China News Service, Beijing, May 7 (Reporter Li Yanan) Data shows that there are about 300 million people in the world affected by rare diseases. There are more than 20 million patients with rare diseases in China, and more than 200,000 new patients are added each year. Experts reminded the public on the coming of "Mother's Day" that rare disease prevention and control strategies should be advanced, and recommended that couples who want children go to professional institutions for pre-pregnancy and pregnancy eugenics and genetic mutation screening to prevent birth from the source. defect.
"Rare diseases are those with a very low incidence. The United States defines diseases with fewer than 200,000 patients per year or less than 1/1500 of the disease population as rare diseases. Japan defines rare diseases as those with a disease incidence rate of less than 1/2500 of the disease. Taiwan, China, uses the incidence rate below 10,000 as the standard for rare diseases. "Professor Xu Jiawei, deputy director of the Reproductive and Genetics Hospital of the First Affiliated Hospital of Zhengzhou University and deputy director of the Henan Provincial Reproductive Center, said, More than 80% of rare diseases are related to genetic factors. Rare diseases are actually not rare, because the incidence rate of rare diseases is very low, but the combined incidence rate can reach 1%. Based on the population base of China, there are about 20 million rare disease groups.
Because of chronic and severe illness and torture, as well as long-term cost of diagnosis and treatment, patients and families with rare diseases are under huge financial and mental burden. Xu Jiawei pointed out that in recent years, relevant Chinese departments have attached great importance to patients with rare diseases. In 2018, the "First Rare Diseases Catalog" containing 121 diseases was introduced. In 2019, a national rare disease diagnosis and treatment collaboration network will be established to improve the diagnosis and treatment of rare diseases. However, due to the dilemma of "drug shortage", difficult diagnosis and treatment, and high cost of treatment, diagnosis and treatment of rare diseases has always been an international problem. Therefore, it is very important to advance the prevention and control strategy of rare diseases.
Xu Jiawei said that normal people are likely to carry 2 to 3 defective genes, generally do not develop disease, but if both husband and wife carry the defective gene, it may give birth to a sick child, so it is recommended that couples who want a child are necessary before pregnancy Go to a professional institution for prenatal and prenatal pregnancy screening and genetic mutation screening.
According to reports, the current prevention and control of birth defects in China is divided into three levels: primary prevention is mainly to prevent occurrence before pregnancy and reduce the rate of birth defects; secondary prevention is to avoid the birth of fetal birth defects during pregnancy and reduce some birth defect rates; tertiary Prevention is early screening and diagnosis after birth to avoid severe disability and reduce disease burden. A lot of work is now focused on tertiary prevention.
However, with the widespread application of sequencing technology in the field of genetic diseases, the techniques for primary prevention and secondary prevention of birth defects (rare diseases) are becoming more mature. To prevent the occurrence of "tragedy" from the source, it is necessary to move forward and conduct extensive pre-pregnancy screening for genetic diseases-pre-implantation diagnosis or implementation of prenatal diagnosis to reduce or even prevent the occurrence of some rare diseases. Primary prevention specifically refers to children who have had rare diseases at home. If the clinical diagnosis and genetic diagnosis are consistent, the third-generation IVF technique can be considered to combine sperm and eggs in vitro to select embryos that are not disease-causing; there is no rare disease Families with a medical history can choose to carry carrier screening.
"We have encountered many families with rare diseases in the clinic. The parents are very healthy, but they have two children with rare diseases. This situation can be screened by pre-pregnancy genes and then blocked by reproduction-the third generation of IVF Technology helps them to give birth to healthy babies. "Xu Jiawei said that some families have children with rare diseases, think they have a certain curse, and even resort to superstitious activities, these are undesirable. Now that medical technology is developed, we can seek to cut off the transmission of gene mutations in the family through reproductive blocking technology and make changes from the source. (Finish)