专家表示,在国际公认的罕见病中,大多数为遗传性疾病,近一半的罕见病会在出生时或者儿童期发病。基因检测被认为是确诊罕见病的重要方法之一。遗传性疾病作为罕见病的主要形式,给患者及家属的生活带来沉重负担。及时确诊和采取有效治疗对改善生存质量至关重要。基因检测可助力医生明确诊断,指导后续用药方案。当前,我国罕见病防治体系建设还不完善,缺乏系统性登记报告制度,致使部分罕见病患者医疗需求得不到满足。完善相关政策,加强基础设施建设,为罕见病患者提供及时、规范、适宜的诊疗,是当前我国罕见病防治的当务之急。
Title: Genetic diseases become the main form of rare diseases
Keywords: Genetic diseases, Gene testing, Childhood onset
News content: Experts said that among internationally recognized rare diseases, most are genetic diseases, and nearly half of rare diseases occur at birth or in childhood. Gene testing is considered one of the important methods for diagnosing rare diseases. As the main form of rare diseases, genetic diseases bring a heavy burden on the lives of patients and their families. Timely diagnosis and effective treatment are crucial to improving the quality of survival. Gene testing can assist doctors in making a clear diagnosis and guide subsequent medication regimens. Currently, China’s rare disease prevention and control system is still not perfect, lacking a systematic registration and reporting system, resulting in some rare disease patients’ medical needs being unmet. Improving relevant policies, strengthening infrastructure construction, and providing timely, standardized and appropriate diagnosis and treatment for patients with rare diseases are the top priorities for China’s current rare disease prevention and control.
【来源】http://www.chinanews.com/sh/2024/02-28/10171511.shtml
Views: 1