Sting operation raises concerns about Sequenom’s, verifi’s accuracy

MaterniT21verifiinformaSeqIn the Fall of 2014, two maternal-fetal medicine specialists ran a sting operation on the non-invasive prenatal screening (NIPS) labs. Their operation reported embarrassing results for Sequenom and Illumina.

Drs. Tamara Takoudes and Benjamin Hamar with Boston Maternal-Fetal Medicine have offered NIPS to their patients since 2012. After almost two years of offering the testing and then counseling their patients about the results, they wondered how accurate each NIPS laboratory was with their test results. So, the doctors decided to run a sting operation.

They took blood samples from two 44 year-old women who were not pregnant and submitted those samples to Sequenom, Illumina, LabCorp, Ariosa, and Natera. Here were the results reported by each laboratory:

Table from Sting

Got that? Sequenom’s MaterniT21, Illumina’s verifi, and LabCorp’s InformaSeq (which is the KFC-version of verifi) all reported that these non-pregnant women were having baby girls that did not have Down syndrome. Only Ariosa and Natera returned accurate results, reporting there was insufficient cell free DNA in the blood samples for their tests Harmony and Panorama to report a result.

The authors argue that their sting operation highlights the need for quality controls with the NIPS laboratories–something that has been called for by every professional medical organization that has issued a statement on NIPS and by physicians in the New England Journal of Medicine over a year ago.

But I wouldn’t hold my breath waiting for those to be adopted by the labs voluntarily.

At first blush, these results would seem very embarrassing for Sequenom, Illumina, and LabCorp. Sequenom’s tag line for MaterniT21 is that its results are “Clear. Convenient. Compelling.” It highlights how it reports out a simple “positive” or “negative” making their test results clear. Illumina markets its tests as being “months ahead of the curve” as a positive for moms who may want to find out if their expectant child has Down syndrome before they have started to show. These tests are supposed to be the most accurate ever!

And, yet, they reported that a non-pregnant woman was having a baby girl.

But, I doubt they’ll be too ashamed at their tests inaccuracy.

Instead, I think Drs. Takoudes and Hamar may have opened up a new market for Sequenom, Illumina, and LabCorp.

Based on the sting operation results, Sequenom, Illumina, and LabCorp can instead argue that their NIPS tests shouldn’t just be offered to high-risk moms, or low-risk moms, but to no-risk moms as well!

After all, none of the NIPS labs market their tests as pregnancy tests. It is presumed that women seeking information on whether their expectant child may have Down syndrome are already in fact pregnant. Instead, what every NIPS labs marketing materials seek to appeal to is their tests’ ability to provide reassurance that a pregnancy is not positive for Down syndrome. And, compared to Ariosa and Natera, only Sequenom, Illumina, and LabCorp provided that reassurance.

Only Sequenom, Illumina, and LabCorp reassured women who were not pregnant that the child they were not pregnant with did not have Down syndrome.

Clear.

Convenient.

Compelling.

Indeed.

Comments

  1. http://onlinelibrary.wiley.com/doi/10.1111/bioe.12122/abstract

    abstract

    Prenatal screening for foetal abnormalities such as Down’s syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and ‘prenatal personalised medicine’. The article ends with recommendations for further debate, research and analysis.

  2. Michael Kalnoski says:

    Not a “sting operation”. It’s a stupid to even send a non pregnant patient or a male patient. You could send PSA tests in for women and get no evidence of prostate cancer. Does that mean the test is flawed?? Not a scientific test of accuracy. Those doctors were clearly not scientists.

    • Your analogy isn’t comparable. If you sent in samples taken from women for a PSA test and the test reported no evidence of prostate cancer, then the test functioned as it should. Here, they sent in samples from women who were not pregnant and the tests–marketed as “99% accurate”–not only said they were pregnant, but that their child had a genetic condition.

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