Korf Bruce R
Department of Genetics, University of Alabama at Birmingham, 1720 2nd Ave. South, Kaul 230, Birmingham, Alabama 35294, USA.
Discov Med. 2013 Nov;16(89):241-8.
Although some have wondered whether the sequencing of the human genome has led to major advances in medicine, in fact there are multiple examples where genomics has been integrated into medical practice. In the area of prevention, genomic approaches are now used for non-invasive prenatal testing of fetal DNA in the maternal circulation, for expanded preconceptional screening for carrier status, for autosomal recessive disorders, and for assessment of risk of common disease. In the area of diagnosis, major advances have been made in cytogenomics and in use of whole exome or whole genome sequencing. In therapeutics, pharmacogenetic testing is now feasible, tumor genome sequencing is being used to guide cancer therapy, and genomic discoveries are enabling development of new targeted therapies. Ultimately it is possible that genome sequencing may be done for all individuals on a routine basis, though there remain significant technical, ethical, and medical systems challenges to be overcome. It is likely that integration of genomics into medical practice will occur gradually over a long period of time, but the process is now well underway.
尽管有些人曾质疑人类基因组测序是否已在医学领域带来重大进展，但实际上有多个例子表明基因组学已被融入医疗实践。在预防领域，基因组学方法现在用于对母体外周血中胎儿DNA进行无创产前检测、用于扩大对携带者状态的孕前筛查、用于常染色体隐性疾病以及用于评估常见疾病风险。在诊断领域，细胞基因组学以及全外显子组或全基因组测序的应用已取得重大进展。在治疗领域，药物遗传学检测现在可行，肿瘤基因组测序正用于指导癌症治疗，并且基因组学发现正在推动新的靶向治疗药物的研发。最终，对所有人进行常规基因组测序虽仍面临重大的技术、伦理和医疗系统挑战有待克服，但仍有可能实现。基因组学融入医疗实践的过程可能会在很长一段时间内逐步发生，但这一进程目前已在顺利进行。
