Children's Mercy Hospital & Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA.
Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70.
Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite extensive testing. Diseases with locus heterogeneity or overlapping signs and symptoms are especially challenging owing to the number of potential targets. Consequently, there is immense need for scalable, economical, rapid, multiplexed diagnostic testing for rare Mendelian diseases. Recent advances in next-generation sequencing and bioinformatic technologies have the potential to change the standard of care for the diagnosis of rare genetic disorders. These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases.
罕见病在个体中较为少见，但在儿科发病率、死亡率和医疗保健费用方面的总体影响较大。目前对罕见遗传疾病的分子检测通常是一项漫长而昂贵的工作，尽管进行了广泛的检测，但在许多情况下仍无法做出分子诊断。由于潜在的靶点数量众多，具有基因座异质性或重叠体征和症状的疾病尤其具有挑战性。因此，迫切需要针对罕见孟德尔疾病进行可扩展、经济、快速、多重诊断检测。新一代测序和生物信息学技术的最新进展有可能改变罕见遗传疾病诊断的护理标准。这些进展将在最近开发的用于检测 592 种常染色体隐性和 X 连锁疾病的测试的背景下进行综述。
