The new genetics - Genetic testing and public policy
The new genetics - Genetic testing and public policy
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DOI：
10.1136/bmj.316.7134.852
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发表时间：
1998-03-14
影响因子：
105.7
通讯作者：
Shapiro, D
中科院分区：
文献类型：
--
作者：
Holtzman, NA;Shapiro, D
与疾病相关的基因的发现率越来越高，检测方法也越来越先进，这促使人们产生了这样一种想法，即健康的人通过基因检测可以预防未来的疾病。许多疾病的遗传学是这样的，测试只有有限的能力来准确预测临床结果。然而，一些预测性基因检测的益处可能是巨大的，例如筛查新生儿苯丙酮尿症和镰状细胞贫血，以及检测有家族性甲状腺髓样癌和多发性内分泌瘤2a型风险的年龄较大的儿童。[1]事实仍然是，相对较少的干预措施尚未被设计出来，以改善大多数孟德尔疾病的结果。2当没有治疗方法时，可以使用基因检测来避免受影响后代的受孕或出生。在撒丁岛、塞浦路斯和地中海其他地方，通过对高危夫妇进行产前诊断和选择性终止受影响的胎儿，进行了携带者筛查，从而使地中海贫血婴儿的出生率明显下降。3基因检测（方框），包括产前检测，也有可能引起心理后遗症4，使个人容易受到歧视，并损害他们的隐私。测试在改进临床诊断和定制顺应性方面的其他好处可能即将到来，5但这些还有待证明。
The increasing rate of discovery of genes related to disease and the development of tests for them has fostered the idea that healthy people will be able to prevent future disease by undergoing genetic testing. The genetics of many diseases are such that tests have only a limited ability to predict the clinical outcome accurately. Nevertheless, the benefits of some predictive genetic tests can be substantial, such as screening newborns for phenylketonuria and sickle cell anemia and testing of older children at risk of familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2a. 1 The fact remains that relatively few interventions have yet been devised to improve the outcome of most mendelian disorders. 2 When no treatments are available, genetic testing can be used to avoid the conception or birth of affected offspring. Carrier screening in Sardinia, Cyprus, and elsewhere in the Mediterranean has led to an appreciable reduction in the birth of infants with thalassaemia through the use of prenatal diagnosis in couples at high risk and their selective termination of affected fetuses. 3Genetic testing (box), including prenatal testing, also carries the risks of inducing psychological sequelae 4 and of making individuals vulnerable to discrimination and diminishing their privacy. Additional benefits of testing in refining clinical diagnosis and tailoring treatent may be in the offing, 5 but these remain to be shown.