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Premaitha Health Inks Deal With Wolfson Institute, Publishes Clinical Validation, Expands Capacity


NEW YORK (GenomeWeb) – UK-based noninvasive prenatal test developer Premaitha Health is making inroads in the European market with its Iona test, and this week the company signed a deal with the Wolfson Institute, one of the largest antenatal screening laboratories in the UK, to conduct a "demonstration project" of the test, Premaitha Health CEO Stephen Little, told GenomeWeb.

In addition, the company has published a clinical validation study of its test, which it sells as a CE-marked kit, in 242 women. The test detected all 35 cases of trisomy 21, four cases of trisomy 18, and two of trisomy 13, with no false positives. One normal sample could not be analyzed due to low fetal fraction. Little said more validation studies would be published soon.

Currently, the market price for NIPT in the UK is around £300 ($464), Little said. He declined to disclose the price of Iona, but said that the firm "priced the product so that the lab can buy it, run the assay, and still make a margin for itself." Currently, market forces determine NIPT prices, but Little said that in the future, the UK National Health Service may set prices.

Premaitha launched its Iona test in early 2015, receiving the CE mark to offer it as an in vitro diagnostic in Europe in February. The Iona test runs on Thermo Fisher's Ion Proton and screens for trisomies 21, 18, and 13. Unlike NIPT developers in the US, which primarily offer their test as a service, Premaitha has focused on selling the assay as a kit, which it can do in Europe, since Iona is cleared as an IVD.

Under EU regulations, Little said that the company was able to bring the assay through IVD clearance without having to have a cleared version of Thermo Fisher's Ion Proton itself, which is the sequencing system Iona runs on. This is in contrast to US regulations, which require both the assay and the instrument to receive US Food and Drug Administration clearance in order to be offered as a 510(k)-cleared test.

Although, Little also explained that while for some tests, the CE mark is a self-certification process, NIPT is considered a high risk test, so regulators evaluate and certify the test.

Premaitha's main focus is to sell Iona as a kit, however it also recently expanded its in-house capacity to run the test. It opened a clinical laboratory at its headquarters in Manchester Science Park that is accredited by the Care Quality Commission, and tripled its testing capacity.

Little said that having in-house capabilities is useful for customers that are new adopters of the Iona test. "A lot of lab customers don't have the numbers to justify the installation of the system," Little said. "But, the expectation is that as their volume increases, they'll switch" to buying Iona as a product and running it in their own lab. "The service is not an end in itself, it's to drive the adoption of Iona," he said.

The demonstration project at the Wolfson Institute aims to assess the cost-effectiveness and uptake of Iona, as well as outcomes of the test and women's response.

Little said that Nicholas Wald, who heads the Wolfson Institute, has been a pioneer in Down syndrome screening, developing the triple test — which measures serum levels from a blood sample to give a risk estimate for Down syndrome. Under the agreement with Premaitha, the Wolfson Institute will use the Iona test as a reflex test, if women who are screened via the traditional route have a risk score of 1 in 800 or higher, Little said.

The goal is to figure out the most cost-effective way to use Iona, Little said. DNA-based NIPT is more expensive than traditional biochemical screening, but it is also more sensitive.

For all consenting women, the Wolfson Institute will take two blood samples at the time of the patient's visit. First, it will run the standard biochemical screening test and give a score based on those results, which will also take into account other risk factors like maternal age. If the woman is at high risk, the Iona test will be run on the second blood sample.

"The woman doesn't have to come back in for a second test," Little said, and "she also doesn't have the additional anxiety of being told that the first test indicated high risk." She will only get the final result after both tests are run.

The agreement with the Wolfson Institute also demonstrates the test's ease of use, Little said. The institute is one of the first labs to begin running Iona that does not have a genetics background.

The project with the Wolfson Institute will run for at least one year, Little said. If successful, the idea would be to establish Iona as standard of care as a reflex test.

The company also has a three-year collaboration with a National Health Service hospital, St. George's University Hospital to offer Iona both through the UK's NHS as well as privately. Little said that collaboration, which was struck in March, is progressing well and the company and hospital have made a few tweaks to the testing process to make it "better fit the health service lab," Little said.

Little said the company is not yet planning any major expansion of its test to include other indications, aside from assessing gender, for which he said there is a big demand. With regards to sex chromosomal aneuploidies and microdeletions, Little said the company would be guided by recommendations from professional societies like the International Society for Prenatal Diagnosis and the EU Society of Obstetrics and Gynecology.

"There's still debate about whether you should or should not be testing for those particular conditions," he said. "At the moment we're taking a conservative approach, rather than pushing ahead with biomarkers of uncertain value." The clinical utility of screening for such indications has not yet been established, he added, and adding in those indications could potentially "unnecessarily medicalize pregnancies while providing little clinical value."

The firm competes with other NIPT providers like Illumina, Sequenom, Natera, and Ariosa, as well as the European laboratories that have licensed technology from Illumina or Sequenom to develop their own tests. However, Little said that one advantage Premaitha has is that its test is the only one cleared for IVD testing in Europe.

But Premaitha is also facing a lawsuit filed by Illumina alleging patent infringement, claiming that the company infringes on European Patent (UK) 0 994 963 B2 and European Patent (UK) 1 981 995 B1, both relating to the use of cell-free fetal DNA for NIPT.

Little said that he could not provide an update on the lawsuit. In addition, he said that the recent ruling by the US Court of Appeals for the Federal Circuit that upheld the invalidation of a broad patent held by Sequenom would likely not have any impact on Illumina's suit, since that patent was only invalidated in the US, not the EU.

Premaitha's test is currently not available in the US, and Little said that there are two main barriers: the IP space and the regulatory landscape. The invalidation of Sequenom's patent makes the IP space more favorable, he said. However, in order for Premaitha to offer Iona as a product in the US, it would likely need FDA clearance for both the assay and the instrument.