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From hype to reality: data science enabling personalized medicine

机译:从炒作到现实:数据科学实现个性化医学

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摘要

BackgroundPersonalized, precision, P4, or stratified medicine is understood as a medical approach in which patients are stratified based on their disease subtype, risk, prognosis, or treatment response using specialized diagnostic tests. The key idea is to base medical decisions on individual patient characteristics, including molecular and behavioral biomarkers, rather than on population averages. Personalized medicine is deeply connected to and dependent on data science, specifically machine learning (often named Artificial Intelligence in the mainstream media). While during recent years there has been a lot of enthusiasm about the potential of ‘big data’ and machine learning-based solutions, there exist only few examples that impact current clinical practice. The lack of impact on clinical practice can largely be attributed to insufficient performance of predictive models, difficulties to interpret complex model predictions, and lack of validation via prospective clinical trials that demonstrate a clear benefit compared to the standard of care. In this paper, we review the potential of state-of-the-art data science approaches for personalized medicine, discuss open challenges, and highlight directions that may help to overcome them in the future.
机译:背景个性化,精密,P4或分层医学被理解为一种医学方法,其中使用专门的诊断测试根据患者的疾病亚型,风险,预后或治疗反应对其进行分层。关键思想是根据个体患者特征(包括分子和行为生物标志物)而不是总体平均值做出医疗决策。个性化医学与数据科学,尤其是机器学习(在主流媒体中通常称为人工智能)紧密相连,并依赖于它。近年来,人们对“大数据”和基于机器学习的解决方案的潜力充满了热情,但很少有影响当前临床实践的例子。缺乏对临床实践的影响,在很大程度上可以归因于预测模型的性能不足,难以解释复杂的模型预测,以及缺乏通过前瞻性临床试验进行的验证,这些试验证明与护理标准相比具有明显的益处。在本文中,我们回顾了用于个性化医学的最新数据科学方法的潜力,讨论了开放的挑战,并重点介绍了将来可能有助于克服这些挑战的方向。

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