罕见病诊断的相关技术及发展

 罕见病大多数是遗传性疾病，其发病率低，种类繁多且表型复杂多样，导致临床上难以进行及时和准确的诊断。随着分子遗传学、分子诊断技术、基因测序技术及组学技术的进步，罕见病诊断取得了重大发展。在传统基因检测技术基础上，二代测序技术迅速发展并广泛应用于罕见病的诊断和研究中，三代测序技术也展示出潜在应用价值。虽然传统的酶学检测技术仍占有重要地位，但已不能满足罕见病诊断的需求；蛋白质组学、代谢组学的崛起，使多种罕见病的准确诊断成为可能。同时结合分子影像技术和生物信息技术，计算机辅助诊断也展现出了广泛的应用前景。

Technologies and development of rare disease diagnosis

Most of rare diseases are hereditary diseases, characterized by low incidence, numerous varieties and diverse phenotypes, and therefore it is difficult to diagnose rare diseases timely and accurately in clinical practice. With the advances in the molecular genetics, the molecular diagnostic techniques, and the gene sequencing and omics techniques, a significant progress has been made in the diagnosis of rare diseases in recent years. On the basis of traditional gene detection techniques, the next-generation sequencing technology has been rapidly developed and widely used in the diagnosis and the research of rare diseases. The next-generation sequencing technology is costeffective and of high capacity over the traditional gene tests, and is well developed for the clinical use. The third generation sequencing also shows a potential diagnostic value. Although the traditional enzymatic detection techniques play an important role in the diagnosis of rare diseases, they fail to meet the surging diagnostic demands. Studies demonstrate that the rise of the proteomics and the metabolomics enables an accurate diagnosis of a variety of rare diseases. The computer-assisted initial diagnosis also sees a bright future, combined with the molecular imaging and the bio-information technologies. Technological advances have enhanced the ability to diagnose rare diseases to a great extent.