Rare diseases are a general term for a large category of diseases with extremely low incidence rates, often leading to individual disability, decreased quality of life, and other adverse outcomes, placing a burden on society. Currently, there are over 10,000 known rare diseases, about 80% of which are caused by genetic defects, with only 10% having effective treatments. Although rare diseases have low incidence rates, there are many types of diseases. It is estimated that there are at least over 20 million patients with rare diseases in China.

　　In the face of the challenge of hereditary rare diseases, Changsha City took the lead in the country in innovatively implementing the "Comprehensive Prevention and Control Health and Livelihood Project for Hereditary Rare Diseases." CITIC Medical Group's CITIC Xiangya Reproductive and Genetic Specialty Hospital is one of the main undertaking units. Through comprehensive measures such as family investigation, genetic counseling, and testing, the incidence of hereditary rare diseases has been successfully reduced, saving a large amount of social and economic costs. Participants have responded positively, and there is strong support from all sectors of society.

　　As of February 29, 2024, the project has accumulated 129,659 family investigations, with 1,057 families ultimately testing positive for genetic testing (524 families with chromosomal diseases and 533 families with monogenic diseases). The positive rate of genetic testing in all participating families is approximately 8.2‰, and 626 births of children with hereditary rare diseases have been avoided, saving the society and families economic burdens of 188 million yuan.

　　Through the livelihood project screening, the top 10 monogenic diseases and the number of families in Changsha are: hereditary deafness (64 families), muscular dystrophy (28 families), ichthyosis (22 families), polycystic kidney disease (21 families), hemophilia (17 families), hereditary intellectual disability (15 families), neurofibromatosis (14 families), spinal muscular atrophy (12 families), osteogenesis imperfecta (10 families), and hepatolenticular degeneration (8 families).

　　The project has established a new comprehensive prevention and control system, the "Changsha Model," which integrates "health education, family investigation, genetic counseling, genetic testing, risk assessment, and reproductive guidance and intervention." Since its implementation, it has been recognized by the Hunan Provincial Health Commission, the Changsha Municipal Health Commission, and various rare disease alliance units, providing valuable experience for other regions to carry out rare disease prevention and control work, helping to improve the overall health level and achieve the goal of a healthy China.

　　Introduction to the Birth Defect Relief Project

　　Birth defects refer to organ structural, functional, metabolic disorders, and mental and behavioral abnormalities caused by the combined effects of genetic and environmental factors. Some abnormalities can be detected at birth, while others may only gradually manifest after birth, sometimes even years later. Birth defects are a general term for a group of diseases, and at least 8,000 to 10,000 types are currently known.

　　Functional birth defects are a major category of birth defects, including intractable epilepsy, congenital deafness, non-Hodgkin lymphoma, Hodgkin lymphoma, and common congenital developmental abnormalities. With the continuous advancement of medical technology, the survival and quality of life of patients with most common diseases can be improved through treatment.

　　In order to comprehensively strengthen the prevention and control of birth defects, reduce disability caused by birth defects, and guarantee the implementation of optimized reproductive policies, with the support of central special lottery public welfare funds, the China Birth Defects Intervention and Relief Foundation implements the birth defects relief project nationwide, providing medical expense subsidies to economically disadvantaged families with functional birth defects, and alleviating the medical burden on children's families.

　　In June 2023, our hospital became a functional birth defect treatment unit. So far, 16 children have participated in this project. After review, 9 families meet the inclusion criteria. We have applied for relief funds for 4 children (a total of 20,000 yuan), of which one child has received 5,000 yuan in relief funds. Another 5 families have undergone genetic testing and are currently awaiting results. Each child can apply for this project up to 4 times, and the relief funds shall not exceed 20,000 yuan.