ACMG is the most recent medical society to advocate for broader adoption of NIPT, including recommendations that encourage NIPT as the optimal initial screening test for all pregnant women, regardless of age or other risk factors. These latest guidelines reflect the growing consensus among genetic experts that the clinical benefits of NIPT are superior to the existing conventional screening options, including Maternal Serum Screening (MSS).
ACMG recommends "informing all pregnant women that NIPS is the most sensitive screening option for traditionally screened aneuploidies (i.e., Patau, Edwards, and Down syndromes)."
"We are pleased that ACMG recognizes that every woman should be offered NIPT/NIPS, like Panorama®, despite their risk status, providing families with critical insight into the genetic health of an unborn child. This insight allows families to make informed decisions about their baby's future, decisions which may include identifying hospitals equipped to deliver a baby that may require special care, or finding a specialist who can provide appropriate medical care to improve long-term outcomes for the child," said Kimberly Martin, MD, FRCSC, FCCMG, FACOG, FASMG, Senior Global Medical Director, Women's Health at Natera. "Since all high risk screening results should be confirmed with diagnostic testing, the higher sensitivity and lower false positive rates with NIPT provide women and their doctors with more accurate information and result in far fewer women proceeding to invasive testing compared to MSS. We applaud this organization for acknowledging the considerable depth of clinical data supporting NIPT as a first line screen for any woman who wants this information, and educating their members about the clinical benefits of this important prenatal screening test."
These latest guidelines align with other recently released medical guidelines supporting the use of NIPT as an optimal, initial screening option for all singleton pregnancies, including those issued by the International Society for Prenatal Diagnosis (ISPD) and the American Society of Human Genetics and The European Society of Human Genetics (ASHG/ESHG).
"I'm delighted that the recent ACMG guidelines now encourage all pregnant women to speak to their doctors about potentially using NIPTs to screen for chromosomal abnormalities in their developing babies," said Joe Leigh Simpson, professor of Obstetrics and Gynecology at Florida International University.
Long involved in prenatal genetic diagnosis, he also stated, "It is rewarding to see yet another highly-regarded, scientific organization update their guidelines so the benefits of NIPT are not just limited to those who are considered high-risk."
The recent ACMG guidelines are supported by peer-reviewed data; since 2012 more than 68,600 patients (<35 years of age) at delivery have been evaluated in eight studies, providing further clarity around the clinical benefits of prenatal screening. Insurance plans are also recognizing the benefits and an increasing number of them have updated their medical policies to cover NIPT as "medically necessary" for all women. Currently, plans representing more than 75 million insured lives cover NIPT for all singleton pregnancies.
"As a practicing physician, I'm encouraged by the ACMG's updated guidelines recognizing that NIPT could benefit a patient at any risk status, so that all patients have the option to learn critical information about the genetic health of their developing child," said Damla Karsan, MD, at The Women's Specialists of Houston and clinical faculty member specializing in Obstetrics and Gynecology at Texas Medical Center. "I've seen instances where patients have been considered low-risk, yet delivered babies with serious genetic diseases, so knowing they'll now have the opportunity to use this non-invasive screening tool, that could arm them with knowledge about the genetic health status of their baby, is a positive step for their pregnancy journey."
In addition to the recommendation surrounding average risk women, ACMG has also commented on several other areas of NIPT including select CNVs (microdeletions), rare trisomies, and genome-wide CNVs.
- ACMG recommends informing all pregnant women of the availability of the expanded use of NIPT to screen for clinically relevant CNVs (microdeletions) and suggests specific discussion points that should be covered during this conversation.
- ACMG does not recommend NIPS to screen for autosomal aneuploidies other than those involving chromosomes 13, 18, and 21 (although it does recommend informing women about the availability of the expanded use of screening for sex chromosome abnormalities).
- ACMG does not recommend NIPS to screen for genome-wide CNVs. If this type of information is desired, it recommends diagnostic testing with chromosomal microarray analysis.
Panorama®, Natera's non-invasive prenatal screening test, has previously demonstrated that the sensitivity, specificity and positive predictive value (PPV) of this test are similar for both average and high risk women; for some chromosomal abnormalities, it is also superior to any other conventional screening option. PPV indicates the likelihood that a fetus is affected by a specific chromosomal abnormality or genetic condition, once a pregnant woman receives a "high risk" result from the NIPT test. Panorama® is the only commercially available NIPT that utilizes single nucleotide polymorphisms (SNPs) in its analysis for chromosomal abnormalities, allowing it to distinguish between fetal (placental) and maternal cell-free DNA, thereby delivering higher sensitivities than other tests. Unlike traditional MSS, Panorama® also screens for more genetic conditions, including common chromosomal abnormalities like Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome) Trisomy 13 (Patau Syndrome) and Triploidy; sex chromosome abnormalities; and five microdeletions, including 22q11.2 deletion syndrome (DiGeorge Syndrome).
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, and 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® non-invasive prenatal test (NIPT) to screen for common chromosomal anomalies in a fetus as early as nine weeks of gestation. 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 U.S. Food and Drug Administration. For more information, visit http://www.natera.com and connect on Twitter and Facebook.
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 ability to increase demand for Panorama and obtain favorable coverage and reimbursement determinations from third-party payers, our expectations of the reliability, accuracy, and performance of Panorama®, or of the benefits of Panorama® 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 period ended March 31, 2016. 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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