Fujimura F K
Myriad Diagnostic Services Inc, Salt Lake City.
Curr Opin Biotechnol. 1994 Dec;5(6):654-62. doi: 10.1016/0958-1669(94)90090-6.
The rapid pace of gene discovery has led to new opportunities for clinical diagnosis using molecular genetic technologies. Recent achievements include the culmination of the 10-year search for the Huntington's disease gene, the identification of predisposing genes for certain familial colon cancers, and the characterization of potential genetic risk indicators for Alzheimer's disease, hypertension, and coronary heart disease. These advances, coupled with the previous discoveries of important disease genes (e.g. those for cystic fibrosis, Duchenne muscular dystrophy, and fragile X syndrome) have quickly expanded the capacity of genetic analysis, allowing the design of enhanced and novel approaches for diagnostic testing. The transfer of molecular technology to the area of clinical genetic analysis, although associated with many potential benefits, has raised some concern regarding the possible misuse of genetic tests and information, particularly with regard to presymptomatic diagnosis of disease and population screening.
基因发现的快速发展为利用分子遗传技术进行临床诊断带来了新机遇。近期成果包括历时10年对亨廷顿舞蹈症基因搜寻的最终结果、某些家族性结肠癌易感基因的鉴定，以及阿尔茨海默病、高血压和冠心病潜在遗传风险指标的特征描述。这些进展，再加上之前对重要疾病基因（如囊性纤维化、杜兴氏肌营养不良症和脆性X综合征相关基因）的发现，迅速扩展了基因分析能力，使得能够设计出更完善和新颖的诊断测试方法。尽管分子技术向临床基因分析领域的转移带来了诸多潜在益处，但也引发了一些关于基因检测和信息可能被滥用的担忧，尤其是在疾病症状前诊断和群体筛查方面。
