A recent report shares the odds that a noninvasive prenatal genetic screening (NIPGS) result is suggestive of a true positive in a clinical setting. It also makes several key points about the administration of NIPGS and patient choices.
Continue reading Positive predictive value for noninvasive prenatal genetic screening
Stories have been circulating for a while now that anomalous non-invasive prenatal genetic screening (NIPGS) results may sometimes indicate maternal cancer. Recently, however, these anecdotes have given way to more rigorous data, from a group of researchers at University of Leuven in Belgium, and from US companies Sequenom and Illumina.
For many this new discovery is not all that surprising. For several years now, researchers have been pursuing a test, based on cell-free DNA, that would provide a reliable “liquid biopsy.” Indeed, such tests are already being used clinically in limited circumstances, though–as with NIPGS–the rapid translation of this technology has left important questions about reliability and actionability as yet unanswered. Even more promising, sequencing cell-free DNA may circumvent some of the problems recently proposed with sequencing tumor DNA without matched controls from normal tissue–because both kinds of DNA will be present in serum, and can be distinguished by their relative frequency, much as NIPGS does with fetal and maternal cell-free DNA. Continue reading How do we deal with NIPGS and ‘The Big C’?
A couple weeks ago, the Daily Mail (which is the British print version of Fox News) announced a “Cheap, new test for Down’s that can be carried out at home: Instant results 90% accurate, say British makers”
The article seems to suggest, although it is not entirely clear, that this will be to Down syndrome testing what hCG detection was to pregnancy testing. At home! In private! No doctors involved!
What’s not entirely clear, however, is whether this is the best idea ever. Or, as Chris Kaposy puts it in Do we really need an even better test for Down syndrome?: “There is an inconsistency between the lived experience of people who have Down syndrome and the corporate arms race to develop new and better means for identifying fetuses with Down syndrome…In contrast to the scientist who devotes her life to the treatment of cancer, Dr. Iles’s devotion to create a test that helps parents to avoid the birth of people who tend to enjoy their lives seems somehow less ambitious, or off the mark.”
Word.
On a completely different front, it’s unknown what the regulatory agencies will think of the whole thing, since the only thing “stopping” them from regulating NIPT so far has been that it is a lab developed test and not a test kit. This seems to pretty clearly be a test kit. So have fun with that, FDA.
“Illumina has filed a lawsuit against Ariosa Diagnostics and its parent firm, Roche Molecular Systems, for allegedly infringing one of its patents.
Illumina filed its suit Monday in the US District Court for the Northern District of California alleging that Ariosa is infringing its US Patent No. 7,955,794, entitled “Multiplex Nucleic Acid Reactions.” Specifically, Illumina believes that Ariosa’s microarray-based version of its Harmony Prenatal Test is infringing that patent.” Read more.
It’s not clear that this will make much of a difference. The existing patent litigations have been going on for years and everyone seems to be making plenty of money. But now that Ariosa and Natera are owned by deeper pockets, it will be interesting to see how far they are willing to go.
I don’t know, from a technical standpoint, how much more traction they’re going to get on the array based technologies? Does anyone?
The International Society for Prenatal Diagnosis (ISPD) issued an updated statement on prenatal screening for aneuploidy in April 2015. It is radically different than the one they issued only two years ago. Continue reading ISPD New Statement on NIPGS: A Major Sea-Change
A new study reports on the impact of noninvasive prenatal genetic screening (“NIPGS”) on referrals for diagnostic testing. It finds plummeting diagnostic testing and more. Continue reading More NIPGS = More Misdiagnoses and Risk
Cell-free DNA Analysis for Noninvasive Examination of Trisomy NEJM Original article
Accurate Description of DNA-Based Noninvasive Prenatal Screening NEJM Correspondence
Use of Cell-free DNA to Screen for Down’s Syndrome NEJM Editorial
Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results NEJM Brief Report
GenomeWeb – Noninvasive prenatal testing (NIPT) for trisomies and other chromosomal aneuplodies using cell-free DNA from the mother’s blood has been spreading quickly in maternal-fetal medicine in recent years and is poised to move from high-risk to average-risk pregnancy populations.
Three new studies, published online in the New England Journal of Medicine today, shed light on how these tests may be best integrated into clinical care for all pregnant women.
April 2 , 2015 GIM article: Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
In 2012, the American Congress of Obstetricians and Gynecologists (ACOG) recommended that next-generation sequencing of maternal plasma for fetal aneuploidy be offered as a secondary screening option to women already identified as having a high risk pregnancy. However, some commercial labs are extending the offering as a main screening option to even women with low risk pregnancies. With more people using the maternal plasma DNA testing, are the rates of routine serum screening being reduced? Continue reading Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
For the first time women are to get an advanced blood test to detect Down’s syndrome and other abnormalities in unborn babies on the NHS.
The non-invasive IONA test examines DNA in cells from the foetus found floating in the mother’s blood and looks for evidence of chromosomal abnormalities that cause genetic disorders.
It will be offered at in London through the NHS and privately.
The European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG) yesterday issued a joint position document calling for “responsible innovation” in the development, translation and clinical implementation of non-invasive prenatal genetic screening (NIPGS). In a lengthy statement authored by international experts (including Wybo Dondorp, Diana Bianchi, and Lyn Chitty), the two professional societies explored many of the ethical issues raised by NIPGS, issuing ten recommendations for addressing these issues, summarized here: Continue reading ESHG and ASHG call for “responsible innovation” in non-invasive prenatal screening
Prenatal Information Research Consortium 