Galjaard H
Erasmus University Rotterdam, The Netherlands.
Pathol Biol (Paris). 1997 Mar;45(3):250-5.
About 10% of the human genome has now been mapped and for more than 1000 diseases closely linked DNA polymorphisms or the responsible genes have been identified. These developments have extended the scope of (prenatal) diagnosis and carrier detection which already was possible by biochemical analysis of protein defects in some 400 Mendelian disorders. Together with the study of chromosomal aberrations these activities form the basis for genetic counselling and carrier screening programmes. A brief overview of the activities in clinical genetics will be presented and their importance for the prevention of congenital disorders and for informed decisions of couples at risk will be emphasized. Reproductive decisions are, however very closely related to culture, religion, education and the socioeconomic status of individuals and populations. Up to now genetic services have mainly been developed in wealthy postindustrial countries with a low infant mortality. But even among these countries there are major differences in the implementation of gene technology as will be shown by comparisons of the United States, Europe and Japan. In the developing countries where about 95% of the world's future children will be born there are major hindrances in the development of clinical genetics such as poverty, illiteracy of women, low contraceptive use and a high infant mortality. There are, however, examples of developing countries that give high priority to the application of gene technology such as Cuba and China. While the developing countries are struggling to improve their basic health care, research on gene technology in the western countries proceeds fast. The early identification of a particular gene constitution will show whether a young adult is at higher risk of important diseases such as various forms of cancer, cardiovascular disease, diabetes or psychiatric disorders. The therapeutical, preventive, psychological and some ethical aspects of this new era of predictive medicine will be discussed.
目前人类基因组约10%已被绘制图谱，并且已鉴定出与1000多种疾病紧密相关的DNA多态性或致病基因。这些进展扩大了（产前）诊断和携带者检测的范围，而在约400种孟德尔疾病中，通过对蛋白质缺陷进行生化分析，此前已可进行此类检测。这些活动与染色体畸变研究一起，构成了遗传咨询和携带者筛查计划的基础。本文将简要概述临床遗传学活动，并强调其对预防先天性疾病以及帮助有风险的夫妇做出明智决策的重要性。然而，生育决策与个人和群体的文化、宗教、教育及社会经济地位密切相关。到目前为止，遗传服务主要在婴儿死亡率较低的富裕后工业化国家得到发展。但即便在这些国家中，基因技术的应用也存在重大差异，美国、欧洲和日本的比较将表明这一点。在占世界未来儿童出生数约95%的发展中国家，临床遗传学发展面临重大障碍，如贫困、女性文盲、低避孕措施使用率和高婴儿死亡率。不过，也有一些发展中国家高度重视基因技术的应用，如古巴和中国。当发展中国家努力改善其基本医疗保健时，西方国家的基因技术研究进展迅速。早期识别特定的基因构成将显示一名年轻人是否患某些重大疾病的风险更高，如各种癌症、心血管疾病、糖尿病或精神疾病。本文将讨论这一预测医学新时代的治疗、预防、心理及一些伦理方面的问题。
