The complexities of predictive genetic testing
The complexities of predictive genetic testing
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DOI：
10.1136/bmj.322.7293.1052
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发表时间：
2001-04-28
影响因子：
105.7
通讯作者：
Burke, W
中科院分区：
文献类型：
--
作者：
Evans, JP;Skrzynia, C;Burke, W
预测性基因检测是在无症状的人身上使用基因检测来预测未来的疾病风险。这些测试代表了一种新的和不断增长的医学测试类别，与传统的医学诊断测试在基本方面有所不同。这种检测的潜在希望是，通过有针对性的筛查、监测和预防，早期识别具有特定疾病风险的个体，从而降低发病率和死亡率。然而，不同疾病的预测性基因检测的临床应用差异很大。我们在这里探讨了导致这种变化的因素，以及哪些因素将决定这些新测试现在或将来的效用。
Predictive genetic testing is the use of a genetic test in an asymptomatic person to predict future risk of disease. These tests represent a new and growing class of medical tests, differing in fundamental ways from conventional medical diagnostic tests. The hope underlying such testing is that early identification of individuals at risk of a specific condition will lead to reduced morbidity and mortality through targeted screening, surveillance, and prevention. Yet the clinical utility of predictive genetic testing for different diseases varies considerably. We explore here the factors that contribute to this variation and which will dictate the utility of any of these new tests now or in the future.