Smith K C
Department of Philosophy and Religion, Clemson University, SC 29634-1508, USA.
Mt Sinai J Med. 1998 May;65(3):178-84; discussion 215-23.
The explosive growth in genetic technology quickly will make possible an unprecedented number of tests for genetically based conditions. A necessary condition for the use of such tests without risk of harm to the patient is their accuracy. However, most discussions of test accuracy in the literature have equivocated between two importantly different meanings of the word. In particular, it must be remembered that a high analytic accuracy does not imply a high diagnostic accuracy. Questions about the diagnostic accuracy of genetic tests presently loom large because of our limited knowledge of the complex etiology of disease and the distribution within the general population of the causal factors involved. Our current inability to supply patients with accurate diagnosis based on genetic information, however, is less problematic when examined in the context of new reproductive technologies such as in vitro fertilization and intraplasmic sperm injection.
基因技术的迅猛发展将迅速使针对基于基因的疾病进行前所未有的大量检测成为可能。在不对患者造成伤害风险的情况下使用此类检测的一个必要条件是其准确性。然而，文献中关于检测准确性的大多数讨论都在该词的两种重要不同含义之间含糊其辞。尤其必须记住的是，高分析准确性并不意味着高诊断准确性。由于我们对疾病复杂病因以及所涉及因果因素在普通人群中的分布了解有限，目前关于基因检测诊断准确性的问题显得尤为突出。然而，当在体外受精和胞浆内单精子注射等新的生殖技术背景下审视时，我们目前无法根据基因信息为患者提供准确诊断的问题就不那么成问题了。
