罕见病诊疗现状及发展展望

Current Status and Future Prospects of Diagnosis and Treatment for Rare Diseases

摘要: 随着分子诊断技术的发展，疾病精准诊疗取得重大进展。罕见病是对分子诊断依赖较大的一类疾病，尽管其患病率低，但由于病种繁多，累积发病人数仍然庞大。目前，受医疗技术、医生经验、患者意识及经济水平等因素的影响，罕见病患者在诊治过程中仍面临较多困境。但随着技术的进步，分子诊断效率的提高，罕见病的早期诊断和个体化治疗有了希望。同时，基因编辑等新兴治疗策略的发展也为罕见病患者带来了更多治疗机会。我们期待未来罕见病研究的深入，疾病治疗的创新以及全球合作的加强，以提高罕见病的诊断率和治疗效果，减轻患者和社会的负担。本文综述了当前罕见病诊疗的现状，并总结了对未来的展望。

Abstract: With the evolution of molecular diagnostic technologies, there has been a significant leap forward in the precision diagnosis and treatment of diseases. Rare diseases, which exhibit a high dependency on molecular diagnostics. Despite their relatively low prevalence, the extensive variety of these diseases results in a considerable overall number of individuals affected. Currently, the management of rare diseases is complicated by factors such as medical technological advancements, physician expertise, patient awareness, and socioeconomic status, leading to numerous challenges in the diagnostic and therapeutic journey of these patients. However, with technological advancements and improvements in the efficiency of molecular diagnostics, there is newfound hope for the early detection and personalized management of rare diseases. Additionally, the development of innovative therapeutic strategies, including gene editing, has expanded the therapeutic possibilities for patients suffering from rare diseases. The anticipation is for a deepened research focus on rare diseases, innovative approaches in disease management, and enhanced global collaboration to improve diagnostic accuracy and therapeutic outcomes for rare diseases, thereby alleviating the burden on both patients and society at large. This review delineates the current landscape of diagnosis and treatment for rare diseases and summarizes the future outlook.