Contributions of the UK biobank high impact papers in the era of precision medicine

Abstract

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.

Keywords: Genetic Medicine; Personalized Medicine; Precision medicine; UK biobank.