Burgess M M, Laberge C M, Knoppers B M
University of British Columbia, Centre for Applied Ethics, Vancouver.
CMAJ. 1998 May 19;158(10):1309-13.
Information about a patient's inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients' lives.
患者疾病遗传风险的信息在临床实践中具有重要的伦理和法律意义。由于基因信息本质上高度个体化但又具有家族性,因此会出现保密问题。鉴于检测伴随的社会和心理风险、检测相关信息的复杂性以及有效干预措施往往难以获得,检测前的咨询和知情同意非常重要。后续咨询对于帮助患者将检测结果融入其自身及亲属的生活也很重要。遗传咨询应由那些掌握特定疾病遗传学最新知识和可用检测方法、了解与检测相关的社会和心理风险并能够提供适当临床随访的从业者提供。一些医生可能会选择将患者转介进行遗传咨询和检测。然而,所有医生都不可避免地会参与长期随访,既要监测疾病,又要支持将基因信息融入患者的生活。