Modell B
Department of Primary Care and Population Sciences, University College London, Royal Free Hospital Schools of Medicine, UK.
Ann Med. 1997 Dec;29(6):591-9. doi: 10.3109/07853899709007488.
Concern is often expressed that, in the future, screening for genetic risk will become too widespread. Haemoglobin disorders (the thalassaemias and sickle cell disorders) offer an excellent model for genetic screening, because they are common and severe. They are recessively inherited. Carriers can be detected by conventional blood tests with an accuracy of 99%, so couples at risk can be identified before they have children and offered genetic counselling and prenatal diagnosis. Carrier-screening programmes have been in place in several countries for over 20 years and now offer extensive practical experience of the problems of delivering the service equitably to entire populations. This experience suggests that the main risk is of too little rather than too much genetic screening, and of doing it badly, and demonstrates the need for a discipline of 'community genetics'. Here I propose that modern information technology has a central role in providing communities with adequate access to correct genetic information.
人们常常担心，未来基因风险筛查会变得过于普遍。血红蛋白疾病（地中海贫血和镰状细胞疾病）为基因筛查提供了一个绝佳的模型，因为它们既常见又严重。这些疾病是隐性遗传的。通过常规血液检测可以检测出携带者，准确率达99%，因此可以在有风险的夫妇生育前识别出他们，并为他们提供遗传咨询和产前诊断。在一些国家，携带者筛查项目已经实施了20多年，现在已经积累了丰富的实践经验，了解如何公平地为全体人群提供这项服务所面临的问题。这一经验表明，主要风险是基因筛查过少而非过多，以及筛查做得不好，这也证明了“社区遗传学”这一学科的必要性。在此我提议，现代信息技术在为社区提供获取正确基因信息的充分途径方面发挥着核心作用。
