NEW YORK (GenomeWeb) – Health insurer Anthem Blue Cross Blue Shield this week changed its medical policy regarding non-invasive prenatal testing to say that such screening technology is considered medically necessary for most pregnancies regardless of the risk status.
Anthem, like most insurers, previously deemed NIPT medically necessary only for high-risk pregnancies, and the change makes Anthem one of the first major payors to say that the technology is medically necessary also for average- and low-risk pregnancies.
According to Anthem's new policy, cell-free DNA-based prenatal screening for trisomy 21, 18, and 13 is medically necessary for women carrying a single fetus using NIPT as a screening tool for fetal aneuploidies "regardless of risk status."
Anthem continues to consider NIPT investigational and not medically necessary for all other pregnancies, including those with multiple gestations, noting that the American Congress of Obstetricians and Gynecologists does not recommend the technology for women carrying more than one fetus and that NIPT has not been sufficiently studied in this group.
In making the change to its policy, Anthem acknowledged that there still is no consensus agreement about the utility of NIPT for average- and low-risk pregnancies. While some studies support the use of NIPT in pregnancies outside of high-risk pregnancies, Anthem noted "these findings are weakened by study design limitations," such as low sample sizes and possible biases in the interpretation of the results.
Regardless, it said that NIPT screening"is considered as an acceptable screening option for fetal aneuploidy … in average-risk women carrying a single gestation." Anthem recommended that women undergoing NIPT be advised of the limitations of the technology, and that those with positive test results should be tested with confirmatory diagnostic assays, such as amniocentesis or chorionic villus sampling.
While it is not clear whether other payors will follow Anthem's lead, as one of the nation's largest insurers, its decision to change its policy could signal a sea change in how payors see NIPT. Through its affiliates Anthem has about 38.5 million members.
Until this week, the major insurers considered NIPT medically necessary for high-risk pregnancies, but as more research comes out in favor of NIPT for average- as well as low-risk, pregnancies, they may revisit their policies. For example, in April, the New England Journal of Medicine published a series of studies that described how the use of NIPT could be integrated into the clinical care of all pregnant women, even though one study cautioned that the technology should be used for screening only and not as a replacement for confirmatory diagnostic karyotyping.
For firms that offer NIPT, such as Illumina, Sequenom, Natera, and Quest Diagnostics, average- and low-risk pregnancies represent a huge market opportunity that has not been reimbursed by insurers. Piper Jaffray analyst William Quirk last month pegged the average-risk NIPT market at $2.2 billion. By comparison, he said the high-risk NIPT market is about $750 million. He added that the average-risk market is currently about 5 to 6 percent penetrated, while the high-risk market is 54 percent penetrated.
Among NIPTs that are offered for average-risk pregnancies are Sequenom's VisibiliT, and tests by German startup Cenata, which licenses NIPT technology from Roche's Ariosa Diagnostics.
Additionally, Illumina said early this year that it was in discussions with the US Food and Drug Administration about clinical trials and datasets that would be required to bring a NIPT through FDA clearance for the average-risk population. Illumina CEO Jay Flatley later added said that the firm had suspended efforts to bring a NIPT on the HiSeq 2500 platform through FDA clearance as such a test would have targeted the high-risk space. Instead, Illumina planned to focus on launching the VeriSeq NIPT, which runs on the NextSeq 500 platform and is targeted to the average-risk population.
Last month, Flatley said the test was in the final stages of the European regulatory process for the VeriSeq NIPT software and Illumina hoped to gain CE marking for the test soon. He added that in the second quarter, the company inked five new partnerships outside the US to develop and run the VeriSeq NIPT protocol and had a total of 19 such partnerships to eventually run the test in its partners' labs.
Meanwhile, Natera is also eyeing the lower-risk market for NIPT and a year ago published a study to demonstrate the utility of its Panorama test for lower-risk pregnancies. A company official also told GenomeWeb that the firm was seeing increased use of the test by physicians for lower-risk pregnancies.
Natera also sponsored an ongoing study to evaluate the use of Panorama in combination with its Horizon multi-disease genetic carrier screening test in order to establish the utility of NIPT as a first-line screen for the general population.
In a research note today, Cowen & Co.'s Doug Schenkel said that Natera is the "current market leader in average risk," and predicted that it would maintain that leadership position. He added that average-risk NIPT testing accounted for just more than half of Panorama testing volume in the US during the past two quarters and Natera is positioned to grow quarterly average-risk volume from approximately 20,000 tests in Q1 to approximately 30,000 in Q4.
Lastly, Quest told GenomeWeb recently that it plans to offer NIPT for average-risk pregnancies only upon the recommendation by professional societies. Douglas Rabin, Quest's medical director of women's health, said in a statement, "If compelling new science emerges suggesting that these technologies can be used diagnostically, or that the benefits of screening average-risk women outweigh the risks, we will certainly reconsider our position."