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NIPT Landscape Shifts in 2014 as Providers Transfer Technology, Plan IVDs

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NEW YORK (GenomeWeb) – Noninvasive prenatal testing continued to expand in 2014 and is poised to move from high-risk to average-risk pregnancies in 2015. Last year, a global diagnostic player entered the field, new laboratories in the US and abroad launched NIPT services and several providers announced their plans to develop in vitro diagnostic NIPT kits.

Entering 2015, the landscape of NIPT providers and their alliances has shifted from a year ago. Overall, the global market continues to be dominated by four US-based companies – Sequenom; Illumina; Ariosa Diagnostics, which is in the process of being acquired by Roche; and Natera – as well as two players based in China, BGI and Berry Genomics. Almost all of these currently offer NIPT as laboratory-developed assays, though some have started to transfer their testing technology to other labs and some are working on IVD kits. BGI is the only provider so far to have obtained regulatory approval for its test, from China's Food and Drug Administration.

New to the scene are LabCorp in the US, which last year launched an NIPT based on Illumina technology, and Premaitha Health, a UK-based firm developing an IVD test. Local diagnostic laboratories in several European countries have started to launch their own tests, in some cases transferring technology from Illumina or BGI. They are joining LifeCodexx, an early NIPT adopter based in Germany.

In a move that is bound to expand the global reach of NIPT, Roche announced last month that it is acquiring Ariosa Diagnostics for an undisclosed amount. Roche initially plans to offer Ariosa's Harmony as a lab-developed test performed in Ariosa's CLIA laboratory, but eventually wants to develop an IVD kit for labs who want to run the test locally. To that end, Roche plans to work with regulatory authorities in various countries.

Ariosa, which had run the Harmony test on an Illumina sequencing platform, recently announced that it would switch the test to a microarray-based method using technology from Affymetrix. Roche said it also plans to develop a version of Harmony that will run on a different sequencing platform, possibly its Genia nanopore technology.

While Ariosa is entangled in a number of patent infringement lawsuits with competitors Sequenom and Illumina, those two companies decided to forge an alliance.

In early December, Sequenom and Illumina said they would pool their NIPT-related intellectual property, including patents they own and patents they in-license. Under the agreement, Illumina has exclusive worldwide rights to use the IP to develop and sell IVD kits for NIPT, and to license the patents to other laboratories, while both companies can use the IP for lab-developed tests. As part of the deal, Illumina is paying Sequenom $50 million upfront and will make additional payments until 2020. It will also pay Sequenom royalties on sales of yet-to-be launched IVD kits, and both firms will share revenue from the patent pool.

Illumina announced a number of other partnerships in 2014 as well, allowing it to disseminate its NIPT technology, which it obtained through the acquisition of Verinata Health, more widely.

Early in the year, for example, Illumina signed a multi-year supply agreement for its sequencing and array technology with LabCorp. A few months later, LabCorp announced the launch of a NIPT test of its own, called InformaSeq Prenatal Test, that uses Illumina's technology and seems to have identical performance to Illumina's Verifi test. Previously, LabCorp had offered Ariosa's Harmony test, following a partnership between the two companies in 2012.

Illumina is also offering the Verifi test through third parties, for example Progenity, a CLIA lab based in Michigan that operates in 32 states. Progenity previously offered Natera's Panorama test.

By the end of 2014, Illumina was planning to submit the Verifi test on the HiSeq 2500 to the US Food and Drug Administration, though it is unclear whether it has done so.

Outside the US, Illumina co-developed a sequencing system with Chinese molecular diagnostic testing company Berry Genomics, based on its NextSeq 500 platform, and integrated it with Berry's Bambni NIPT. As of last fall, the system was under regulatory review by the Chinese Food and Drug Administration for clinical use. Previously, Berry Genomics had offered the Bambni test on Illumina's HiSeq platform, but early in 2014 the CFDA said it would require NIPT and other prenatal genetic tests to be regulated.

Illumina also initiated a technology transfer program last year, under which diagnostic laboratories outside the US are establishing its sequencing technology for NIPT. The first deals announced were with Biomnis in France, Genoma in Italy, and the Center for Human Genetics and Laboratory Diagnostics in Germany.

BGI, which provides a test called NIFTY, is pursuing a similar strategy to disseminate its NIPT technology. Last month, for example, BGI Europe and Spanish diagnostic lab NIM Genetics said that NIM will adopt BGI's technology in order to launch a NIPT called TrisoNIM Advance. Earlier in the fall, BGI Dx struck a similar agreement with Bioscience Genomics of Italy, under which the Italian firm will transfer BGI's NIPT technology and launch a test called G-Test.

In June, the CFDA approved BGI's NIFTY in China, the first NIPT to clear this regulatory hurdle. The test was approved on two sequencing platforms, BGISEQ-100, which is based on Thermo Fisher's Ion Torrent platform, and BGISEQ-1000, which uses Complete Genomics' sequencing technology.

Sequenom, for its part, has been expanding access to its MaterniT21 Plus through partnerships in the US. Early last year, for example, Sequenom said that Mayo Medical Laboratories, a global reference lab that provides diagnostic tests to more than 4,000 hospitals, will offer the MaterniT21 Plus test. Later in the year, Mayo Medical Laboratories licensed NIPT intellectual property from Sequenom, suggesting that it might develop its own test.

Sequenom also struck a deal last summer with Quest Diagnostics, under which Quest will exclusively offer the MaterniT21 Plus test. Quest had previously offered Natera's Panorama test, following a partnership struck between the firms in 2013.

Also last summer, Sequenom expanded the content for MaterniT21 Plus further, adding three microdeletions.

For international markets, Sequenom launched a separate NIPT, called VisibiliT, last year that has a lower cost than MaterniT21 Plus, only reports on trisomies 21 and 18, and targets average-risk pregnancies. The company is offering VisibiliT, which runs in its own lab, through international distribution partners.

Natera continued to ink additional distribution alliances for its Panorama test in 2014. In the US, for example, it signed a deal with pathology service provider ProPath, followed by distribution deals with partners in Portugal and Thailand. However, the "vast majority" of the company's revenues from Panorama come from direct sales, according to a company official.

Early last year, Natera also expanded the content of Panorama, adding five microdeletion syndromes.

Going forward, Natera plans to transfer its testing technology as well. This week, for example, Indian clinical diagnostic testing company MedGenome said it had obtained an exclusive license from Natera to perform the Panorama test in India.

Also, Natera plans to launch a CE-marked IVD kit for Panorama this year, though it has not provided details yet. Natera has already obtained CE marking for its software, which supports several applications, including Panorama.

Another company working on a CE-marked IVD kit for NIPT is Manchester, UK-based Premaitha Health. The firm, which raised $12.3 million last year, is developing its Iona test on the Thermo Fisher Ion Proton sequencing platform and plans to market it to local clinical laboratories. Last month, Premaitha said it expects to receive the CE mark for the Iona test in January and to launch the test in the first quarter, initially in the EU.

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