Precision Medicine: Academic dreaming or clinical reality?

被引:10
作者
Josephson, Colin B. [1 ,2 ,3 ,4 ,5 ]
Wiebe, Samuel [1 ,2 ,3 ,4 ,6 ]
机构
[1] Univ Calgary, Cumming Sch Med, Dept Clin Neurosci, Calgary, AB, Canada
[2] Univ Calgary, Cumming Sch Med, Dept Community Hlth Sci, Calgary, AB, Canada
[3] Univ Calgary, Hotchkiss Brain Inst, Calgary, AB, Canada
[4] Univ Calgary, OBrien Inst Publ Hlth, Calgary, AB, Canada
[5] Univ Calgary, Ctr Hlth Informat, Calgary, AB, Canada
[6] Univ Calgary, Clin Res Unit, Calgary, AB, Canada
关键词
big data; epilepsy; machine learning; personalized medicine; precision medicine; SEIZURE RECURRENCE; BIG DATA; ANTIEPILEPTIC DRUGS; EPILEPSY SURGERY; OUTCOMES; PREDICTION; ASSOCIATION; VALIDATION; WITHDRAWAL; DISORDERS;
D O I
10.1111/epi.16739
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:S78 / S89
页数:12
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