Possibly millions of tests have now been performed. NIPT is being rolled out to patients across the globe at an amazing rate compared to the introduction of other diagnostic tests, and the NHS is getting in on the game. The number of companies offering tests is growing and so are the litigation’s. Most recently Illumina filed a new patent infringement suit against Ariosa claiming their Harmony NIPT test infringes a patent for “Multiplex Nucleic Acid Reactions†(one of the patent holders is ex-Illumina, and was an author on the Ariosa paper discussed below). NIPT commonly tests for trisomy 21 (Down’s Syndrome), trisomy 18 (Edwards’ Syndrome) and trisomy 13 (Patau’s Syndrome) and most tests are NGS based, Ariosa’s test is array based. You can get an NGS-based NIPT test from ThisIsMy for just £320, tests in North America are as low as £200. Tests are available from: Ariosa Harmony, BGI NIFTY, Genesis Genetics Serenity (Verifi), Illumina Verifi, Natera Panorama, Premaitha IONA, Sequenom MATERNIT21.
NIPT can also detect cancer: It is still quite early days, and there are inevitable headlines when NIPT or PGD go wrong (HFEA and Daily Mail); but there has been lots of coverage recently on the reporting of cancer diagnoses from NIPT testing, initially from Sequenomand most recently from Illumina (Bianchi et al JAMA 2015). Detecting cancer is low on the list of expected outcomes, abnormal results are usually put down to a foetus positive for one of the syndromes being tested for; if this is not the case then an abnormal placenta, a lost twin and even abnormal sex chromosomes in the mother come higher up the list of possibilities than cancer! The 10 cases reported in the JAMA paper suggest a lower cancer incidence than might be expected in a similar control group. However this is not surprising given that the current NIPT tests are using low-coverage WGS so will miss smaller amplifications and deletions. A “simple†test of this would be to sequence these 125,000 cases to higher coverage and see if incidence goes up (anyone know how many reads are being used in Verifi or similar?). The case of Danielle Bryant, one of patients reported in the JAMA study and interviewed by GenomeWeb and MIT Technology Review, tells of an amazing clinical journey with a positive outcome – hopefully Illumina will continue to monitor her cancer using a ctDNA assay. Other NIPT providers like Ariosa and Natera are likely to have to face up to how this kind of data will be dealt with
I am certain that by the time my kids are having their own kids they’ll get NIPT tests and probably have had their genomes screened for carrier status – if not have their WGS data on their iPhone X.
Should read "100%" (not "10%") in >>NIPT detected Trisomy 21 in 10% of cases (38 of 38)…<<
I beleive you have missread the article… it does not say the NIPT would be cost effective at £50 .. it says is would be cost-effective at the lower end of the price charged in the private sector (around £400)
I guess array based analysis will require much more DNA than NGS based assays……so NGS will be the winner. (e.g PGM only needs as little as 10 ng of DNA to get a result).
and why would larger quantity of DNA be an obstacle when you are taking blood directly from the mother? We are not talking about samples with vestigial amount of usable DNA.
Fail to see your point.
actually the Ariosa system uses their own scanner, called the Concerto. it is not a Genetitan. As I understand it, the arrays are synthesized so that a batch of 96 samples/arrays are processed in parallel, not 384.
Your article glosses over many issues. http://thednaexchange.com/2013/07/11/guest-post-nips-is-not-diagnostic-convincing-our-patients-and-convincing-ourselves/ And http://thednaexchange.com/2015/05/04/guest-post-ppv-puffery-sizing-up-nipt-statistics/
It is clearly stated why this method fails when it does…….it seems to be because the quality or quantity of DNA. NGS is much more robust working with "vestigial" amounts of circulating DNA and has a much lower failure rate.
This comment has been removed by the author.
Advisor.Clinic (www.advisor.clinic) is the leading resource about NIPT. It contains scientific reviews of non-invasive prenatal tests, risk profile assessment for expectant mothers, and a database of clinics.
Interesting source!