Analysis of the status of newborn genetic testing

I. Current status of genetic diseases in newborns in China

With the advancement of society, birth defects have become the main cause of disability and even death among Chinese children. According to the "China Birth Defect Prevention Report (2012)" data, China is a country with high birth defects, with an annual increase of 900,000 cases of birth defects, including more than 130,000 congenital heart diseases and about 18,000 cases of neural tube defects. Screening, treatment and prevention of birth defects are imminent.

The genetic testing of newborns in China has begun to gradually develop, but due to the limitations of population and geographical environment, it is still in its infancy. Screening for neonatal diseases is based on the "Implementation Measures for the Maternal and Infant Health Care Law of the People's Republic of China" and the National Health and Family Planning Committee's "Administrative Measures for Screening Newborn Diseases". In the neonatal period, it is congenital and genetically harmful to the health of newborns. The special examinations for sexually transmitted diseases have the purpose of achieving early diagnosis and early treatment, and are of great significance in preventing disability, reducing birth defects and improving the quality of the birth population. At present, the state has initiated the implementation of free pre-pregnancy eugenics health checkups, supplementation of folic acid to prevent neural tube defects, prevention and control of thalassemia, screening of neonatal diseases in poverty-stricken areas, and other major public health projects, and extensively carry out social publicity and health education on birth defects prevention, and gradually The treatment of birth defects such as congenital heart disease in children is included in the prevention of major illnesses, and efforts are made to promote the comprehensive prevention and treatment of birth defects, and the incidence of birth defects such as neural tube defects and thalassemia major is significantly reduced. However, from a holistic perspective, there is still a large gap between the ability to prevent birth defects and the growing eugenic needs of the masses, and there is a long way to go to prevent and treat birth defects.

There are many types of genetic testing for newborns, including hearing screening and genetic metabolism screening. China's "Mother and Infant Health Care Law" clearly states that newborn screening diseases include: genetic metabolic disease screening, hearing screening, screening for retinopathy of prematurity, screening for neonatal immunodeficiency disease, screening for congenital heart disease Developmental screening for developmental dysplasia and drug abuse screening, including phenylketonuria and congenital hypothyroidism and neonatal hearing screening.

In order to improve the quality of the birth population and the health of children, and reduce the social and economic burden, China has introduced a series of policies to promote newborn screening. In the 2018 National Health and Health Commission No. 19, "Notice on Printing and Distributing the National Comprehensive Prevention and Treatment Plan for Birth Defects" clearly states that by 2022, the screening rate of neonatal genetic metabolic diseases will reach 98%, and the hearing screening rate of newborns will reach 90%; the treatment rate of confirmed cases reached 80%. Serious birth defects such as congenital heart disease, Down's syndrome, deafness, neural tube defects, and thalassemia are effectively controlled.

In addition, in the construction of local testing institutions, at least one medical institution approved for prenatal diagnostic technology, one neonatal genetic metabolic disease screening center, and one newborn hearing screening center; Where conditions permit, a diagnostic center for neonatal genetic metabolic diseases and a diagnostic center for neonatal hearing impairment should be established.

Second, the development status of neonatal genetic testing

For the screening of neonatal genetic diseases, genetic testing has obvious advantages over traditional detection, which are manifested in the following aspects: 1 traditional screening techniques screen fewer diseases, and genetic testing technology can screen thousands of genetic diseases at a time. 2 Gene detection technology is applied to neonatal disease screening. When the newborn is born, blood samples can be used to collect cord blood. There is no need to wait for the newborn to be born 72 hours after birth, and the traditional screening technique is innovative. Blood, and genetic testing is non-invasive blood; 3 traditional screening technology screening results show positive, need to take another newborn heel blood, the second is still positive, need to carry out genetic testing; if directly selected genes after birth The detection can be done in one step, and the screening price is also small. 4 The traditional screening technique detects the production of metabolites in the blood of newborns. The test results are susceptible to physiological conditions, while the genetic test is genetically detected. High sex, no need for repeated testing.

At present, China's newborn genetic screening has achieved phased results. In April 2012, Beijing took the lead in carrying out genetic screening for neonatal hereditary deafness and became the first city in the world to achieve genetic screening for neonatal deafness. Based on its demonstration effect, nearly 20 provinces and municipalities in Chengdu, Zhengzhou, Fuzhou, Taiyuan, Nantong, Dongguan, Jinan, Xinjiang, etc. also included free screening of neonatal hereditary deafness genes for private labor and livelihood projects, with an average investment of 1 per capita. The yuan can get social and economic benefits of 7.27 yuan. By the end of 2018, the number of newborns receiving genetic hereditary deafness screening in the country exceeded 3.2 million, and the total mutation rate was 4.4%. Among them, there were more than 8,400 drug-induced gene carriers, avoiding more than 80,000 inspections. And family members are deaf due to improper use of drugs.

The genetic testing industry for neonatal genetic diseases in China has been further developed, mainly due to the strong support of the industry for the policy and the huge demand for neonatal testing in China. According to the Flint Database, dozens of genetic testing companies have been actively deploying screening for neonatal genetic diseases. Including China's genetic testing head enterprises: Nuohe Zhiyuan, Berry Gene, Huada Gene, Daan Gene, Boao Bio, Mingmao Bio, and also have Jingfang Biological, Zhongke Jinyu Biological and other companies.

Third, neonatal genetic disease genetic screening enterprise development opportunities

For newly established companies, we should grasp the state's policy opportunities in newborn screening, and actively deploy corresponding testing centers in provinces and cities, and gradually expand the scope of business with points as the starting point.

For the head enterprises, they should actively cooperate with government health agencies to strive for local policies, increase the accumulation of data while genetic testing, increase investment in the interpretation of genetic data, and explore the relationship between genes and diseases. Find more opportunities.