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Noninvasive Prenatal Testing Diversifies in 2015, Migrates Toward Average-Risk Market


NEW YORK (GenomeWeb) – Noninvasive prenatal testing diversified significantly in 2015 as the number of laboratories offering blood tests for fetal chromosomal aneuploidies locally increased and some providers started to shift away from next-gen sequencing-based technology.

In the US, last year also brought a shift in focus from the high-risk to the average-risk pregnancy market for NIPT. While professional societies stopped short of recommending NIPT for all women, they no longer put a risk restriction on the test. In the meantime, some payors in the US have started to pick up the tab for average-risk NIPT, a trend that will likely continue, and several vendors have said they plan to focus on the average-risk market going forward.

Illumina and Sequenom's decision in late 2014 to pool their intellectual property around noninvasive prenatal testing and license it to third parties, rather than provide NIPT as a centralized service from their own laboratories, triggered a jump in the number of providers offering NIPT assays both in the US and abroad.

According to Sequenom, 36 parties had licensed the patent pool as of last fall, and 12 had developed their own NIPT assays. One of the more prominent players entering the NIPT market last year was Quest Diagnostics, which launched its QNatal Advanced test last spring to replace Sequenom's MaterniT21 Plus.

Among the more recent licensees is Counsyl, which said last summer that it was developing its own NIPT, called Informed Pregnancy Screen. Counsyl said the test would be technically nearly identical to Illumina's Verifi initially and differ from other NIPTs by including a positive predictive value in its report.

Illumina in particular has been benefitting from the transfer of its NIPT technology to other providers, saying last fall that sales of its NextSeq sequencer for NIPT grew 60 percent in the third quarter, particularly in China, where the Chinese Food and Drug Administration early last year approved a NIPT assay along with an instrument called the NextSeq CN500, which Illumina developed in partnership with Berry Genomics.

Berry Genomics and BGI remain the largest providers of NIPT in China at present, but several smaller providers have already joined them, and others, including Ariosa, are expected to follow suit this year in an effort to conquer a largely untapped market that promises further growth with the end of China's one-child policy.

Illumina and Sequenom were not the only ones to expand their NIPT technology beyond their own labs last year. Roche's Ariosa Diagnostics started licensing its Harmony test to providers in Europe last spring, including Cenata in Germany, which began offering the test to patients in May. In the fall, Ariosa also licensed the Harmony technology to Sonic Healthcare, which plans to make it available in Australia and the UK.

Likewise, Natera licensed its Panorama test to a number of outside laboratories. LifeLabs Medical Laboratory Services of Canada, for example, said in November that it now offers Panorama from its Toronto laboratory, and India's MedGenome, which licensed the Panorama technology in early 2015, said last month that it now provides the test from its Bangalore laboratory.

In addition, a number of NIPT providers came onto the scene last year that developed their tests independently of Sequenom, Illumina, Natera, or Ariosa.

Early in 2015, UK-based Premaitha Health obtained the CE mark for its Iona test, the first NIPT to obtain the designation, and subsequently installed the test in laboratories in the UK, Switzerland, and Poland, in addition to agreements with labs in Chile, France, and Greece to use Iona. Premaitha has not licensed Sequenom and Illumina's patent pool and was promptly sued by Illumina for allegedly infringing its patents. Premaitha's test runs on Thermo Fisher Scientific's Ion Proton platform, and Thermo provided the company with a £5 million ($7.6 million) loan last month.

Multiplicom of Belgium received CE marking for its NIPT, called Clarigo, last fall following a multi-center study but has not announced sales of the test to laboratories yet. Clarigo relies on the company's proprietary multiplex PCR technology, coupled with next-generation sequencing.

Another newcomer last year was NIPD Genetics of Cyprus. The firm last summer launched its Veracity test, which uses targeted capture sequences and has been validated on Illumina sequencing platforms. The company currently offers it as a service, mainly in Europe and in the Middle East, and plans to expand it to other regions.

This year, the number of NIPT providers may increase further. UK-based Oxford Gene Technologies, for example, said last summer that it is developing an NIPT assay, which it plans to launch in early 2016 after obtaining CE marking. In the US, Good Start Genetics said last spring that it had expanded a licensing agreement with Johns Hopkins University to include NIPT applications, but has not yet revealed plans for a test launch.

In addition to the number of NIPTs growing, their underlying test technology has diversified, with a shift towards lower-cost platforms. Roche's Ariosa was the first to step back from next-generation sequencing when it ported its Harmony test to a microarray platform. In November, the company published a study showing that the clinical performance of the array-based test is on par with the previous NGS-based version. Likewise, Oxford Gene Technology's proposed NIPT will run on a microarray platform.

Meanwhile, LifeCodexx of Germany, which has been offering its NGS-based PrenaTest since 2012, has been working on a qPCR-based version of the test, for which it is seeking CE marking.

While competition in the NIPT market has heated up, several of the established US providers have added new tests to their portfolio and started to turn their attention to the average-risk pregnancy market.

Sequenom said last fall that sales of its MaterniT21 Plus test, which it has marketed mainly to maternal fetal medicine specialists, suffered from the increased competition, and that the firm would concentrate more on its narrower VisibiliT test going forward, which is geared at the average-risk market and has been available in the US since early 2015. Sequenom also launched a new NIPT last year, called MaterniT Genome, that looks for any chromosomal abnormalities larger than 7 megabases.

Natera, which went public in a $180 million IPO last year, said in November that it also plans to focus on the average-risk market, but with its existing Panorama test rather than a new offering.

Illumina, for its part, said last fall that it expects to obtain the CE mark for its VeriSeq NIPT in early 2016. The test, which it first announced a year ago, runs on the NextSeq platform.

Overall, providers seem encouraged by the increase in health insurance coverage in the US for average-risk NIPT over the last year. According to a research note published by Piper Jaffray analyst William Quirk this week, 20 payors, almost all members of the Blue Cross Blue Shield Association, currently cover NIPT for average-risk pregnancies, totaling almost 70 million covered lives.

US insurers have started to cover NIPT for average-risk groups even though this use has not been fully endorsed by professional societies. Last June, the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine released a committee opinion stating that conventional screening methods remain the most appropriate choice for most women in the general population. However, the organizations also said that patients of any risk group may choose NIPT, a departure from an earlier position that advised against offering cell-free DNA testing to low-risk women. Recommendations made in a joint statement by the European Society of Human Genetics and the American Society of Human Genetics last March did not address the use of NIPT in different risk groups.