下一代测序技术促进罕见遗传病的诊治和咨询

摘要

Next generation sequencing (NGS) based test provided us an unprecedented power for the molecular diagnosis of rare diseases with genetic etiology, thus enabling the practice of precision medicine.In order to maximize the clinical utilities of NGS-based test, attention should be paid to the improvement of the sequencing technology, data quality and the accuracy of data interpretation, as well as the clinical correlations and pre-and post-test genetic counseling services.In doing so, it is believed practice of NGS-based test can bring expected benefit to many patients and families.%下一代测序技术大大提高了临床对罕见遗传病的诊断能力及精准治疗的可能性.为充分发挥这一新技术的临床应用,在完善测序技术、数据质量、变异分析及临床意义解读等方面的同时,还需要结合完善的临床表型评估及提供检测前后的遗传咨询.预期下一代测序会给更多的罕见病患者及家庭带来福音.