Department of Medicine, Division of Medical Oncology, New York University Medical School, 550 First Avenue, BCD 556, New York, NY, USA.
Ann Oncol. 2011 Jan;22 Suppl 1:i60-6. doi: 10.1093/annonc/mdq668.
Oncologists are asked with increasing frequency to counsel their patients with respect to the medical, psychological and social repercussions of genetic testing for cancer susceptibility that may have been prescribed by physicians or carried out through direct-to-consumer tests. This article critically reviews the main ethical and social implications of BRCA testing, focusing on genetic responsibility and genetic discrimination. Genetic responsibility toward oneself and others is a highly debated implication of genetic testing for cancer predisposition that requires broad considerations of the boundaries between individual and community rights and a reappraisal of the notion of autonomy as relational. Physicians' duty to warn 'at risk' relatives can be an ethical quandary, yet confidentiality is key to the patient-doctor relationship. Mutation carriers may be subject to different forms and degrees of genetic discrimination and many individuals at risk have forgone BRCA testing to avoid potential discrimination. The scientific and medical community, together with patients and the public, has actively engaged against genetic discrimination. The legislation in many countries now protects against genetic discrimination by insurance companies and employers. Legal and regulatory issues are not the final answer to discrimination and profound cultural changes are required to create understanding and acceptance of all differences.
肿瘤学家越来越频繁地被要求就癌症易感性的基因检测的医学、心理和社会影响向患者提供咨询,这些检测可能是医生规定的,也可能是通过直接面向消费者的测试进行的。本文批判性地审查了 BRCA 检测的主要伦理和社会影响,重点关注遗传责任和遗传歧视。遗传对自己和他人的责任是癌症易感性基因检测的一个备受争议的问题,需要广泛考虑个人和社区权利之间的界限,并重新评估作为关系的自主性概念。医生有责任警告“有风险”的亲属,这可能是一个伦理困境,但保密性是医患关系的关键。突变携带者可能会受到不同形式和程度的遗传歧视,许多有风险的人放弃了 BRCA 检测,以避免潜在的歧视。科学界和医学界与患者和公众一起积极反对遗传歧视。许多国家的立法现在通过保险公司和雇主来保护免受遗传歧视。法律和监管问题并不是解决歧视的最终答案,需要深刻的文化变革来创造对所有差异的理解和接受。