Recently, the Academic Forum on Precision Prevention and Control of Pediatric Birth Defect Intervention Professional Committee of the Neonatal Physician Branch of the Chinese Medical Association, and the Professional Group of the Neonatal Physician Branch of the Guangdong Medical Association, and the Professional Group of the Biological Defects, Genetic Metabolism and Endocrinology of the Neonatal Physician Branch of the Chinese Medical Association, and the Professional Group of the Biological Defects, Genetic Metabolism and Endocrinology of the Neonatal Physician Branch of the Chinese Medical Association, and the Academic Forum on Precision Prevention and Control of Pediatricians and Days with Genetics Academic Salon was held, and the "Thousand Doctors and Thousand Inquiries" - a Training Plan for Thousands of Clinical Genetic Pediatricians was released.
"This plan aims to discover more excellent clinical genetic pediatricians nationwide, and improve the overall diagnosis and treatment level of clinical genetic pediatricians through case discussions, multidisciplinary consultations, scientific research collaboration, genetic consultation training and other activities." Wang Bin, the project leader and director of the Pediatric Center of Zhujiang Hospital, Southern Medical University, introduced: "Our training will adopt pre-training assessments, teaching basic and clinical genetic knowledge through training, and clinical diseases through clinical diseases. The submission and review guidance of the case, and through layered assessments, we will eventually train a group of excellent clinical genetic pediatricians within 3 years, and the corresponding certificate will be issued. Provide basic genetic data for birth defect prevention and control and healthy China, and cultivate more high-quality pediatrician talents. "
group prevention and control of birth defects, healthy China, you and I will work with healthy China,
, reduce birth defects, the key is prevention. The World Health Organization (WHO) proposed a "three-level prevention" strategy for the intervention of birth defects: primary prevention is a comprehensive intervention in the pre-pregnancy and early pregnancy (also known as peri-pregnancy ); secondary prevention refers to identifying severe birth defects in the fetus through pregnancy screening and prenatal diagnosis, early detection, early intervention, and reducing the birth of defective babies; tertiary prevention refers to early screening, early diagnosis, timely treatment, avoiding or reducing disability, and improving the quality of life of children. Among them, primary prevention cannot be ignored. Screening of genomic diseases before or early pregnancy, and promptly discover the risks of giving birth to children. In combination with genetic consultation, prenatal testing or diagnosis, assisted reproduction and other measures, the transmission of genomic disease genes can be fundamentally blocked, which can effectively prevent the first occurrence of serious genomic diseases. Secondary prevention cannot be ignored, especially for couples who have unexpected pregnancy, which requires more pregnancy screening and prenatal diagnosis. The detection of prenatal genomic diseases can promptly detect the risk of giving birth to children for couples with abnormal screening during pregnancy. Combined with genetic counseling and other measures, it can prevent the occurrence of serious genomic diseases. For children with birth defects, the cause of the disease should be identified, early treatment should be taken, disability should be avoided or reduced, and the quality of life of the children should be improved. This is also the goal of third-level prevention and control of birth defects.
Birth defect refers to abnormal body structure, function or metabolic abnormalities occurring before birth of a baby. It is the main cause of early miscarriage, stillbirth, infant death and congenital disability. Genetic factors contribute 60%-70% to birth defects.
The key role of pediatricians in the prevention and treatment of birth defects
The third line of defense for the prevention of birth defects is defended by clinical genetic pediatricians, so they shoulder important responsibilities. They must not only distinguish the symptoms and signs of the sick child from a clinical perspective and also explore the fundamental causes of the disease from a genetic perspective. Pediatricians should clarify the cause of the disease as soon as possible for children with birth defects, treat them as soon as possible, and avoid or reduce disability, so as to improve the quality of life of the children, save the children's lives or reduce the incidence of adverse disease outcomes. This is also the goal of third-level prevention and control of birth defects. The significance of third-level birth defect prevention and control lies in ① confirming the genetic cause of the diseased child; ② Using this as a guide for reproduction of the patient's relatives, promoting the prevention and control of second-level birth defects; ③ Accumulating evidence and data on disease pathogenesis is conducive to guiding the prevention and control of first-level birth defects and providing a chain of disease evidence for pre-pregnancy/premarital screening. It can be seen that doing a good job in preventing and controlling third-level birth defects is the fundamental and leading entry point for implementing the national third-level birth defect prevention and control.
The current problem is that the condition of genetic diseases in neonatal/infant period is often complex and changeable, critical and urgent, with many non-specific symptoms, or the clinical manifestations are different from older children. Traditional clinical diagnosis methods are often prone to missed judgments and misjudgments, and more and more studies have shown that genetic examinations, including genomic technology, can be more effective than traditional clinical and laboratory methods. The rapid development of genomic diagnostic technology has promoted the etiology of clinical medicine and put forward higher requirements for clinical pediatricians on the front line of birth defect prevention and control.
Pediatricians have huge demand for systematic training in clinical genetics
Internationally, there are very strict requirements for people engaged in clinical genetic diagnosis. They need to obtain a doctorate degree (a doctorate degree graduate from medical school) before they can enter 2-3 years of clinical specialist training. After rigorous training and meeting the requirements, they finally pass the strict national unified license assessment and obtain the relevant clinical genetic specialist license before they are qualified to carry out clinical genetic work. Clinical genetic physicians must undergo clinical medical education in the medical school and pass the graduation examination and obtain an clinician license. After 2 years of clinical genetic training, they can only obtain a clinical genetic physician license after passing the examination.
Our country's clinical genetic discipline construction started relatively late, so talent training in this area depends largely on the personal interests and additional investment of doctors.
It is reported. "Thousand Doctors and Thousand Inquiries" - The Thousand Clinical Genetic Pediatrician Training Program will train 1,000 excellent clinical genetic pediatricians within 3 years. Any pediatrician with a clinical physician license can register to participate and select through pre-training assessment, offline centralized training, online course review, clinical case discussion and review, and various forms of assessment methods. All participants can work together to divide the work and jointly apply for research projects to share scientific research results; for outstanding personnel or units, providing qualified case materials, they can jointly compile "Child Controlled Genomic Disease Genetic Consultation - Based on Clinical Cases" and publish it.
