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Natera, Inc. (NASDAQ: NTRA), a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, today announced the publication of a large clinical experience study evaluating the performance of the company’s Panorama® non-invasive prenatal test (NIPT).
The study, published in Clinical Genetics, retrospectively analyzed the performance of the single-nucleotide polymorphism (SNP)-based NIPT in 80,449 referrals for 22q11.2 deletion syndrome and 42,326 referrals for 1p36, cri-du-chat, Prader-Willi, and Angelman microdeletion syndromes over a one-year period. Microdeletions are tiny missing pieces of DNA at the sub-chromosomal level that can have serious health implications. The original Panorama screening protocol was compared with an enhanced protocol aimed at fewer false positive calls. The prevalence of the microdeletion syndromes also was estimated in the referral population.
“This study reflects Natera’s ongoing commitment to advancing the science and technology of genetic testing in the prenatal setting,” said Kimberly Martin, M.D., Senior Medical Director of Natera and lead author on the study. “This large, population-based cohort study establishes that these important microdeletions are relatively common, and the superior performance of a SNP-based NIPT has been further improved by the revised protocol aimed at fewer false positives. The positive predictive values and low false positive rates achieved in this study build upon previous clinical research that supports the use of Panorama as a first-line screen in the general population.”
With the revised protocol, the positive predictive values increased to 44.2% for 22q11.2 deletion syndrome and 31.7% for the other four disorders combined. The false positive rate for 22q11.2 deletion syndrome decreased to 0.07% with the revised protocol. Similarly, the false positive rate for the other four disorders combined decreased to 0.07%.
The prevalence in the referral population was estimated to be 1 in 1,255 for 22q11.2 deletion syndrome and 1 in 1,464 for 1p36, cri-du-chat, and Angelman microdeletion syndromes combined. The combined estimated prevalence for all five disorders was 1 in 676.
Peter Benn, Ph.D., Professor of Genetics and Genome Sciences and Director of the Diagnostic Human Genetics Laboratories at the University of Connecticut Health Center, and an author on the study, said, “Not only does this SNP-based NIPT allow us to screen for whole chromosome imbalances more effectively than was previously possible, but it also allows us to now screen for additional clinically important disorders. This is a major advance in prenatal screening. Women with high-risk pregnancies can be referred for full diagnostic testing. Early diagnosis can facilitate delivery and treatment at a tertiary care center, and can help reduce morbidity.”
Unlike Down syndrome, the risk for microdeletions is not age dependent; for women under 28 years of age, the combined incidence of the five microdeletions that Natera screens for (~1/1,000) is higher than that for Down syndrome. Early diagnosis of 22q11.2 deletion syndrome has important clinical implications, such as administering neonatal calcium in cases of hypocalcemia to reduce the risk of intellectual decline and cardiac surgery to correct congenital heart defects.
The study, titled “Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant Microdeletions,” can be accessed here.
Natera is a genetic testing company that develops and commercializes non-invasive methods for analyzing DNA. The mission of the company is to transform the diagnosis and management of genetic disease. Natera operates a CAP-accredited laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, Calif., and it offers a host of proprietary genetic testing services primarily to OB/GYN physicians and fertility centers, as well as to genetic laboratories through its cloud-based Constellation™ software platform.
Product offerings include the Spectrum® pre-implantation genetic test for embryo selection during IVF; the Anora® miscarriage test to understand the genetic causes of a pregnancy loss; the Horizon™ carrier screen to detect inherited mutations; the Panorama® non-invasive prenatal test (NIPT) to screen for common chromosomal anomalies in a fetus as early as nine weeks of gestation; and Evercord™, a cord blood and tissue banking service offered at birth to expectant parents.
Each test described has been developed and its performance characteristics determined by the CLIA-certified laboratory performing the test. These tests have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although FDA does not currently clear or approve laboratory-developed tests in the U.S., certification of the laboratory is required under CLIA to ensure the quality and validity of the tests.
Natera is also applying its unique technologies to develop non-invasive screening and diagnostic tools for earlier detection and improved treatment of cancer. These tests have not been cleared or approved by the FDA.
This release contains forward-looking statements. All statements other than statements of historical facts contained in this press release are forward-looking statements. Any forward-looking statements contained in this press release are based upon Natera's historical performance and its current plans, estimates, and expectations, and are not a representation that such plans, estimates, or expectations will be achieved. These forward-looking statements represent Natera's expectations as of the date of this press release.
Subsequent events may cause these expectations to change, and Natera disclaims any obligation to update the forward-looking statements for any reason after the date of this press release. These forward-looking statements are subject to a number of known and unknown risks and uncertainties that may cause actual results to differ materially, including with respect to our efforts to develop and commercialize new product offerings, our ability to successfully increase demand for and grow revenues for our product offerings, whether the results of clinical studies will support the use of our product offerings, our expectations of the reliability, accuracy and performance of our screening tests, or of the benefits of our screening tests and product offerings to patients, providers and payers.
Additional risks and uncertainties are discussed in greater detail in the sections entitled "Risk Factors" and "Management's Discussion and Analysis of Financial Condition and Results of Operations" in Natera's Form 10-Q for the quarter ended March 31, 2017. Further information on potential risks that could affect actual results will be included in other filings Natera makes with the SEC from time to time. These documents are available for free on the company's website at www.natera.com under the Investor Relations section, and on the SEC's website at www.sec.gov.
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