Release date: 2014-05-28
As the high-throughput sequencing market continues to be hot, its important applications of non-invasive prenatal screening are increasingly sought after by the market. China's regulatory authorities have also adopted positive measures to regulate the entire market. In February this year, China Food and Drug Administration and the National Health and Family Planning Commission jointly issued the "Notice on Strengthening the Management of Products and Technologies Related to Clinical Use of Gene Sequencing". . However, just one month later, the National Health and Family Planning Commission issued the “Notice on the Application of the High-throughput Gene Sequencing Technology Clinical Application Pilot Unitâ€, hoping to standardize and explore non-invasive prenatal screening in the clinical form through pilots. Applications. Looking back at the history of the NIPT market, China's NIPT market has experienced a journey from the popular civil society to the government's suspension to the pilot specification, showing its increasingly reasonable and legitimate development track. China's NIPT market continues to heat up, people can't help but want to ask foreign applications and development in this field? Below we will detail some aspects of the foreign NIPT market.
US and European NIPT market conditions
In the United States, the NIPT market is mainly covered by four companies, Sequenom, Verinata Health (acquired by Illumina in 2013), and Ariosa Diagnostics and Natera's corresponding NIPT products are also marketed at the end of 2011 to the end of 2012 [1]. During this period, the NIPT commercialization model officially kicked off.
From the perspective of detection technology, companies providing NIPT services are mainly divided into two categories: 1) Sequenom and Verinata using high-throughput whole-genome sequencing to detect samples, and 2) targeted region sequencing for chromosomes. Ariosa and Natera for ploidy analysis. Due to the different segment sizes selected for chromosome polyploidy analysis, the amount of sequencing data required is not the same. The detection products provided by Sequenom and Verinata using high-throughput whole-genome sequencing methods require a relatively large amount of sequencing data, and the number of Reads required for each sample needs to reach more than 13 million [2,3]. In his research, Christina Fan described “Using high-throughput whole-genome sequencing for NIPT detection. The sensitivity and accuracy of the assay is directly related to the amount of data. It is recommended to use data with a read number greater than 10M for detection and analysis†[4]. Ariosa and Natera, which obtain ploidy information by targeting regional information, require relatively little sequencing throughput, which requires sequencing sequences of 1.1 M and 6.5 M, respectively [5,6]. In the selection of sequencing platforms, these companies have chosen the HiSeq2000 (Illumina) sequencing platform with high throughput and low cost of sequencing [2, 7, 8, 9]. Regardless of the technical route, all four companies have verified the credibility of their test results and reported high-confidence test results ranging from hundreds to thousands in the corresponding academic journals. 1) [2, 3, 7, 8, 10, 11]. In the inspection cycle, except for Natera, which takes 15 days, all three other companies need 8-10 days to complete the test [1].
From a regulatory perspective, all four companies have been certified by CAP (American Society of Pathologists) and CLIA (Clinical Laboratory Improvement Amendments), and Sequenom and Verineta plan to submit IVD (in vitro diagnostic products), PMA (pre-marketing) Approved management) application [1]. In addition, illumina is planning to submit a HiSeq 2500 NIPT test kit to the FDA at the end of this year after obtaining FDA approval from MiSeqDx [12]. If approved, it will be of great significance for the establishment and improvement of the entire industry standard.
In terms of payment, most NIPT testing companies in the United States use two methods, either at their own expense or in the form of personal and insurance contributions. The fees that individuals pay at their own expense range from $295 to $1,700. NIPT Service Company of the United States actively seeks to cooperate with insurance companies [1], Genomeweb reported on February 19 this year: Verinata has received 130 million insurance contracts in the United States, and Sequenom has also received insurance contracts of 113 million. ].
In Europe, the NIPT market is dominated by a company, LifeCodexx [14]. The company is the only company to receive the European NIPT IVDD (In Vitro Diagnostic Directive) certification. The company collaborated with Sequenom, and the technology route adopted Sequenom's high-throughput whole-genome sequencing method. The single-sample test data volume reached 10-30M [15], and the test cost required 985 euros.
Table 1: Overview of foreign NIPT companies
Note: CLIA, Clinical Laboratory Improvement Amendment; CAP, American Society of Pathologists; IVD, in vitro diagnostic products; IVDD, in vitro diagnostic instructions (Europe); PMA, premarketing approval management; SNP, single nucleotide polymorphism .
China's NIPT market conditions
China's NIPT market is dominated by two companies, namely BGI and Berry and Kang. The detection products have been listed since the end of 2012. The detection technology route adopted is a high-throughput whole-genome sequencing method, and the corresponding literature also reports on its technical route. Among them, BGI tested 11263 samples and completed detection with GAIIx and HiSeq2000 [18]. During the detection process, one sample of HiSeq2000 detected 12 samples, and the data volume of a single sample was about 15M. Berry and Kang conducted two clinical trials, the first phase completed 435 samples [19], and the second phase completed 1916 samples [20]. The technical route and the amount of sequencing data are similar to those of BGI. High-throughput whole-genome sequencing is also used, and 12 pairs of samples are detected using a Lane on the HiSeq2000 platform. At the beginning of this year, Aijian Biotech's Aijian Biotech used Themo Fisher's Proton sequencing platform to complete the pre-sample test. In its corresponding research paper, it was mentioned that 2275 samples have been tested [21], and the needs of each sample The amount of data is about 5.6M reads.
Regarding the detection price, the domestic NIPT sample testing terminal price is 280-560 US dollars [22], different companies and different regions will be slightly different. As far as the regulatory situation is concerned, China's NIPT market is in the process of increasing market standardization. With the gradual opening of the pilot application, China's NIPT industry will usher in explosive growth. Some media also pointed out that BGI is using the Complete genomes and Ion Proton platform for domestic SFDA applications, and hopes to obtain approval through the acquisition of foreign companies and OEM. The other two companies, Berry and Kang and Aijian Bio, sought to work with Illumina and Themo Fisher to obtain regulatory approvals [23].
Table 2: Overview of China's NIPT market situation
*Based on its official publication of non-invasive prenatal diagnostic papers and the sequencing platform used in the paper
Source: Illumina
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