Godard Béatrice, ten Kate Leo, Evers-Kiebooms Gerry, Aymé Ségolène
INSERM SC11, Paris, France.
Eur J Hum Genet. 2003 Dec;11 Suppl 2:S49-87. doi: 10.1038/sj.ejhg.5201113.
This paper examines the professional and scientific views on the principles, techniques, practices, and policies that impact on the population genetic screening programmes in Europe. This paper focuses on the issues surrounding potential screening programmes, which require further discussion before their introduction. It aims to increase, among the health-care professions and health policy-makers, awareness of the potential screening programmes as an issue of increasing concern to public health. The methods comprised primarily the review of the existing professional guidelines, regulatory frameworks and other documents related to population genetic screening programmes in Europe. Then, the questions that need debate, in regard to different types of genetic screening before and after birth, were examined. Screening for conditions such as cystic fibrosis, Duchenne muscular dystrophy, familial hypercholesterolemia, fragile X syndrome, hemochromatosis, and cancer susceptibility was discussed. Special issues related to genetic screening were also examined, such as informed consent, family aspects, commercialization, the players on the scene and monitoring genetic screening programmes. Afterwards, these questions were debated by 51 experts from 15 European countries during an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Amsterdam, The Netherlands, 19-20, November, 1999. Arguments for and against starting screening programmes have been put forward. It has been questioned whether genetic screening differs from other types of screening and testing in terms of ethical issues. The general impression on the future of genetic screening is that one wants to 'proceed with caution', with more active impetus from the side of patients' organizations and more reluctance from the policy-makers. The latter try to obviate the potential problems about the abortion and eugenics issues that might be perceived as a greater problem than it is in reality. However, it seems important to maintain a balance between a 'professional duty of care' and 'personal autonomy'.
本文探讨了关于影响欧洲人群基因筛查项目的原则、技术、实践和政策的专业及科学观点。本文聚焦于潜在筛查项目周围的问题，这些问题在引入之前需要进一步讨论。其目的是在医疗保健专业人员和卫生政策制定者中，提高对潜在筛查项目作为公共卫生日益关注问题的认识。方法主要包括对欧洲人群基因筛查项目相关的现有专业指南、监管框架和其他文件的审查。然后，研究了关于出生前后不同类型基因筛查需要辩论的问题。讨论了针对囊性纤维化、杜氏肌营养不良症、家族性高胆固醇血症、脆性X综合征、血色素沉着症和癌症易感性等病症的筛查。还研究了与基因筛查相关的特殊问题，如知情同意、家庭方面、商业化、相关各方以及监测基因筛查项目。之后，来自15个欧洲国家的51位专家在1999年11月19 - 20日于荷兰阿姆斯特丹由欧洲人类遗传学协会公共与专业政策委员会组织的一次国际研讨会上对这些问题进行了辩论。提出了支持和反对启动筛查项目的论据。有人质疑基因筛查在伦理问题方面是否与其他类型的筛查和检测不同。对基因筛查未来的总体印象是，人们希望“谨慎行事”，患者组织方面有更积极的推动，而政策制定者则更为犹豫。后者试图避免可能被视为比实际问题更大的堕胎和优生学问题的潜在问题。然而，在“专业护理职责”和“个人自主权”之间保持平衡似乎很重要。
