Rossiter B J, Caskey C T
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Drugs Aging. 1995 Aug;7(2):117-30. doi: 10.2165/00002512-199507020-00006.
As the Human Genome Project gathers speed, new disease genes are rapidly being found. Important as these discoveries are, they are only the beginning of the process of characterising, diagnosing and treating genetic diseases. We now have the potential to predict the onset of many disorders before the appearance of clinical symptoms, even though treatment is not always available. In this review we have used a number of examples to illustrate various aspects of the presymptomatic diagnosis of genetic disease and, where possible, late-onset disorders have been chosen as examples. When treatment is available, the diagnosis of a disease before appearance of symptoms can greatly improve the prognosis. When treatment is not available, reasons to undergo presymptomatic testing may not be so obvious. However, appropriate lifestyle changes or medical surveillance can sometimes delay onset or decrease severity of a disorder. Even if no treatment is available, genetic testing and counselling for the patient and family members can provide useful information for future planning.
随着人类基因组计划加速推进，新的疾病基因正被迅速发现。尽管这些发现意义重大，但它们仅仅是对遗传性疾病进行特征描述、诊断和治疗过程的开端。我们现在有能力在临床症状出现之前预测许多疾病的发病情况，即便并非总能进行治疗。在本综述中，我们使用了若干实例来说明遗传性疾病症状前诊断的各个方面，并且在可能的情况下，选择了迟发性疾病作为实例。当有治疗方法时，在症状出现之前对疾病进行诊断能够极大地改善预后。当没有治疗方法时，进行症状前检测的理由可能就不那么明显了。然而，适当的生活方式改变或医学监测有时可以延迟疾病的发作或减轻其严重程度。即使没有治疗方法，对患者及其家庭成员进行基因检测和咨询也可为未来规划提供有用信息。
