Villoslada Pablo
Department of Neurosciences, Institute of Biomedical Research August Pi Sunyer, Hospital Clinic of Barcelona, Barcelona, Spain.
Drug News Perspect. 2010 Nov;23(9):585-95. doi: 10.1358/dnp.2010.23.9.1472300.
The pursuit of personalized medicine requires the development of biomarkers to predict disease course, monitor disease evolution, stratify patient subgroups by disease activity and to predict and monitor response to therapies. Multiple sclerosis (MS) is a common neurological disease in young adults with an unpredictable course that may be associated with significant disability, diminishing the patient's quality of life. Currently, disease prognosis is based on clinical information (relapse rate and disability scales) and diagnostic tests (brain MRI or the presence of oligoclonal bands in the cerebrospinal fluid). However, the ability of neurologists to make an accurate prognosis is very limited based on such information, a situation perceived by patients as one of their biggest concerns. Although many recent studies have identified different molecules and imaging techniques associated with the course of MS, in most cases the diagnostic accuracy of such technologies has not been properly assessed. This shortcoming is partly due to the failure to validate such biomarkers, which impedes their application in clinical practice. However, the recent validation of anti-aquaporin-4 antibodies for Devic's disease and the development of optic coherent tomography for MS, are examples of the benefits that the development of MS biomarkers can offer. Indeed, it may currently be necessary to redress the bias in research towards clinical validation rather than discovery in order to promote translational research and improve patient's quality of life.
对个性化医疗的追求需要开发生物标志物，以预测疾病进程、监测疾病演变、根据疾病活动对患者亚组进行分层，以及预测和监测对治疗的反应。多发性硬化症（MS）是年轻人中常见的神经系统疾病，其病程不可预测，可能导致严重残疾，降低患者的生活质量。目前，疾病预后基于临床信息（复发率和残疾量表）和诊断测试（脑部磁共振成像或脑脊液中寡克隆带的存在）。然而，基于这些信息，神经科医生做出准确预后的能力非常有限，患者将这种情况视为他们最大的担忧之一。尽管最近许多研究已经确定了与MS病程相关的不同分子和成像技术，但在大多数情况下，这些技术的诊断准确性尚未得到适当评估。这一缺陷部分归因于未能验证此类生物标志物，这阻碍了它们在临床实践中的应用。然而，抗水通道蛋白4抗体用于视神经脊髓炎的近期验证以及用于MS的光学相干断层扫描技术的发展，都是MS生物标志物开发所能带来益处的例证。的确，为了促进转化研究并改善患者生活质量，目前可能有必要纠正研究中偏向临床验证而非发现的偏差。
