Population genetic screening programmes:: principles, techniques, practices, and policies
Population genetic screening programmes:: principles, techniques, practices, and policies
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DOI：
10.1038/sj.ejhg.5201113
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发表时间：
2003-12-01
影响因子：
5.2
通讯作者：
Aymé, S
中科院分区：
文献类型：
--
作者：
Godard, B;ten Kate, L;Aymé, S
本文探讨了对欧洲人口基因筛查计划产生影响的原则、技术、实践和政策的专业和科学观点。本文重点讨论围绕潜在筛选计划的问题，这些问题在引入之前需要进一步讨论。它旨在提高医疗保健专业人士和卫生政策制定者对潜在筛查计划的认识，将其作为日益关注的公共卫生问题。这些方法主要包括审查现有的专业指南、监管框架和与欧洲人口基因筛查计划相关的其他文件。然后，对出生前和出生后不同类型的基因筛查需要争论的问题进行了研究。讨论了囊性纤维化、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疾病的筛查。还审查了与基因筛查相关的特殊问题，例如知情同意、家庭方面、商业化、现场参与者和监测基因筛查项目。随后，欧洲人类遗传学学会公共和专业政策委员会于 1999 年 11 月 19 日至 20 日在荷兰阿姆斯特丹举办的国际研讨会上，来自 15 个欧洲国家的 51 名专家对这些问题进行了辩论。提出了支持和反对启动筛查计划的论点。人们质疑基因筛查在伦理问题上是否与其他类型的筛查和测试不同。人们对基因筛查未来的普遍印象是“谨慎行事”，患者组织方面更加积极推动，政策制定者更加不情愿。后者试图消除有关堕胎和优生学问题的潜在问题，这些问题可能被认为是比现实更严重的问题。然而，在“专业注意义务”和“个人自主权”之间保持平衡似乎很重要。
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'.