SQNM Opened with a good UG after the news on its screening test for Down Syndrome.
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Sequenom Announces Results of Screening Studies for Down Syndrome and Updates Development of Noninvasive Prenatal Diagnostics at Analyst and Investor Briefing
Wednesday June 4, 4:00 am ET
SAN DIEGO--(BUSINESS WIRE)--Sequenom, Inc. (NASDAQ:SQNM - News), a leading provider of genetic-analysis solutions, announced positive results from screening studies using the Company’s noninvasive circulating cell-free fetal (ccff) nucleic acid SEQureDx™ Technology, which enables the detection of fetal aneuploidy, including Down syndrome from maternal blood.
At its analyst-and-investor briefing “The Future of Noninvasive Prenatal Diagnostics” held at the International Society of Prenatal Diagnostics (ISPD) conference in Vancouver, Canada, executives were joined by a panel of leading scientists and clinicians to discuss study results and updates in the development of noninvasive prenatal diagnostics.
The Company reported that in blinded studies performed at Sequenom involving approximately 200 clinical samples collected both prospectively and retrospectively, its proprietary test for Down syndrome correctly identified 100% of all Down syndrome samples (i.e. sensitivity or detection rate), without any false-positive outcomes (i.e. specificity).
Population coverage for the T21 test improved to at least 93% of the U.S. population. With currently available serum-testing options having detection rates between 70% to 90% and false-positive rates as high as 5%, SEQureDx Technology shows promise for significant performance advantages over the current paradigms for prenatal screening.
The Company expects to continue its development activities through the end of 2008, at which time the Company will initiate transfer of the technology to laboratory partners. The Company plans to initiate a multi-site validation study consisting of several thousand samples in the fourth quarter this year and launch its Down syndrome test as a Laboratory Developed Test (LDT) in the U.S. in the first half 2009.
“We are very pleased to be reporting substantial progress toward commercializing an important test to screen for Down syndrome that can be administered as early as late in the first trimester through a simple blood draw from the mother,” said Harry Stylli, Ph.D., Sequenom’s President and Chief Executive Officer.
“Data from our blinded screening study for the detection of fetal aneuploidy indicate that the current version of our test has identified all Down syndrome samples without any false-positive outcomes. Also our coverage has improved to at least 93% of the U.S. population. Although these results require further validation in larger studies, such results using SEQureDxTM Technology can potentially transform current clinical practice for Down syndrome-risk assessment.”
The studies conducted both prospectively and retrospectively, involved approximately 200 samples in both normal and high-risk patients.
The blinded-prospective study involved 180 samples comprising 130 low-risk and 50 high-risk samples. The test correctly identified three Down syndrome samples without any false-positive outcomes. Of the 21 blinded samples analyzed retrospectively, the test correctly identified seven Down syndrome samples while also indicating no false-positive results.
“A direct, noninvasive genetic assessment of fetal Down syndrome will result in far-better screening accuracy and would dramatically reduce the number of unnecessary, invasive diagnostic procedures that women undergo in current maternal serum-screening protocols.
Improved detection rates, as reported by Sequenom in its assay optimization studies, exceed those with currently available screening models,” said Allan T. Bombard, M.D., a reproductive geneticist with more than two decades of experience in the field of prenatal screening and diagnosis. (Dr. Bombard serves as a Chief Medical Director at Sharp Mary Birch Hospital and is the Principal Investigator of the study.) “Moreover, having minimum false-positive results will significantly reduce the number of unnecessary confirmatory diagnostic tests, as well as the anxiety and complications associated with invasive procedures.”
Currently available tests conducted during the first or second trimester of pregnancy use epigenetic markers associated with the Down syndrome phenotype that are characterized as “surrogate” markers as they are not directly related to the extra Number 21 chromosome.
Different combinations of markers, measured at different times in pregnancy, constitute the multiple-marker approach to screening. These tests have detection rates of 70% to 90% with approximately a 5% false-positive rate, while also having inconsistent population coverage or ethnicity rates.
The SEQureDx test uses a maternal blood sample drawn as early as the first trimester and identifies directly the extra Number 21 chromosome. Invasive procedures such as amniocentesis or chorionic villus sampling (CVS) carry risk of miscarriage and other risks to mother and fetus.
“Current screening methods, using multiple ‘surrogate’ markers, are very good, but are unlikely to reach diagnostic potential,” said Jacob Canick, Ph.D., Professor of Pathology and Laboratory Medicine at Brown University Medical School.
“In contrast, I am optimistic that tests using multiple-fetal RNA and DNA markers can be developed not only for Down syndrome, but for all clinically important aneuploidies, and it is reasonable to expect that such direct, noninvasive diagnostics could be done in the first trimester of pregnancy.”
Sequenom’s analyst-and-investor-briefing event speakers included Alan Bombard, M.D., Chief Medical Officer at Sharp Mary Birch Hospital, who discussed current clinical practices for Down syndrome screening and diagnosis; Jacob Canick, Ph.D., Professor of Pathology and Laboratory Medicine at Brown University Medical School, who discussed methods for screening pregnancies for Down syndrome; Professor Dennis Lo, consultant to Sequenom and a leading researcher in prenatal diagnostics, who discussed the future of prenatal diagnosis; and Sequenom’s Senior Vice President of Research and Development Elizabeth Dragon, Ph.D., who reviewed progress with Sequenom’s SEQureDx Technology in developing a test for Down syndrome. A webcast of the event is available on the Company Web site at www.sequenom.com.
Sequenom’s Proprietary Noninvasive Prenatal Diagnostics
Sequenom’s commercial opportunities in prenatal diagnostics are built upon its SEQureDx technologies and are enabled by the pioneering inventions and associated intellectual property rights that it has exclusively licensed from Isis Innovation Ltd., the technology transfer company of the University of Oxford, as well as The Chinese University of Hong Kong.
Sequenom’s portfolio of noninvasive prenatal diagnostic patent rights and patent applications is platform-independent, includes genetic-analysis methods using circulating cell-free fetal nucleic acids from maternal serum, plasma or whole blood, and also includes a portfolio of methylation and nucleic-acid markers.
Sequenom holds exclusive rights in territories including the United States, Europe, Australia, Canada, Japan and Hong Kong. Sequenom is actively expanding its intellectual property position with new technology and new territories.
Because Sequenom’s license rights are platform-independent, the rights provide exclusivity (with the narrow exception in Europe for RT-PCR-based Rhesus D tests) for development and commercialization of noninvasive prenatal screens and tests on any platform and are not limited to the Company’s MassARRAY platform.
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