Clinical evidence supports screening for 22q.11.2 in the general population
SAN CARLOS, Calif., Jan. 12, 2016 /PRNewswire/ — Natera, Inc., (NASDAQ: NTRA), a leader in non-invasive genetic testing and analysis of circulating cell-free DNA, today announced the publication of the first major clinical-experience study, which covers the first six months of experience screening for 22q11.2 microdeletion syndrome using the Panorama non-invasive prenatal test (NIPT). The study by Gross, et al. published in Ultrasound in Obstetrics and Gynecology, which evaluated more than 20,000 patients, reported a positive predictive value of 18% and false positive rate of 0.38%. Reflex sequencing all high-risk samples reduced the false positive rate from 0.38% to 0.12%, and increased the positive predictive value (PPV) to 42.3%. Reflex testing of high risk cases for 22q11.2 deletion syndrome at a higher depth of read will be implemented for Panorama clinical cases later this year.
Microdeletions, which are tiny missing pieces of DNA at the sub-chromosomal level, can have serious health implications. Unlike Down syndrome, for which risk increases with maternal age, microdeletions carry equal risk at all maternal ages. After Down syndrome, 22q11.2 deletion syndrome is the second most common cause of congenital heart disease and of developmental delay. Owing to their much smaller size, microdeletions are much harder to detect than aneuploidy. Natera's targeted, SNP-based methodology overcomes this issue. More than seven times the number of 22q11.2 fetal microdeletion cases were detected in this cohort population than competing NIPT methods for which data is available.
Early identification and intervention in children with 22q11.2 deletion syndrome can make a significant difference in the health and development of the child. Prenatal screening can alert caregivers about an affected infant, and allow for delivery and treatment at a specialized facility and neonatal treatments designed to mitigate symptoms. The reported PPV and low false positive rate supports use of Panorama as a first-line screen in the general population.
The study, entitled Clinical Experience with Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Screening for 22q11.2 Deletion Syndrome can be found at http://onlinelibrary.wiley.com/doi/10.1002/uog.15754/epdf.
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. In pursuit of that mission, Natera operates a CAP-accredited laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, CA. It currently 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 system. Tests 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; and the Panorama® prenatal screen to screen for common chromosomal anomalies in a fetus as early as nine weeks of gestation. 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 U.S. Food and Drug Administration.
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 uncertainty in the development and commercialization of Natera's planned future cancer products or other new products or if the results of its clinical studies do not support the use of its tests, or cannot be replicated in later studies required for regulatory approvals or clearances. 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 September 30, 2015. 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.
Mike Brophy, Investor Relations, 650-249-9091 x 1471
SOURCE Natera, Inc.