Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, USA.
Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, USA.
Eur J Epidemiol. 2020 Jan;35(1):5-10. doi: 10.1007/s10654-020-00606-7. Epub 2020 Jan 28.
To review the highest impact studies published from the UK Biobank and assess their contributions to "precision medicine." We reviewed 140 of 689 studies published between 2008 and May 2019 from the UK Biobank deemed to be high impact by citations, alternative metric data, or publication in a high impact journal. We classified studies according to whether they (1) were largely methods papers, (2) largely replicated prior findings or associations, (3) generated novel findings or associations, (4) developed risk prediction models that did not yield clinically significant improvements in risk estimation over prior models or (5) developed models that produced significant improvements in individualized risk assessment, targeted screening, or targeted treatment. This final category represents "precision medicine." We classified 15 articles as category 1, 33 as category 2, 85 as category 3, six as category 4, and one as category 5. In this assessment of the first 7 years of the UK Biobank and first 4 years of genetic data availability, the majority of high impact UK Biobank studies either replicated known associations or generated novel associations without clinically relevant improvements in risk prediction, screening, or treatment. This information may be useful for designers of other cohort studies in terms of input to design and follow-up to facilitate precision medicine research.
回顾英国生物库发表的最具影响力的研究,并评估它们对“精准医学”的贡献。我们对英国生物库在 2008 年至 2019 年 5 月期间发表的 689 项研究中的 140 项进行了审查,这些研究被认为具有高影响力,其依据是引用量、替代指标数据或在高影响力期刊上发表。我们根据研究的内容将其分类:(1)主要是方法类论文,(2)主要复制了先前的发现或关联,(3)产生了新的发现或关联,(4)开发了风险预测模型,但与之前的模型相比,并未在风险估计方面带来显著改善,或 (5)开发了模型,可显著改善个体化风险评估、靶向筛查或靶向治疗。这最后一类代表“精准医学”。我们将 15 篇文章归类为第 1 类,33 篇归类为第 2 类,85 篇归类为第 3 类,6 篇归类为第 4 类,1 篇归类为第 5 类。在对英国生物库前 7 年和遗传数据可用前 4 年的评估中,大多数具有高影响力的英国生物库研究要么复制了已知的关联,要么产生了新的关联,但在风险预测、筛查或治疗方面没有临床相关的改善。对于其他队列研究的设计者来说,这些信息在设计输入和后续随访方面可能会有所帮助,有助于精准医学研究。