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Published in: European Journal of Epidemiology 1/2020

01-01-2020 | ESSAY

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

Authors: Peter Glynn, Philip Greenland

Published in: European Journal of Epidemiology | Issue 1/2020

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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.
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Literature
1.
go back to reference Coppola L, Cianflone A, Grimaldi AM, et al. Biobanking in health care: evolution and future directions. J Transl Med. 2019;17:172.CrossRef Coppola L, Cianflone A, Grimaldi AM, et al. Biobanking in health care: evolution and future directions. J Transl Med. 2019;17:172.CrossRef
2.
go back to reference Collins R. What makes the UK biobank special? Lancet. 2012;379(9822):1173–4.CrossRef Collins R. What makes the UK biobank special? Lancet. 2012;379(9822):1173–4.CrossRef
3.
go back to reference Keane PA, Grossi CM, Foster PJ, et al. Optical coherence tomography in the UK biobank study—rapid automated analysis of retinal thickness for large population-based studies. PLoS ONE. 2016;11(10):e0164095.CrossRef Keane PA, Grossi CM, Foster PJ, et al. Optical coherence tomography in the UK biobank study—rapid automated analysis of retinal thickness for large population-based studies. PLoS ONE. 2016;11(10):e0164095.CrossRef
4.
go back to reference Sudlow C, Gallacher J, Allen N, et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 2015;12(3):e1001779.CrossRef Sudlow C, Gallacher J, Allen N, et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med. 2015;12(3):e1001779.CrossRef
5.
go back to reference Allen NE, Sudlow C, Peakman T, Collins R. UK biobank data: come and get it. Sci Transl Med. 2014;6(224):224ed4.CrossRef Allen NE, Sudlow C, Peakman T, Collins R. UK biobank data: come and get it. Sci Transl Med. 2014;6(224):224ed4.CrossRef
6.
go back to reference Liu A, Pollard K. Biobanking for personalized medicine. In: Karimi-Busheri F, editor. Biobanking in the 21st century. Advances in experimental medicine and biology, vol. 864. Cham: Springer; 2015. Liu A, Pollard K. Biobanking for personalized medicine. In: Karimi-Busheri F, editor. Biobanking in the 21st century. Advances in experimental medicine and biology, vol. 864. Cham: Springer; 2015.
7.
go back to reference Califf RM. Future of personalized cardiovascular medicine: JACC state-of-the-art review. J Am Coll Cardiol. 2018;72(25):3301–9.CrossRef Califf RM. Future of personalized cardiovascular medicine: JACC state-of-the-art review. J Am Coll Cardiol. 2018;72(25):3301–9.CrossRef
8.
go back to reference Leopold JA, Loscalzo J. Emerging role of precision medicine in cardiovascular disease. Circ Res. 2018;122(9):1302–15.CrossRef Leopold JA, Loscalzo J. Emerging role of precision medicine in cardiovascular disease. Circ Res. 2018;122(9):1302–15.CrossRef
9.
go back to reference Albain KS, Paik S, van’t Veer L. Prediction of adjuvant chemotherapy benefit in endocrine responsive, early breast cancer using multigene assays. Breast. 2009;18:S141–5.CrossRef Albain KS, Paik S, van’t Veer L. Prediction of adjuvant chemotherapy benefit in endocrine responsive, early breast cancer using multigene assays. Breast. 2009;18:S141–5.CrossRef
10.
go back to reference Saracci R. Epidemiology in wonderland: big data and precision medicine. Eur J Epidemiol. 2018;33:245–57.CrossRef Saracci R. Epidemiology in wonderland: big data and precision medicine. Eur J Epidemiol. 2018;33:245–57.CrossRef
11.
go back to reference James JE. Personalized medicine, disease prevention, and the inverse care law: more harm than benefit? Eur J Epidemiol. 2014;29:383–90.CrossRef James JE. Personalized medicine, disease prevention, and the inverse care law: more harm than benefit? Eur J Epidemiol. 2014;29:383–90.CrossRef
12.
go back to reference Lee JE, Kim JH, Hong EJ, et al. National Biobank of Korea: quality control programs of collected-human biospecimens. Osong Public Health Res Perspect. 2012;3(3):185–9.CrossRef Lee JE, Kim JH, Hong EJ, et al. National Biobank of Korea: quality control programs of collected-human biospecimens. Osong Public Health Res Perspect. 2012;3(3):185–9.CrossRef
13.
go back to reference Dummer TJB, Awadalla P, Boileau C, et al. The Canadian partnership for tomorrow project: a pan-Canadian platform for research on chronic disease prevention. CMAJ. 2018;190(23):E710–7.CrossRef Dummer TJB, Awadalla P, Boileau C, et al. The Canadian partnership for tomorrow project: a pan-Canadian platform for research on chronic disease prevention. CMAJ. 2018;190(23):E710–7.CrossRef
14.
go back to reference All of Us Research Program Investigators, Denny JC, Rutter JL, Goldstein DB, 7, et al. The “All of Us” research program. 2019. p. 668–76. All of Us Research Program Investigators, Denny JC, Rutter JL, Goldstein DB, 7, et al. The “All of Us” research program. 2019. p. 668–76.
Metadata
Title
Contributions of the UK biobank high impact papers in the era of precision medicine
Authors
Peter Glynn
Philip Greenland
Publication date
01-01-2020
Publisher
Springer Netherlands
Published in
European Journal of Epidemiology / Issue 1/2020
Print ISSN: 0393-2990
Electronic ISSN: 1573-7284
DOI
https://doi.org/10.1007/s10654-020-00606-7

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