UK leads the way to new era in genomics

A partnership involving 200 scientists has begun to untangle the multiple genetic and environmental factors that underlie chronic diseases like arthritis, heart disease and diabetes to find better ways to treat and prevent them.

This study, the largest ever of the genetics of common diseases, was published in the science journal Nature in June 2007.

It compared the genes of 2,000 people suffering from each of seven disorders, with the genes of 3,000 controls – a total of 17,000 DNA samples from across the UK.

This research shows that it is possible to analyse human variation in health and disease on an enormous scale.

Mark Walport,

Director

Wellcome Trust

The £9 million study, funded by the world’s largest medical charity, the Wellcome Trust, involved 50 research groups and 200 scientists.

Over the two-year course of the project, they analysed almost 10 billion pieces of genetic information and found that 24 genes play a significant role in these seven disorders, including heart disease and hypertension.

A logistical tour de force

Bringing all these samples together is a logistical tour de force, highlighting the way in which the UK’s National Health Service (NHS) provides the framework for collecting clinical samples and data in a way that other countries cannot match.

In particular, the National Blood Service organised a new collection of 3,600 fully consented blood samples.

We are now able to effectively scan most of the common variation in the human genome and look for variants associated with diseases

Peter Donnelly

Oxford University

“We have done genetics at a scale it has never been done before,” says Mark Walport, director of the Wellcome Trust. “This study has shown you can identify those genes that cause common diseases like Crohn’s and diabetes.”

Walport says it is clear that individual groups studying small numbers of patients would not have been able to produce these results.

The genomic differences

Oxford University’s Peter Donnelly, who chaired the project, says, “Before, you could turn on the lights in a small number of places. What’s new is the ability to turn on half a million lights. You get to see a large proportion of the variation in this way.”

Comparing the DNA of people with a disease with healthy controls highlights the parts of the genome that are different.

In time, people could be screened to find out who is most at risk and be advised on changes to lifestyle.

The genes are also possible targets for use in discovering new drugs.

The value of UK Biobank

The next stage of the Wellcome study will look for genes associated with tuberculosis, breast cancer, thyroid disease, multiple sclerosis and ankylosing spondylitis

“This research shows that it is possible to analyse human variation in health and disease on an enormous scale,” says Walport.

It also highlights the importance of the £60 million UK Biobank study – which has the Wellcome Trust and The Department of Health among the organisations funding it – which is collecting blood samples and lifestyle data from 500,000 middle-aged volunteers.

The aim is to understand the links between health, the environment and genetic variation.

“We are now able to effectively scan most of the common variation in the human genome and look for variants associated with diseases,” says Donnelly.

“This approach will undoubtedly herald major advances in how we understand and tackle disease in the future.”