Prence E M
Prence Consulting, Ellwood City, PA 16117, USA.
Genet Test. 1999;3(2):201-5. doi: 10.1089/gte.1999.3.201.
The unique aspects of genetic testing, such as the rarity of genetic disorders, lack of other tests for comparison, and heterogeneity and incomplete penetrance of some genetic diseases, make the validation of genetic tests a challenge in many instances. Although many organizations concerned with clinical laboratory testing and genetic testing in particular have acknowledged the need for validation of genetic tests prior to their introduction into routine practice, no guidelines exist on how to perform the validation of a genetic test. Given such difficulties faced by those involved in genetic testing, we present here a practical guide for the validation of genetic tests, compiled from the suggestions of several laboratorians involved in genetic testing and several officials involved in the oversight of laboratory testing in the United States.
基因检测的独特之处，如遗传疾病的罕见性、缺乏其他可供比较的检测方法，以及某些遗传疾病的异质性和不完全外显率，使得在许多情况下基因检测的验证成为一项挑战。尽管许多关注临床实验室检测，尤其是基因检测的组织已经认识到在将基因检测引入常规实践之前进行验证的必要性，但目前尚无关于如何进行基因检测验证的指南。鉴于基因检测相关人员面临的这些困难，我们在此提供一份基因检测验证的实用指南，该指南是根据几位参与基因检测的实验室工作人员以及几位参与美国实验室检测监督的官员的建议汇编而成的。
