The layout of the third -generation sequencing technology of Beiri genes is accelerated: continuously penetrating the rare disease screening, and many progress has been achieved within one year

Since 2019 and the third -generation sequencing device R & D and manufacturing enterprise Pacific Bioscience (referred to as "PACBIO") has reached long -term cooperation, to the third -generation technology -related patent that has been independently developed. At a very fast speed, the clinical transformation of the domestic three -generation sequencing technology expands one stage.

On June 13, Berry Gene issued an announcement saying that the subsidiary Beijing Beiri and Kangbi Biotechnology Co., Ltd. recently obtained a invention patent certificate issued by the State Intellectual Property Office.

The announcement shows that the patent is independently developed by the company. The invention involves a variety of mutations, kits, methods, and systems used to detect SMA (spinal muscle atrophy), which mainly includes the construction of a three -generation sequencing library, based on three -generation sequencing detection SMA Disease -related gene mutations.

It is worth noting that this is the third rare disease reached by the third -generation sequencing technology of Berry gene, and an important one is dropped in the layout of the company's birth defect.

Three -generation sequencing technology opens the prevention window, new rare disease testing products are released

On January 1 this year, the new version of the medical insurance catalog was officially implemented. The Nosina sodium sodium injection of SMA reduced from nearly 700,000 yuan to more than 30,000 yuan per needle, which aroused heated discussion in society. A window.

Like many rare diseases, SMA is an alternative hidden genetic disease (single -gene genetic disease). The motor neurons in the patient's spinal cord are affected and will gradually lose various motion functions including breathing and swallowing. As a result, severe genetic diseases of infants and young children under the age of two.

According to the "Consensus Expert of the Genetic Diagnostic Expert of Solid Myocular atrophy" released in 2020, the incidence of SMA is about 1/10000, and the group carrying rate is about 1/50. In other words, one of the pathogens of the pathogenic genes per 50, and 1 SMA patients per 10,000 people will not only bear high diagnosis and treatment costs, but also suffer huge physical and mental pain.

Although "the diagnosis of the disease" is the wish of every patient and doctor, in the face of rare diseases, with early screening and diagnosis, potential diseases are stifled in the cradle, which has great value and significance.

In June of this year, the National Health and Health Commission's capacity building and continuing education center intends to carry out the construction project of rare disease screening at the grassroots level. Facing the support areas of the national regions and rural rejuvenation provides free and standardized technical training and laboratory construction support in genetic screening such as rare diseases and chronic diseases; and the basic knowledge and screening significance of rare diseases for families with rare medical history of family Publicity, strengthening accurate information supply, providing targeted rare disease screening services, and improving the ability to identify and diagnose rare diseases.

In the same month, the three -generation SMA invention patent certificate obtained by Bearing genes made comprehensive and efficient SMA screening possible.

According to the information provided by Bearing genes, SMA is caused by the lack of the function of the pathogenic gene SMN1. Normal people contain two normal function SMN1 copies, and each chromosome contains a copy (1+1). There are three cases of SMA carriers, namely 91%to 94%of carriers have only one normal function SMN1 copy (1+0), 2%~ 5%carrier contains two SMN1 copies, but one of them contains the disease points point Mutation (1+1D), the other 4%carrier is a silent carrier, that is, there are two SMN1 copies, but they are located on the same chromosomal (2+0).

At present, domestic SMA carriers screening mainly uses QPCR, MLPA, and second -generation sequencing methods. Only 1+0 carriers can be detected. Therefore, the detection rate is only 91%to 94%. SMN1 is detected. The residual risk of the person is 1/1245 ~ 1/415.

The three -generation sequencing has comprehensive technical advantages such as ultra -long reading long, non -GC preferences, and complicated areas such as highly duplicate. Based on the PACBIO Sequel three -generation sequencing platform, Berry Gene has now developed a comprehensive SMA carrier screening (Casma) technology.

For the first time in the world, this technology has realized the high -efficiency three -generation HIFI sequencing of the SMN1 and SMN2 genes nearly 30kb for the first time. "2+0" carrying risk. It can greatly improve the genetic diagnosis and prognosis judgment of SMA patients, improve the efficiency of SMA newborn gene screening, and reduce the residual risk of SMA carriers by 4 to 5 times. Related research results have been received by international molecular diagnostic journal "Journal of Molecular Diagnostics".

Scientific research, hardware, and products make efforts in turn, and the layout of the three -generation sequencing technology step by step

In fact, this is no longer the first time that Berry genes has used three -generation sequencing technology in rare diseases.

In August 2021, the company launched the three -generation poverty test products. According to the clinical forward -looking research launched in July last year, 12 hospitals in 12 hospitals in the southern land in my country were included in 1759 cases of blood routine or hemoglobin detection positive clinical forward -looking samples, and and with After verification of gold standard methods such as SANGER sequencing, the test accuracy of the test accuracy of the three generations of land poverty in Berry gene was greater than 99.9%. For rare poverty poverty that failed to clear the reasons for conventional genetic testing methods, the three generations of land poverty can improve the diagnostic efficiency of 40%to 60%; for the fake positive and false negatives of traditional PCR and second -generation land poverty, the third generation of land poverty can also be used. authenticating. This product has irreplaceable advantages in improving the prevention and control efficiency of heavy land poverty, avoiding unnecessary prenatal diagnosis caused by error sieves, and clinical accurate genetic consulting.

Recently, the three generations of local poverty inspection test boxes have recently obtained registered ethical approval of medical device and entered the clinical trial stage.

In terms of congenital adrenal cortex hyperplasia, Berry Yin obtained the invention patent certificate of 9 genes and kits of 9 genes related to the "congenital adrenal hyperplasia (CAH) related nine genes related to the" Congenital adrenal hyperplasia (CAH). "

In September last year, Xingye Securities Research Report stated that Berry Gene is expected to rely on the test performance of the three generations of poverty and the achievement of the scale effects, and the cost of the three -generation sequencing has fallen in a large market share. After the poverty, the company is also expected to further develop three -level prevention and control testing products such as unique genetic diseases such as congenital adrenal cortical hyperplasia and spinal muscle atrophy.

In just one year, the progress of related products one by one further confirmed the high conversion speed of the three -generation sequencing detection technology of Bearing. According to Berry Gene, the company's layout in the third -generation sequencing in recent years follows the idea of ​​scientific research, hardware speed up, and product landing.

For example, on the basis of a large number of scientific research literatures in the third -generation sequencing technology, Bearer has carried out a number of heavy clinical research and achieved fruitful results in the field of three generations. Reach long -term cooperation. SEQUEL II CNDX, jointly developed by both parties, has entered the clinical trial stage of medical device registration. Earlier this year, Bearing and PACBIO joined hands with the development of three generations of desktop sequencers to serve China's clinical multi -level needs.

On the basis of the continuous improvement of hardware, Berry gene relies on the third -generation sequencing technology and takes a single genetic disease as the starting point. It is worth mentioning that these products are together with the company's other core products in response to the country's birth defects to provide powerful tools for the screening of genetic diseases.

For example, in response to SMA prevention, Bryuki has previously launched a screening product with Xin'an SMA carriers. Based on the innovative real -time quantitative PCR detection technology, by extracting 2ml peripheral blood, the No. 7 outsiders of SMN1 can be detected. Existence or lack has now become a wide range of detection methods for clinical SMA carriers.

For the future of the three generations of sequencing technology, Gao Yang, chairman and general manager of Berry Gene, are full of expectations. He said that from the current observation, China's clinical market has a high degree of acceptance of three -generation sequencing products. "In the future clinical scene, we hope that based on the three -generation sequencing to achieve the screening of all genetic diseases and the diagnosis of unclear diseases, we have developed a large number of genetic diagnosis and screening products suitable for the Chinese market, becoming a technical bridge between clinical and patients. "Wen/Li Jie

Daily Economic News

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