
families in more than 55 countries. To learn more, please visit www.genedx.com .
This press release contains "forward-looking statements," as that term
is defined under the Private Securities Litigation Reform Act of 1995
(PSLRA), which statements may be identified by words such as "expects,"
"plans," "projects," "will," "may," "anticipates," "believes," "should,"
"intends," "estimates," and other words of similar meaning, including
statements regarding expected benefits of WES and the ability to provide
a definitive diagnosis for patients with rare and complex genetic
conditions, our ability to successfully identify novel disease genes
that cause rare genetic disorders, expectations about the uses of WES,
as well as other non-historical statements about our expectations,
beliefs or intentions regarding our business, technologies and products,
financial condition, strategies or prospects. Many factors could cause
our actual activities or results to differ materially from the
activities and results anticipated in forward-looking statements. These
factors include those described in our filings with the Securities and
Exchange Commission, as well as the risks inherent in funding,
developing and obtaining regulatory approvals of new,
commercially-viable and competitive products and treatments. In
addition, forward-looking statements may also be adversely affected by
general market factors, competitive product development, product
availability, federal and state regulations and legislation, the
regulatory process for new products and indications, manufacturing
issues that may arise, patent positions and litigation, among other
factors. The forward-looking statements contained in this press release
speak only as of the date the statements were made, and we do not
undertake any obligation to update forward-looking statements. We intend
that all forward-looking statements be subject to the safe-harbor
provisions of the PSLRA.
View source version on businesswire.com: http://www.businesswire.com/news/home/20151209005235/en/
OPKO Health, Inc.
Tara Mackay, 305-575-4100
Investor Relations
or
Media
Rooney
& Associates
Terry Rooney, 212-223-0689
or
Marion
Janic, 212-223-4017
or
Investors
LHA
Anne
Marie Fields, 212-838-3777
or
Bruce
Voss, 310-691-7100
Source: OPKO Health, Inc.
Released December 9, 2015
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