CombiMatrix Study Published in Genetics in Medicine
February 01 2016 - 6:00AM
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 publication of data from a
CombiMatrix study supporting the value of follow-up diagnostic
testing to either confirm or rule out positive results for common
chromosomal aneuploidies and microdeletion syndromes detected by
non-invasive prenatal testing (NIPT).
The data from the study appeared in the
peer-reviewed Genetics in Medicine advance online publication (21
January 2016. doi:10.1038/gim.2015.196) submitted by Trilochan
Sahoo, M.D., FACMG, CombiMatrix’s Vice President of Clinical
Affairs and Director of Cytogenetics, in a letter to the editor
entitled, “Expanding non-invasive prenatal testing to include
microdeletions and segmental aneuploidy: cause for concern?” The
letter provides “important and substantial addition” to the
conclusion in a previously published article in Genetics in
Medicine, “Maternal cell-free DNA-based screening for fetal
microdeletion and the importance of careful diagnostic follow-up,”
Yatsenko SA, et. al.
“Our study supports the need for extreme caution
in the interpretation of NIPT due to higher-than-previously
reported false positive rates compared with invasive testing and
concern regarding the potential of over-representation of the
positive predictive value for specific aneuploidies and
microdeletions,” said Dr. Sahoo. Common chromosomal fetal
aneuploidies include Down (trisomy 21), Edwards (trisomy 18) and
Patau (trisomy 13) syndromes, and common microdeletion syndromes
are associated with conditions such as intellectual disability,
seizures, autism spectrum disorder and neuropsychiatric
disorder.
The CombiMatrix study included a review of the
results of chromosomal microarrays and/or karyotype analysis
following NIPT on 277 evaluable cases, showing a discordance
rate of 20% and partial discordance rate of 11%. The study
included 25 cases in which NIPT showed a microdeletion or
segmentation fetal aneuploidy. The conclusion drawn in the
Yatsenko, et. al, article was based on the observation of a single
microdeletion case.
“The most significant and recent observation
from our study showed a high rate of false positives for
microdeletions,” continued Dr. Sahoo. “This makes it
extremely prudent to take a much more cautious approach to
expanding NIPT for microdeletions with definitive testing such
that we offer at CombiMatrix.” Dr. Sahoo presented data from
this study at the American Society of Human Genetics in October
2015.
“Major providers of NIPT are expanding beyond
screening for common chromosomal fetal aneuploidies to common
microdeletion syndrome and the results of these tests can lead to
important decisions for women and their families,” said Mark
McDonough, President and Chief Executive Officer of CombiMatrix.
“We recommend extensive pretest genetic counseling with a
complete discussion of the benefits and limitations of screening
versus diagnostic testing. This is particularly important for
patients determined as low-risk for abnormalities in which
abnormalities are detected with NIPT and for patients considered
high-risk with normal NIPT results.”
Highlights of the 25 cases in which the
CombiMatrix study compared NIPT results indicating aneuploidy and
microdeletions with microarray and/or karyotyping results
included:
- Discordance in 5 out of 7 cases with deletion 22q11.21; 5 out
of 6 cases with deletion 5p; 3 out of 4 cases with deletion 1p36;
and 1 out of 1 case with deletion 4p.
- Concordance in 1 case each identifying 15q deletion, a 9p
duplication [confirmed to be an isodicentric (9p)] and a 13q
deletion.
- Partial concordance in single cases as follows:
- NIPT was suggestive of both 18p and 18q terminal deletions,
diagnostic testing revealed only a deletion of 14 Mb at
18p11.32p11.21.
- NIPT suggestive of trisomy 18q, diagnostic testing showed a
duplication of 18p11.21q23 that was further characterized to be a
translocation of the duplicated segment to the p-arm of one
chromosome 13, resulting in trisomy for the 18p11.21q23
segment.
- NIPT results indicated a “partial deletion of 21q,” diagnostic
testing revealed a duplication of 9.2 Mb at 21q11.2-q21.1 that was
inserted at 14p11.2.
- NIPT results were inconclusive for chromosome 13, microarray
testing showed a large region of allelic homozygosity for
chromosome 13.
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.
Company Contact:
Mark McDonough
President & CEO, CombiMatrix Corporation
(949) 753-0624
Investor Relations Contact:
LHA
Jody Cain
(310) 691-7100
jcain@lhai.com
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