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FDA Cautions of False Results From Prenatal Genetic Tests

NEW YORK – The US Food and Drug Administration issued a safety communication on Tuesday, warning people that genetic noninvasive prenatal screening tests (NIPT) can provide false results and need further diagnostic confirmation.

While healthcare providers often use NIPT, the FDA has yet to authorize, clear, or approve any of them, nor has the agency evaluated their accuracy and performance. As screening tests, NIPT can provide a measure of a fetus's risk for certain genetic abnormalities but are not diagnostic tests, which are more definitive.

The agency stressed that patients and providers need to confirm NIPT results with diagnostic tests.

In its warning, the FDA referenced reports of patients and healthcare providers having made critical decisions, such as ending pregnancies based solely on NIPT results and without confirmatory diagnostic testing.

It also cited "concerns raised in recent media reports." In an analyst note, Mark Massaro of investment firm BTIG suspected that was a reference to an article published in The New York Times in January, which failed to differentiate screening tests from diagnostic ones.

The FDA recommended that patients speak with a genetic counselor or other healthcare provider before deciding to use NIPT or deciding which NIPT to use and to not rely on NIPT results alone to make decisions about one's pregnancy.

The agency recommended that providers familiarize themselves with recommendations made for patients, as well as the technical and biological factors that can influence NIPT results. It further recommended that providers discuss the risks and benefits of NIPT with patients, ensure that patients receive adequate follow-up testing and care, and that practitioners not rely solely on NIPT results to diagnose chromosomal abnormalities and disorders.

Despite the warning, industry analysts suspect that it will have limited effect on NIPT developers, such as Natera.

Alex Nowak, an analyst for Craig-Hallum, wrote in a note to investors today, "The Safety Communication does not highlight any new data, details or facts that are not already well known to those following NIPTs over the years — NIPTs since their inception are for screening and any positive result needs to be confirmed." He further noted that the American College of Obstetricians and Gynecologists, as well as the Society for Maternal-Fetal Medicine, "have both supported NIPTs, and the FDA's document is simply telling providers/patients to follow the label and not act solely upon a positive screening result. We think the potential impact to [Natera] is minimal and that the largest negative is that it feeds the bearish argument which we believe is overblown."

Massaro wrote that Natera, which recently defended its NIPT billing practices after having been accused of deceiving consumers by short seller Hindenburg Research, plans to speak with the FDA and "are inclined to pursue FDA approval."

He also believes that Natera plans to leverage its recently published SMART study, which assessed the accuracy of the firm's Panorama NIPT screening test for 22q11.2 deletion syndrome, as well as possibly other data, to become the first FDA-approved NIPT.

The FDA stated in its warning that NIPTs are currently marketed as lab-developed tests for which the agency generally does not enforce applicable regulatory requirements. The agency is, however, "continuing to work with Congress on legislation to establish a modern regulatory framework for all tests, including LDTs."

In Wednesday morning trade on the Nasdaq, shares of Natera were up around 3 percent at $38.68.

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