New Data From CombiMatrix Study Support Follow-Up Diagnostic Testing to Confirm Positive Results From Non-Invasive Prenatal T...
October 09 2015 - 5:00AM
CombiMatrix Corporation (NASDAQ:CBMX), a molecular diagnostics
company specializing in DNA-based testing services for prenatal and
postnatal developmental disorders and pre-implantation genetic
screening services, announces the presentation of data supporting
the value of follow-up diagnostic testing to confirm or rule out
positive results for common chromosomal aneuploidies and
microdeletion syndromes detected by non-invasive prenatal testing
(NIPT). Data from the unpublished study conducted by CombiMatrix
were presented by Trilochan Sahoo, M.D., FACMG, CombiMatrix's Vice
President of Clinical Affairs and Director of Cytogenetics, in a
presentation late yesterday at the 2015 American Society of Human
Genetics (ASHG) conference underway in Baltimore.
"The use of NIPT to detect common fetal chromosomal
abnormalities is increasing, yet we found significant rates of
false positive test results after subsequent follow-up testing with
microarray and karyotyping," said Dr. Sahoo. "Importantly, in
addition to the well-documented high false positive rates for some
aneuploidies, our data show significant false positive rates for
microdeletions. These data suggest NIPT results that are positive
for an abnormality often turn out to be normal after a follow-up
diagnostic test such as those offered by CombiMatrix. Our ability
to expand upon the NIPT findings provides highly valuable
diagnostic information to patients and their families."
Common chromosomal aneuploidies include Down (trisomy 21),
Edwards (trisomy 18) and Patau (trisomy 13) syndromes. Chromosomal
microdeletions are associated with conditions such as intellectual
disability, seizures, autism spectrum disorder and neuropsychiatric
disorder, among others.
The unpublished CombiMatrix study, "Expanding non-invasive
prenatal testing to include microdeletions and segmental
aneuploidy: Cause for concern?," was performed by Dr. Sahoo and
evaluated outcome and concordance results of NIPT with invasive
diagnostic testing using both fetal karyotype and/or prenatal
microarray from 290 cases in women with both high- and low-risk
pregnancies. Highlights of the study's findings include:
- The overall true positive and false positive rates for NIPT
compared to diagnostic testing were estimated at approximately 70%
and 20%, respectively.
- The chromosome-specific true positive and false positive rates,
respectively, were 84% and 12% for Trisomy 21; 82% and 18% for
trisomy 18; 53% and 47% for trisomy 13; and 44% and 56% for X-Y
chromosome aneuploidies.
- For 25 cases predicted by NIPT to have a microdeletion or
duplication, the overall true positive and false positive rates
were 30% and 70%, respectively. The outcomes for false positive
rates were 71% for 22q11.2 deletion (DiGeorge syndrome); 75% for
1p36 deletion; and 83% for 5p deletion.
"Recently published findings suggest a cautious approach to the
interpretation of NIPT results based on the higher-than-previously
reported over-representation of the positive predictive value for
specific aneuploidies," said Mark McDonough, President and Chief
Executive Officer of CombiMatrix. "These new study data support
that it is absolutely essential to follow-up positive results from
NIPT with invasive prenatal diagnostic testing for both
aneuploidies and microdeletions to preclude errors in diagnosis.
The data suggest that a comprehensive approach in these
situations benefits the patient and that clinical decisions should
not be undertaken based purely upon NIPT results."
About ASHG 2015
ASHG 2015 provides a forum for the presentation and discussion
of cutting-edge science in all areas of human genetics: at invited
platform and poster sessions; on the trade show floor; and at
interactive workshops and events. The largest human genetics
meeting and expo worldwide, ASHG 2015 is expected to attract over
6,500 scientific attendees and over 200 exhibiting companies.
About CombiMatrix Corporation
CombiMatrix Corporation provides valuable molecular diagnostic
solutions and comprehensive clinical support to foster the highest
quality in patient care. CombiMatrix specializes in prenatal
diagnostics, miscarriage analysis for recurrent pregnancy loss,
pediatric genetics and pre-implantation genetic screening, offering
DNA-based testing for the detection of genetic abnormalities beyond
what can be identified through traditional methodologies.
CombiMatrix performs genetic testing utilizing a variety of
advanced cytogenomic techniques, including chromosomal microarray,
standardized and customized fluorescence in situ hybridization
(FISH) and high-resolution karyotyping. CombiMatrix is dedicated to
providing high-level clinical support for healthcare professionals
in order to help them incorporate the results of complex genetic
testing into patient-centered medical decision making. Additional
information about CombiMatrix is available at www.combimatrix.com
or by calling (800) 710-0624.
Safe Harbor Statement under the Private Securities
Litigation Reform Act of 1995
This press release contains forward-looking statements within
the meaning of the "safe harbor" provisions of the Private
Securities Litigation Reform Act of 1995. These statements are
based upon our current expectations, speak only as of the date
hereof and are subject to change. All statements, other than
statements of historical fact included in this press release, are
forward-looking statements. Forward-looking statements can often be
identified by words such as "anticipates," "expects," "intends,"
"plans," "goal," "predicts," "believes," "seeks," "estimates,"
"may," "will," "should," "would," "could," "potential," "continue,"
"ongoing," similar expressions, and variations or negatives of
these words and include, but are not limited to, statements
regarding projected results of operations and management's future
business, operational and strategic plans, recruiting efforts and
test menu expansion. These forward-looking statements are not
guarantees of future results and are subject to risks,
uncertainties and assumptions that could cause our actual results
to differ materially and adversely from those expressed in any
forward-looking statement. The risks and uncertainties referred to
above include, but are not limited to: whether follow-up diagnostic
testing is more reliable than NIPT; whether the CombiMatrix study
contains errors or could be contradicted or disproven by other
studies; our ability to successfully expand the base of our
customers and strategic partners, add to the menu of our diagnostic
tests, develop and introduce new tests and related reports, expand
and improve our current suite of services, optimize the
reimbursements received for our microarray testing services, and
increase operating margins by improving overall productivity and
expanding sales volumes; our ability to successfully accelerate
sales, steadily increase the size of our customer rosters in both
prenatal and developmental genetic testing markets; our
ability to attract and retain a qualified sales force in wider
geographies; our ability to ramp production from our sales force
and our strategic partners; rapid technological change in our
markets; changes in demand for our future services; legislative,
regulatory and competitive developments; the outcome of pending
litigation; general economic conditions; and various other factors.
Further information on potential factors that could affect our
financial results is included in our Annual Report on Form 10-K,
Quarterly Reports of Form 10-Q, and in other filings with
the Securities and Exchange Commission. We undertake no
obligation to revise or update publicly any forward-looking
statements for any reason, except as required by law.
CONTACT: Company Contact:
Mark McDonough
President & CEO, CombiMatrix Corporation
(949) 753-0624
Investor Contact:
LHA
Jody Cain
(310) 691-7100
jcain@lhai.com
Media Contact:
Russo Partners LLC
David Schull or Lena Evans
(212) 845-4271
david.schull@russopartnersllc.com
lena.evans@russopartnersllc.com
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