Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Lab Med. 2018 Jul;38(4):291-295. doi: 10.3343/alm.2018.38.4.291.
Traditional genetic counseling has focused on the target gene and its natural progress with respect to disease risk. Next-generation sequencing (NGS) can produce information on several genetic variants simultaneously, with different functions and consequences for each. Accordingly, determining the status of the patient or consultant and interpreting sequencing results from many genes can largely increase the complexity of genetic counseling. Moreover, the current environment of big data that can be readily shared via the internet and a ubiquitous network provides many different avenues for which a consultant must handle the traditional principle of genetic counseling in different ways. Thus, further consideration and rethinking of genetic counseling principles are necessary in the era of NGS. In this review, we discuss several aspects of genetic counseling that one can encounter when faced with NGS data.
传统的遗传咨询主要集中在目标基因及其对疾病风险的自然进展上。下一代测序（NGS）可以同时提供几种遗传变异的信息，每种变异都具有不同的功能和后果。因此，确定患者或顾问的状况，并解释来自多个基因的测序结果，在很大程度上增加了遗传咨询的复杂性。此外，当前的大数据环境可以通过互联网和无处不在的网络轻松共享，这为顾问提供了许多不同的途径，顾问必须以不同的方式处理遗传咨询的传统原则。因此，在 NGS 时代，有必要进一步考虑和重新思考遗传咨询原则。在这篇综述中，我们讨论了在面对 NGS 数据时可能遇到的遗传咨询的几个方面。
