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UK Study Suggests Prospective Parents Receive Inadequate Information From NIPT Provider Websites

NEW YORK (GenomeWeb) – Prospective parents turning to the Internet for information about noninvasive prenatal aneuploidy testing often encounter incomplete and sometimes inaccurate information on the websites of test providers, according to a recent study by researchers in the UK.

"None of the websites included all of the information that was needed," said Heather Skirton, the study's lead author and a professor of applied health genetics at Plymouth University. This was despite the fact that numerous professional organizations — such as the Royal College of Obstetricians and Gynaecologists in the UK, the American College of Obstetricians and Gynecologists, and others — have issued recommendations on the types of information that should be available to parents considering NIPT, she said.

"We would strongly recommend that companies that are marketing these tests … choose to include that information accurately in their websites," Skirton said. "It's not like selling a consumer product; it's having an impact on peoples' lives in a very real and sometimes dramatic way."

The study, published online in Prenatal Diagnosis last month, arose from Skirton's long-term research interest in direct-to-consumer testing — which does not currently include NIPTs, which require the involvement of a healthcare professional — and informed consent for genetic testing, as well as her team's participation in a project that is studying the introduction of NIPT in the UK.

"We started to talk about whether the information that was on these websites, that parents were going to use to help them decide whether to have an NIPT test, was going to enable them to give informed consent or to make an informed decision about those tests," she said.

For their study, the researchers searched the Internet for information about NIPT using search terms, such as 'prenatal test' and 'Down syndrome test,' that expecting parents would be likely to enter in a web browser.

They then scrolled through the first 200 hits and identified websites for their study, which had to match a number of criteria: They had to be either companies or private health providers offering prenatal tests by cell-free fetal DNA or RNA analysis, where the purpose of the test is to identify fetal abnormalities or genetic conditions; providers also had to accept payment by consumers; and the websites had to be in English.

Using these criteria, the team identified 40 websites of test providers, most of them based in the UK, but also including organizations in Australia, the US, Canada, Belgium, Dubai, and Ireland. They did not include the companies selling the test technology — such as Roche's Ariosa, Natera, Sequenom, or Illumina. Rather, most of them were hospitals, prenatal centers, or clinics offering NIPT, and almost all of them used tests from one of the established NIPT technology firms.

The researchers then assessed whether those websites covered a number of topics that professional organizations have said potential users should be informed about, for example, what the tests are designed to discover, who they are suitable for, what their detection rates for different disorders are, their false-positive and false-negative rates, that they cannot rule out all fetal abnormalities, and that positive results require confirmation by invasive testing.

Next, they delved deeper into the text of each website and analyzed whether the information presented was balanced and accurate; unsubstantiated or lacking evidence; used persuasive or emotive language; or was conflicting, misleading, or incomplete. 

Overall, the researchers found "few instances of actual inaccuracy," and those that existed were mainly "overly reassuring statements about normal results," according to the study.

However, many websites covered key pieces of information poorly. For example, only 15 percent pointed out that the test cannot rule out all fetal abnormalities, because it is focused on a few specific ones, and some sites even stated, misleadingly, that the test guarantees a healthy baby. 

Not addressing the limitations of the test is an important omission, Skirton said, because research has shown that parents seeking prenatal testing want to reassure themselves that 'their baby is OK' rather than rule out specific disorders. "If you don't actually point out that it's not going to detect everything, people will assume in many cases that that's the case," she said.

Also, just over half the websites stated that an invasive test is required to confirm a positive NIPT result, and only a quarter mentioned the importance of pre-test counseling with a healthcare professional.

In addition, a quarter of the websites did not mention the false-positive and false-negative rates of the test, even though they did state its detection rate. Another quarter did include the term 'false negative' but did not explain it in an easy-to-understand way.

Overall, sites directed at health professionals tended to have more detailed information and were more likely to include references than those geared at prospective parents, but the study only included sites for professionals if parents were directed to them.

"We tried to conduct the study from the perspective of the parent," Skirton explained. But even on a page for parents, she said, references to medical studies should be included. "People ought to be able to find them, and they ought to have some way of checking up that the claims [providers are making] are appropriate."

Skirton said she was positively surprised that only about 40 percent of the websites used persuasive or emotional language to try and lure parents into taking their test.

But nevertheless, the study found several sites "that we felt were very inappropriate," she said, because of the language they used, misleading statements about the capabilities of the test they made, or because they stated conflicting numbers for detection rates or risks in different places on the site. 

The researchers found no correlation between the specific test a provider offered — such as Ariosa's Harmony, Natera's Panorama, Sequenom's MaterniT21, or Illumina's Verifi — and the quality of the information it provided.

Test technology providers, on the whole, produce "reasonable information," Skirton said, "but that doesn't mean that the organizations that are then using those tests necessarily put on their websites the most recent and up-to-date information."

Several NIPT providers said the findings of the study are significant. "It is striking how many centers do provide inadequate and incomplete information on their websites," said Dirk Biskup, managing director of Cenata in Tübingen, Germany, which offers Ariosa's Harmony test. Performance data, in particular, needs to be based on results published in peer-reviewed studies, he said. "Performance data based on 'own research' or 'own analysis' should definitely not be used; these data are often incorrect and misleading. 

"Today, many patients are referring directly to information from the web and trust the information they are receiving from there," Biskup said. In addition, not all healthcare professionals that offer NIPT to their patients have detailed knowledge about the technology, which is still relatively new.

Hanns-Georg Klein, CEO of the Center for Human Genetics and Laboratory Diagnostics in Martinsried near Munich, which provides the Prenatalis test that uses Illumina's NIPT technology, agreed that "the information provided on the homepage should be according to the guidelines of the medical professional associations." In general, he said, NIPT "should be restricted to accredited medical laboratories and embedded in a complete concept for prenatal care, including professional counseling, first-trimester screening, ultrasound, and invasive prenatal diagnostics."

To improve the shortcomings identified by the UK study, "it would be useful if there was more consultation and collaboration between the companies and professionals and professional organizations to ensure that the websites do comply with [the] information" recommended by professional organizations, Skirton said, adding that parent groups have a role to play, too.

"In the end, I understand companies are profit-making organizations, but what you would hope in the long run is that the best-quality product is being offered to the parents."