NEW YORK (GenomeWeb) – With almost 17 million live births in 2014, China is already one of the largest potential markets for prenatal diagnostics, including noninvasive testing of fetal DNA in the mother's blood to detect fetal chromosomal defects. With the announcement by the Communist Party of China in late October to replace the country's longstanding one-child policy with a two-child policy, the Chinese NIPT market is poised to grow even further over the next few years, and several test providers stand to gain from the expansion.
Only about 5 to 6 percent of women in China, mostly in urban areas, currently obtain NIPT, according to industry experts, but their number is predicted to increase quickly in coming years. "We expect the field to grow dramatically, with a lot of new players entering the market," Jing jing Zhao, marketing director for Berry Genomics, told GenomeWeb.
BGI and Berry Genomics currently dominate the Chinese NIPT market. BGI expects to provide around 400,000 of its NIFTY tests in 2015, and Berry close to 300,000 of its Bambni tests.
A growing number of smaller providers exist, such as Annoroad, Yikon Genomics, and Xcelom, and new players are mulling entering the market, among them Roche's Ariosa Diagnostics. "Yes, we are interested, and our Roche China affiliate is leading this effort," Dave Mullarkey, Ariosa's chief operating officer, told GenomeWeb. Ariosa's Harmony test is not available in China yet, he added, because it has not been approved by the Chinese Food and Drug Administration. Unlike most other NIPTs, it runs on a microarray platform instead of a sequencing instrument.
BGI's NIFTY, which looks for fetal trisomies 21, 18, and 13, runs on three different next-generation sequencing platforms: BGISEQ-100, which is based on Thermo Fisher Scientific's Ion Torrent platform, and BGISEQ-1000 and BGISEQ-500, both built on Complete Genomics' sequencing technology.
The CFDA approved two of the platforms — BGISEQ-100 and BGISEQ-1000 — along with the test in 2014, and BGI said it plans to register BGISEQ-500, its recently launched desktop sequencer, with the CFDA as well.
BGI currently conducts NIFTY at four central laboratories in Shenzhen, Wuhan, Tianjing, and Hong Kong, according to Bicheng Yang, director of communication and public engagement at BGI, but it is also establishing joint next-gen sequencing laboratories with collaborators "to promote better access to NIPT."
Going forward, testing will become more automated and scaled, Yang said. "NIPT will cover more conditions and cost less, [and] turnaround time will be shortened."
Berry Genomics' Bambni test focuses on fetal trisomies 21, 18, and 13, as well, although the company has added 11 disorders to the test at its subsidiary in Hong Kong and plans to add more diseases in mainland China in the near future, Zhao said.
Bambni runs exclusively on the NextSeq CN500, which the CFDA approved earlier this year with the NIPT kit. Berry developed the instrument, which uses Illumina sequencing technology, in collaboration with Illumina for the Chinese market.
Since the CFDA approval, Berry has switched from offering the test through a centralized reference laboratory to an IVD model, and the test is now mostly offered by hospital laboratories conducting it in house, Zhao said.
Noninvasive prenatal testing is currently largely self-paid in China, though, according to Yang, local governments cover part of the cost in some cities, such as Shenzhen. Prices for NIPT vary by region, but Zhao said that patients pay approximately $400 out of pocket for Berry's test.
Some players in the Chinese clinical DNA testing market predict that coverage may pick up once prices drop. If NIPT comes down to under $100 or so, "we should see the wealthy municipal and provincial governments buy the service to cover all the families in their territories," said Mao Mao, senior vice president of translational bioscience and diagnostics at WuXi AppTec in Shanghai, which currently does not offer NIPT but is developing NGS-based clinical diagnostics in other areas, in particular oncology.
Predictions about the effects of the new two-child policy differ between providers. According to Berry's Zhao, around 3 million additional births per year are expected, starting in 2017. While the new policy "will definitely have a positive impact on Berry Genomics' NIPT business," Zhao said, "at this early stage, it is hard to estimate the numbers."
BGI's Yang, on the other hand, said experts are predicting 5.7 million additional births in 2016, and 5.8 million in 2017, followed by a gradual decrease after that. As a result of the new births, "we expect an increase of hundreds of thousands of tests," Yang said.
According to Mao, one of the main changes to come will be a shift from NIPT being offered as a centralized service to being offered locally by hospital laboratories, which will require further automation of the instrumentation. "Only automation can overcome the technical hurdles to run the boxes in hospital labs, which will be just like how blood chemistry tests are run there today," he said.