Health InsuranceAction Needed To Realise The Potential Of New Genetic Studies
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."
Academy of Medical Sciences