SAN DIEGO, Sept. 22, 2014 /PRNewswire/ -- Sequenom,
Inc. (NASDAQ: SQNM), a life sciences company providing innovative
genetic analysis solutions, today announced that its wholly owned
subsidiary, Sequenom Laboratories, presented patient clinical data
substantiating the performance of its MaterniT21®
PLUS noninvasive prenatal test (NIPT) in the laboratory. An ad
hoc analysis of 185,000 samples from patients at high-risk for
fetal chromosome aneuploidy demonstrated stable positivity rates
for trisomy 21, 18 and 13, which mirror the positivity rates found
in large studies on high-risk populations utilizing invasive
diagnostic procedures. Additionally, Sequenom Laboratories reported
performance results from clinical testing with the MaterniT21 PLUS
test with Enhanced Sequencing Series. These data were presented at
the 33rd National Society of Genetic Counselors Annual
Educational Conference (NSGC AEC) in New
Orleans, Louisiana, which took place September 17-20, 2014.
In the ad hoc analysis based on voluntary outcomes
provided by clinicians, the estimated sensitivity for trisomy 21,
18 and 13 were 99.3%, 98.3% and 97.4% respectively, and the
estimated specificity was >99.9% for all three trisomies. These
clinical laboratory performance data are equivalent to those
published in the clinical validation studies of the MaterniT21
test. Based on these performance metrics, Sequenom Laboratories
estimates that the MaterniT21 PLUS test positive predictive value
(PPV) for trisomy 21, 18 and 13 were 99.0%, 97.6% and 92.8%
respectively, and the negative predictive value (NPV) was >99.9%
for all three trisomies.
"PPV and NPV are valuable performance measurements for genetic
counselors and clinicians when interpreting the significance of a
NIPT result," said Lauren Korty, MS.
LCGC, University of California, San
Diego Health System. "This information must be interpreted
along with the relevant clinical information, especially in the
event of a positive result, when counseling the patient and
determining the most appropriate next steps in managing the
pregnancy."
Sequenom Laboratories also presented the results from more than
120,000 patient samples tested for clinically relevant
microdeletions between October 2013
and July 2014, which were reported as
additional findings as part of the MaterniT21 PLUS test with
Enhanced Sequencing Series. The presentation showed data for
the first 100 positive cases that were reported out to clinicians.
Included were cases of 22q deletion (DiGeorge syndrome), 5p
deletion (Cri-du-chat syndrome), 15q deletion
(Prader-Willi/Angelman syndromes), 1p deletion (1p36), as well as
two additional trisomies (trisomy 16 and 22). The MaterniT21 PLUS
test demonstrated a low false positive rate (FPR) for the reported
microdeletions (estimated combined FPR < 0.03%) and high
positive predictive values (estimated combined PPV ranged from 62%
to 94%). Additionally, positive call rates were consistent with
expected outcomes based on the incidence of these conditions.
"We are pleased with the clinical experience and feedback we
have received for the first 120,000 samples reported in the
MaterniT21 PLUS test with Enhanced Sequencing Series," said
Dirk van den Boom, PhD, Chief
Scientific and Strategy Officer at Sequenom, Inc. "The high
accuracy of the test allows physicians and their patients to obtain
important information not only for trisomies but also for these
clinically relevant but much rarer conditions."
Sequenom Laboratories Sponsored CEU-Educational Session at
NSGC
- Noninvasive prenatal testing for microdeletions: one year
later. Nicole Teed, MS,CGC,
Sequenom; Heather Marin, MS, LSGC,
The Center for Prenatal Diagnosis at St. Vincent Women's Hospital,
Indianapolis, IN; Lauren Korty, MS LCGC, UCSD Health System,
San Diego, CA
Sequenom Laboratories Presentations at NSGC
- Clinical experience of microdeletion and expanded trisomy
detection by noninvasive prenatal testing (NIPT). Jenna Wardrop.
- Performance of noninvasive prenatal testing (NIPT) aneuploidy
at different fetal fractions. Ron
McCullough, PhD.
Sequenom Laboratories Scientific Posters at NSGC
- Disomic placentas, trisomic babies: Reverse mosiacism and
implications for noninvasive prenatal testing (NIPT).
- Clinical experience reporting trisomy 16 and 22 on noninvasive
prenatal testing (NIPT): Test performance and implications for
genetic counseling.
- Application of risk-score analysis to low-coverage whole genome
sequencing data for the noninvasive detection of trisomy-21 and
trisomy-18.
- Detection of maternal 22q deletions by noninvasive prenatal
testing (NIPT)
- Scientific explanation: When the "false positive" noninvasive
prenatal testing (NIPT) result is not false.
- 250,000 cases and counting – the high volume clinical
experience with noninvasive prenatal testing (NIPT).
About Sequenom
Sequenom, Inc. (NASDAQ: SQNM) is a life
sciences company committed to improving health care through
revolutionary genomic and genetic analysis solutions. Sequenom
develops innovative technologies, products, and diagnostic tests
that target and serve molecular diagnostic markets. Web site:
www.sequenom.com
About Sequenom Laboratories
Sequenom Laboratories, a
CAP-accredited and CLIA-certified molecular diagnostics laboratory,
has developed a broad range of laboratory tests, with a focus on
prenatal and ophthalmological diseases and conditions. Branded
under the names HerediT™, MaterniT21® PLUS, RetnaGene™,
SensiGene® and VisibiliT™, these molecular genetic
laboratory-developed tests provide early patient-management
information for obstetricians, geneticists, maternal fetal medicine
specialists, and ophthalmologists. Sequenom Laboratories is
changing the landscape in genetic-disorder diagnostics using
proprietary cutting-edge technologies.
SEQUENOM®, HerediT™, MaterniT21® PLUS, RetnaGene™,
SensiGene®, and VisibiliT™ are trademarks of Sequenom,
Inc. All other trademarks and service marks are the property of
their respective owners.
Forward-Looking Statement
Except for the historical information contained herein, the
matters set forth in this press release, including statements
regarding the benefits of Sequenom Laboratories' MaterniT21 PLUS
test, including the validation of their specificity and
sensitivity, Sequenom's ability to offer accurate, comprehensive
prenatal information, Sequenom's ability to expand the offering of
the MaterniT21 PLUS test, and Sequenom's commitment to improving
health care through revolutionary genomic and genetic analysis
solutions are forward-looking statements within the meaning of the
"safe harbor" provisions of the Private Securities Litigation
Reform Act of 1995. These forward-looking statements are subject to
risks and uncertainties that may cause actual results to differ
materially, including the risks and uncertainties associated with
the performance of the MaterniT21 PLUS test, market demand for and
acceptance and use of technology and tests such as the MaterniT21
PLUS test, reliance upon the collaborative efforts of other parties
and licensees, healthcare providers and others, Sequenom or third
parties obtaining or maintaining regulatory approvals that impact
Sequenom's business, government regulation particularly with
respect to diagnostic products and laboratory developed tests,
publication processes, the performance of designed product
enhancements, Sequenom's ability to develop and commercialize
technologies and products, particularly new technologies such as
noninvasive prenatal diagnostics and laboratory developed tests,
Sequenom's financial position, the timing and amount of
reimbursement that Sequenom Laboratories receives from payors for
its laboratory developed tests, Sequenom's ability to manage its
existing cash resources or raise additional cash resources,
competition, intellectual property protection and intellectual
property rights of others, litigation involving Sequenom, and other
risks detailed from time to time in Sequenom's most recently filed
reports on Form 8-K, its most recently filed Quarterly Report on
Form 10-Q and its Annual Report on Form 10-K for the year ended
December 31, 2013, and other
documents subsequently filed with or furnished to the Securities
and Exchange Commission. These forward-looking statements are based
on current information that may change and you are cautioned not to
place undue reliance on these forward-looking statements, which
speak only as of the date of this press release. All
forward-looking statements are qualified in their entirety by this
cautionary statement, and Sequenom undertakes no obligation to
revise or update any forward-looking statement to reflect events or
circumstances after the issuance of this press release.
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SOURCE Sequenom, Inc.