Action Needed To Realise The Potential Of New Genetic Studies

Main Category: Genetics
Article Date: 08 Jul 2009 - 3:00 PDT

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New studies that analyse genetic differences across thousands of human genomes are profoundly changing our understanding of common disease. A report of a meeting held by the Academy of Medical Sciences highlights the need to build capacity to process the vast amounts of data generated by these studies, and to develop mechanisms of responsible data sharing to accelerate the translation of knowledge into patient benefits.

Genome-wide association (GWA) studies are an important new tool for deciphering the role of genetics in human biology and disease. Technological advances mean that an individual's genome can now be sequenced more quickly, and more cheaply, than ever before. By analysing hundreds of thousands of genetic variations across the human genome, and comparing individuals with specific diseases against carefully selected controls, the approach is, for the first time, identifying multiple genetic factors associated with common diseases, including breast cancer, arthritis, stroke and type 2 diabetes.

Professor Sir John Bell FRS PMedSci, President of the Academy of Medical Sciences said, 'Comparing genetic differences between very large numbers of people is providing a better understanding of health and disease, and identifying important new routes to treatment. To do this work, researchers need access to large collections of tissue samples and patient data. The scale of projects such as UK Biobank provides an opportunity for the public to participate in research as never before.'

Sir John added, 'as well as increasing our understanding of many common diseases, Genome Wide Association Studies could identify genetic variations that impact on how individuals respond to drugs, laying the groundwork for an era in which the current ' one size-fits-all' approach to drug treatment will give way to more effective, tailored strategies.'

The report emphasises that, to fulfil this potential, robust mechanisms to promote responsible data sharing amongst researchers in academia, industry and the NHS must be developed. Pooling knowledge will maximise the value of GWA studies, prevent duplication of research, and greatly accelerate translation to better healthcare.

It is predicted that the pace of discovery will accelerate further as second generation GWA studies are developed. Consequently there is an urgent need to build capacity in bioinformatics expertise, statistical methods and computational infrastructure to process the enormous amount of sequence data that will be generated.

But the report stresses that the biological pictures being revealed by GWA studies are still incomplete. Moving from identifying a genetic association with a disease, to understanding the underlying biology, is a significant challenge - one that can only be met by much greater integration of the historically distinct approaches of genetic mapping, epidemiology and pathophysiology. Sir John concluded, 'We are only in the early stages of a process that will have significant impacts on our ability to understand and treat many serious diseases. Continued investment will be needed to translate new knowledge into benefits for patients and to ensure that the UK maintains a leading international position in this exciting area.'

Source
Academy of Medical Sciences