Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Epilepsia. 2021 Mar;62 Suppl 2:S78-S89. doi: 10.1111/epi.16739. Epub 2020 Nov 17.
Precision medicine can be distilled into a concept of accounting for an individual's unique collection of clinical, physiologic, genetic, and sociodemographic characteristics to provide patient-level predictions of disease course and response to therapy. Abundant evidence now allows us to determine how an average person with epilepsy will respond to specific medical and surgical treatments. This is useful, but not readily applicable to an individual patient. This has brought into sharp focus the desire for a more individualized approach through which we counsel people based on individual characteristics, as opposed to population-level data. We are now accruing data at unprecedented rates, allowing us to convert this ideal into reality. In addition, we have access to growing volumes of administrative and electronic health records data, biometric, imaging, genetics data, microbiome, and other "omics" data, thus paving the way toward phenome-wide association studies and "the epidemiology of one." Despite this, there are many challenges ahead. The collating, integrating, and storing sensitive multimodal data for advanced analytics remains difficult as patient consent and data security issues increase in complexity. Agreement on many aspects of epilepsy remains imperfect, rendering models sensitive to misclassification due to a lack of "ground truth." Even with existing data, advanced analytics models are prone to overfitting and often failure to generalize externally. Finally, uptake by clinicians is often hindered by opaque, "black box" algorithms. Systematic approaches to data collection and model generation, and an emphasis on education to promote uptake and knowledge translation, are required to propel epilepsy-based precision medicine from the realm of the theoretical into routine clinical practice.
精准医学可以概括为考虑个体独特的临床、生理、遗传和社会人口统计学特征,以提供疾病过程和治疗反应的个体预测。现在有大量证据可以确定一般癫痫患者对特定医疗和手术治疗的反应。这很有用,但不适用于个体患者。这使得人们迫切希望通过一种更个体化的方法来为患者提供咨询,根据个体特征而不是人群水平的数据来为患者提供咨询。我们现在正在以前所未有的速度积累数据,使我们能够将这一理想变为现实。此外,我们还可以访问越来越多的行政和电子健康记录数据、生物标志物、成像、遗传学数据、微生物组和其他“组学”数据,从而为全表型关联研究和“一个人的流行病学”铺平道路。尽管如此,未来仍面临许多挑战。由于患者同意和数据安全问题变得更加复杂,因此,对高级分析进行整理、集成和存储敏感的多模态数据仍然具有挑战性。癫痫的许多方面仍存在不完善之处,由于缺乏“真实情况”,使得模型容易受到分类错误的影响。即使有了现有数据,高级分析模型也容易过度拟合,并且通常无法在外部推广。最后,临床医生往往因不透明的“黑箱”算法而受阻。需要系统地进行数据收集和模型生成,并强调教育以促进采用和知识转化,将基于癫痫的精准医学从理论领域推向常规临床实践。