Memory and Aging Center, University of California, San Francisco, United States.
Prog Neurobiol. 2013 Nov;110:29-44. doi: 10.1016/j.pneurobio.2013.07.001. Epub 2013 Jul 29.
This paper is intended to discuss some of the scientific and ethical issues that are created by increased research efforts towards earlier diagnosis, as well as to treatment of, human prion diseases (and related dementias), including the resulting consequences for individuals, their families, and society. Most patients with prion disease currently are diagnosed when they are about 2/3 of the way through their disease course (Geschwind et al., 2010a; Paterson et al., 2012b), when the disease has progressed so far that even treatments that stop the disease process would probably have little benefit. Although there are currently no treatments available for prion diseases, we and others have realized that we must diagnose patients earlier and with greater accuracy so that future treatments have hope of success. As approximately 15% of prion diseases have a autosomal dominant genetic etiology, this further adds to the complexity of ethical issues, particularly regarding when to conduct genetic testing, release of genetic results, and when or if to implement experimental therapies. Human prion diseases are both infectious and transmissible; great care is required to balance the needs of the family and individual with both public health needs and strained hospital budgets. It is essential to proactively examine and address the ethical issues involved, as well as to define and in turn provide best standards of care.
本文旨在讨论一些因加大对人类朊病毒病(和相关痴呆症)的早期诊断和治疗的研究力度而产生的科学和伦理问题,包括对个人、家庭和社会产生的后果。目前,大多数朊病毒病患者在疾病进程的大约 2/3 时被诊断出来(Geschwind 等人,2010a;Paterson 等人,2012b),此时疾病已经进展到即使停止疾病进程的治疗也可能收效甚微。尽管目前尚无针对朊病毒病的治疗方法,但我们和其他人已经意识到,我们必须更早且更准确地诊断患者,以便未来的治疗有成功的希望。由于大约 15%的朊病毒病具有常染色体显性遗传病因,这进一步增加了伦理问题的复杂性,特别是关于何时进行基因检测、基因检测结果的发布以及何时或是否实施实验性治疗。人类朊病毒病具有传染性和可传播性;需要非常谨慎地平衡家庭和个人的需求与公共卫生需求和紧张的医院预算之间的关系。积极审查和解决所涉及的伦理问题至关重要,同时还要定义并提供最佳的护理标准。