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深部脑刺激、脑图谱和个性化医疗:人类基因组计划的启示。

Deep brain stimulation, brain maps and personalized medicine: lessons from the human genome project.

机构信息

Division of Medical Ethics, New York Presbyterian Hospital-Weill Cornell Medical Center, Weill Medical College of Cornell University, 435 East 70th Street, Suite 4-J, New York, NY, 10021, USA,

出版信息

Brain Topogr. 2014 Jan;27(1):55-62. doi: 10.1007/s10548-013-0297-7. Epub 2013 Jun 9.

Abstract

Although the appellation of personalized medicine is generally attributed to advanced therapeutics in molecular medicine, deep brain stimulation (DBS) can also be so categorized. Like its medical counterpart, DBS is a highly personalized intervention that needs to be tailored to a patient's individual anatomy. And because of this, DBS like more conventional personalized medicine, can be highly specific where the object of care is an N = 1. But that is where the similarities end. Besides their differing medical and surgical provenances, these two varieties of personalized medicine have had strikingly different impacts. The molecular variant, though of a more recent vintage has thrived and is experiencing explosive growth, while DBS still struggles to find a sustainable therapeutic niche. Despite its promise, and success as a vetted treatment for drug resistant Parkinson's Disease, DBS has lagged in broadening its development, often encountering regulatory hurdles and financial barriers necessary to mount an adequate number of quality trials. In this paper we will consider why DBS-or better yet neuromodulation-has encountered these challenges and contrast this experience with the more successful advance of personalized medicine. We will suggest that personalized medicine and DBS's differential performance can be explained as a matter of timing and complexity. We believe that DBS has struggled because it has been a journey of scientific exploration conducted without a map. In contrast to molecular personalized medicine which followed the mapping of the human genome and the Human Genome Project, DBS preceded plans for the mapping of the human brain. We believe that this sequence has given personalized medicine a distinct advantage and that the fullest potential of DBS will be realized both as a cartographical or electrophysiological probe and as a modality of personalized medicine.

摘要

虽然个性化医学的称谓通常归因于分子医学的先进疗法,但深部脑刺激(DBS)也可以归类于此。与医学相对应,DBS 是一种高度个性化的干预措施,需要根据患者的个体解剖结构进行调整。正因为如此,DBS 与更传统的个性化医学一样,可以高度针对个体(N=1)进行治疗。但这也是两者相似之处的终结。除了它们在医学和外科上的不同起源,这两种个性化医学在影响上也截然不同。尽管分子变体的历史相对较短,但它却蓬勃发展,正在经历爆炸式增长,而 DBS 仍在努力寻找可持续的治疗利基。尽管 DBS 作为一种经过验证的治疗耐药性帕金森病的方法具有很大的潜力和成功,但它在扩大其发展方面仍然滞后,经常遇到监管障碍和必要的财务障碍,以进行足够数量的高质量试验。在本文中,我们将探讨为什么 DBS——或者更好的是神经调节——遇到了这些挑战,并将这种经验与个性化医学的更成功进展进行对比。我们认为,个性化医学和 DBS 的不同表现可以归结为时间和复杂性的问题。我们相信,DBS 之所以一直处于困境,是因为它是在没有地图的情况下进行的科学探索之旅。与紧随人类基因组图谱和人类基因组计划的分子个性化医学不同,DBS 先于人类大脑图谱的计划。我们认为,这种顺序为个性化医学提供了明显的优势,而 DBS 的最大潜力将作为一种图谱或电生理学探针以及个性化医学的一种方式得到实现。

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