Lindor Noralane M, Thibodeau Stephen N, Burke Wylie
Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ, and Center for Individualized Medicine, Mayo Clinic, Rochester, MN.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Mayo Clin Proc. 2017 Jan;92(1):159-172. doi: 10.1016/j.mayocp.2016.10.019.
Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of "next-generation" sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care. Little research has been conducted in this area. We examine the considerable unresolved scientific and ethical issues encountered when considering whole-genome sequencing of healthy people.
最近的技术进步已经从根本上改变了基因检测，使其从一项昂贵且繁重的任务转变为一种快速且成本较低的选择，可用于多种目的。人们发现，“下一代”测序技术可用于诊断数百种遗传疾病、评估药物基因组变异以及识别恶性肿瘤内的可治疗靶点。基因组信息的随时可得引发了一个问题，即对不寻求诊断的个体进行基因组测序，也就是对一般健康人群进行基因组筛查，是否会对其医疗保健产生临床益处。目前在这一领域开展的研究很少。我们探讨了在考虑对健康人群进行全基因组测序时所遇到的大量尚未解决的科学和伦理问题。
