The first two papers using the complete set of data from the huge UK biobank project — currently the largest human genome study — were published on 10 October, both in the journal Nature. The UK Biobank, set up in 2006, holds genetic data on 500,000 people between the ages of 40 and 69 living in the UK, as well as data on their lifestyle and body type of each individual. In addition, clinical data based on saliva, blood, and urine samples are available, and in some cases, MRI scans. Owing to the sheer size and diversity of the dataset — which is available for anyone to use — the UK Biobank is expected to become an invaluable tool for researchers.
In the first paper published this week, a team comprised of researchers from the UK, Australia and Switzerland, sifted through the genome data to uncover associations between genetic variants and certain characteristics, in an effort to fill in missing information or gaps within the dataset (1). The paper presents descriptions of the full cohort, including genome-wide genetic data for all individuals. The statistical analysis was led by Prof Jonathan Marchini and Prof Peter Donnelly at Oxford’s Wellcome Centre for Human Genetics, laboratory studies were carried out by Samantha Welsh and her team at the UK Biobank coordinating centre, and Affymetrix, an American biotech company, performed the genotyping. Based on the analysis of the genetic data ― including “genotype quality, properties of population structure, and relatedness of the genetic data” ― they were able to increase the number of testable variants from 800,000 to 96 million.
In the second study, researchers from Oxford University, led by Prof Stephen Smith from the Wellcome Trust Centre for Integrative Neuroimaging and Prof Jonathan Marchini of the Wellcome Centre for Human Genetics, compared genetic data with 10,000 corresponding MRI brain scans. Based on advanced statistical methods, they reveal genetic influences on brain structure and function and how this correlates with neurodegenerative diseases, psychiatric disorders, and personality (2). According to the authors, the findings “provide insights into the genetic architecture of the brain that are relevant to neurological and psychiatric disorders, brain development and ageing.”
The UK Biobank, predominantly funded by the Medical Research Council and the Wellcome Trust and run as a charity, is the first project of its kind to successfully collect and share genetic, physical, and clinical information on a population scale. Unlike other genome projects, the full datasets and results from all studies using the data will be available from the start. However, the groundbreaking project would not have been a such a success without 500 000 volunteers and the infrastructure of the UK’s National Health Service (NHS), which recruited the patients and provided access to their health records.
Since general access to the UK Biobank was granted in 2012, more than 8,294 registrations have been approved and 796 registered projects are currently underway, which have already contributed to at least 500 peer-reviewed publications. These results are paving the way for a more personalised approach to medicine. It is hoped that this so-called precision medicine — treatments tailored to the characteristics of individual patients — will improve overall human health by using the wisdom of the crowds to better understand the genetics behind certain diseases.
Based on the success so far, genomic medicine will be expanded further within the NHS. The 100,000 Genomes Project plans to sequence the genomes of 1 million people. Over the next 5 years, 5 million genomes could be sequenced, including those of sick children and people with rare cancers.
(1) Bycroft, C. et al. The UK Biobank resource with deep phenotyping and genomic data. Nature (2018). DOI: 10.1038/s41586-018-0579-z
(2) Elliott, L. et al. Genome-wide association studies of brain structure and function in the UK Biobank. Nature (2018). DOI: 10.1101/178806