Lee Sangmoon, Choi Murim
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.
Genomics Inform. 2016 Jun;14(2):42-5. doi: 10.5808/GI.2016.14.2.42. Epub 2016 Jun 30.
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.
自从下一代测序（NGS）技术应用于临床实践以来，通过将基因组医学转化为精准或个性化管理，在罕见遗传病的诊断方面取得了革命性进展。事实上，已经报道了几例罕见遗传病采用个性化或靶向治疗进行分子诊断和治疗的成功案例。然而，基于NGS的精准医学要更广泛应用仍有几个障碍需要克服，包括测序成本高、变异体敏感性和准确性不完整、实际操作复杂性以及可用治疗方案短缺。
