The Meals and Drug Administration warned expectant mother and father on Tuesday concerning the threat of false optimistic outcomes from a booming line of prenatal blood assessments that display screen fetuses for uncommon genetic situations.
The discover adopted a New York Occasions examination in January that reported on the incidence of false optimistic leads to a few of these assessments, referred to as noninvasive prenatal screening assessments, or NIPTs. That article quoted girls who acquired false optimistic screening outcomes for very uncommon situations; highlighted examples of deceptive advertising and marketing by firms promoting the assessments; and described some experiences of pregnancies that have been terminated primarily based on a screening with out a confirmatory check.
The company warned medical doctors to not diagnose genetic issues primarily based on these outcomes alone and burdened the necessity to observe optimistic screenings with extra dependable “diagnostic” testing. It mentioned it was “conscious of experiences” that some girls “have ended pregnancies primarily based solely on the outcomes” of those genetic screening assessments.
“Whereas genetic noninvasive prenatal screening assessments are broadly used in the present day, these assessments haven’t been reviewed by the F.D.A. and could also be making claims about their efficiency and use that aren’t primarily based on sound science,” Dr. Jeff Shuren, the director of the company’s Middle for Gadgets and Radiological Well being, mentioned in an announcement.
The assessments are taken by over a 3rd of pregnant girls in the USA. However they fall right into a class known as lab-developed assessments, which aren’t regulated or accredited by the F.D.A. In its security discover, the company mentioned it was working with Congress “on laws to ascertain a contemporary regulatory framework for all assessments,” together with the class that covers these screenings.
The company’s warning comes after quite a few accounts, courting again years, of misinterpretations of the screenings as being definitive. However the criticism has intensified in latest months, with 97 Republican legislators sending a letter to the F.D.A. in January, prompted by the Occasions article.
“That is an space that has involved the company for a very long time,” mentioned Alberto Gutierrez, the previous director of the F.D.A. workplace that oversees many medical assessments.
The shortage of regulation of lab-developed assessments “has led to many circumstances the place the laboratories have claimed greater than they need to primarily based on the information that’s out there,” he added.
The warning doesn’t include any consequence for prenatal check producers. However it urged them to submit their merchandise for voluntary approval. A spokeswoman for the company declined to say whether or not it was at present working with any producers on this entrance.
In simply over a decade, the assessments have gone from laboratory experiments to a serious trade, with firms like Labcorp and Quest Diagnostics getting into the enterprise, alongside many start-ups.
One giant check maker, Natera, mentioned that in 2020 it carried out greater than 400,000 screenings for one sort of situation, known as microdeletions — the equal of testing roughly 10 p.c of pregnant girls in America. On a convention name with traders in 2021, it revealed that 75 p.c to 80 p.c of its core prenatal testing enterprise included microdeletion screenings.
Instantly after the F.D.A. warning was launched on Tuesday, Natera’s inventory dropped greater than 7 p.c, but it surely had regained a lot of its worth by midmorning Wednesday.
“Natera absolutely helps the F.D.A.’s communication concerning NIPT and has lengthy believed that educating sufferers and well being care suppliers on the strengths and limitations is crucial to affected person care,” the corporate mentioned in an announcement.
Myriad, one other check maker, mentioned it might help an F.D.A. function in regulating lab-developed assessments. Labcorp mentioned it appreciated the F.D.A.’s steering on this topic, and that “screening assessments ought to be adopted with diagnostic testing when acceptable.”
Different giant check makers, together with Quest and BioReference Laboratories, didn’t instantly return requests for remark.
The Occasions examination included a assessment of 17 brochures from firms that promote prenatal screenings. On the time, 10 of the brochures didn’t point out {that a} false optimistic may occur. Mr. Gutierrez reviewed a few of the supplies and described them as “problematic” and “deceptive.”
“Many laboratories that supply these assessments declare the assessments are ‘dependable’ and ‘extremely correct,’ providing ‘peace of thoughts’ for sufferers,” the company wrote, quoting examples The Occasions printed in January. “The F.D.A. is worried that these claims might not be supported with sound scientific proof.”
After reviewing the scientific literature, the company mentioned that whereas prenatal screening assessments “typically carry out nicely for ruling out issues,” they’re much less dependable when delivering optimistic outcomes. Probably the most dependable optimistic outcomes are for Down syndrome. For extra uncommon genetic issues, brought on by small lacking snippets of chromosomes referred to as microdeletions, the company discovered {that a} optimistic screening end result could also be a false optimistic between 70 p.c to 98 p.c of the time.
Their findings align with the Occasions article, which recognized 5 microdeletion screenings for which about 85 p.c of the optimistic outcomes are false positives.
“It is a sturdy response,” mentioned Liz Richardson, who directs The Pew Charitable Trusts’ well being care merchandise mission and has been an writer of experiences calling for regulation of prenatal testing. “It nonetheless does put lots of the burden, for my part, on the customers and the well being care suppliers to know interpret these assessments, when actually the burden ought to be on the corporate to speak in a truthful and non-misleading manner,” she added.
“Whereas it is a useful first step, I believe what’s wanted is extra complete reform of F.D.A.’s oversight of those assessments, in addition to different laboratory-developed assessments.”
A invoice looking for to offer further oversight is at present in Congress. The VALID Act is a bipartisan invoice in each chambers that will give the F.D.A. the authority to control lab-developed assessments in the identical manner that it regulates diagnostic assessments. The invoice is headed to committee this spring.
In an announcement, Consultant Chip Roy of Texas, one of many authors of the congressional letter and an opponent of abortion, applauded the F.D.A.’s discover as “one other step in direction of defending life.”
“Mother and father deserve full info when making sophisticated medical selections for his or her kids — particularly when these assessments generally is a matter of life or demise,” he mentioned.
Susan C. Beachy contributed analysis.
