100 Ways of Using Data to Make Lives Better

Understanding the Risks of Developing Diseases and Advancing Medical Treatments

Published on: 20th December 2016

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Case Study 18
Discovery Science/Precision and Stratified Medicine

Principal investigator: Dr Caroline Hayward, University of Edinburgh, Project Manager Dr Shona M. Kerr, University of Edinburgh

By making biological samples and other data from Scottish volunteers available to researchers worldwide, the Generation Scotland Scottish Family Health Study is helping to predict the risk of people developing particular conditions, leading to more effective treatments.

The Challenge

Researchers and doctors can more accurately predict the risk of people developing particular conditions, and develop treatment for the resulting diseases, if they can identify genetic differences that are connected with either good or bad health throughout a person’s lifetime. To help achieve this, the Generation Scotland Scottish Family Health Study (GS) was established. GS is a resource of biological samples, environmental, psychological, clinical and genetic data from adult volunteers recruited across Scotland between 2006 and 2011 and it is available to researchers worldwide.

The Research

Research teams can use populations of data such as GS to help identify common and rare genetic variations. Data and samples collected from over 20,000 people who took part in the GS study are being used to explore a wide range of complicated medical conditions including heart and kidney disease, chronic pain, lung function, mental health and memory. The GS volunteers also gave consent for researchers to link to their NHS electronic health record data, allowing for long-term follow-up of their health via medical records and relating this to their genetic make-up.

The Results

The first use of these NHS health records for genetic research in the GS study analysed information about hospital in-patients to identify more than 200 individuals diagnosed with atrial fibrillation, the most common type of heart rhythm abnormality, and similar but healthy (control) participants. The project is part of the global AFGen Consortium which compares genetic differences between people with atrial fibrillation and healthy people to find the causes of this important heart problem.

High levels of uric acid in the blood can cause solid crystals to form within joints which can lead to a painful condition called gout. In another study, blood test results for uric acid on over 2,000 GS participants from NHS Tayside were analysed. The research team were able to find a well-established genetic association with an important gene which had previously only been reported using data gathered specifically for research.

The Impact

Nearly 50,000 people are diagnosed each year in the UK with atrial fibrillation. By linking data, the GS study has improved our understanding of people at risk of diseases like atrial fibrillation which will ultimately lead to new treatments. The combination of genetic information and the ability to link to a wide range of data collected for routine healthcare purposes has created a rich resource for health research. This will allow new scientific discoveries to be made that are relevant to a wide range of complex conditions and will contribute to advances in medical research and personal, customised healthcare for patients and populations.

For more information visit www.ed.ac.uk/mrc-human-genetics-unit/research/qtl-group

Enquiries to Cherry Martin, Communications Manager, The Farr Institute of Health Informatics Research, cherry.martin@ed.ac.uk

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