Genomes of 500 people to be sequenced in full detail

The genomes of 500 people with a range of diseases – including cancer, immunological disorders, and rare inherited diseases – are to be sequenced in full detail thanks to a new collaboration between researchers at the Wellcome Trust Centre for Human Genetics and Illumina, a leading manufacturer of sequencing systems.

The project has been designed to explore how whole-genome sequencing might be used in informing the diagnosis and treatment decisions for individual patients in years to come.

‘It is a really exciting opportunity to explore the potential for moving next-generation sequencing into the clinic,’ says Professor Peter Donnelly, director of the Wellcome Trust Centre for Human Genetics at the University of Oxford. ‘Overall, we will study over a hundred different conditions – we want to cast the net as wide as possible in order to learn the areas in which sequencing can make a real impact.’

‘The initiative represents a crucial step as we move towards a new healthcare paradigm in which genetic information from next-generation sequencing is likely to become much more widely used in routine medical practice.’

As the cost of sequencing the entire human genome – all 3 billion letters in our DNA codes – comes down, it is becoming possible to see a time when it becomes more routine. But although a number of individual’s genomes around the world have now been sequenced in complete detail, the scale of this project and the focus on clinical care rather than pure research puts it at the forefront of developments in the field. ‘It is a very large study by any standards,’ says Professor Donnelly.

The project will focus on conditions involving mutations that would be difficult or impossible to discover by standard genetic tests. The data generated by Illumina’s technology will be analyzed by researchers at Oxford with the aim of identifying genetic changes that can help in diagnosing disease, informing potential treatment options, and offering genetic counselling for the individual patients.

‘This collaboration represents a remarkable and very important step toward using whole-genome sequencing for translational medicine – where a patient’s individual genetic information can be used to make key healthcare decisions,’ said David Bentley, vice president and chief scientist at Illumina. ‘We are excited to be working with Oxford on this effort. This collaboration also will help Illumina advance its technology to better meet the specific needs of clinical environments.’

The collaboration will see 400 genomes sequenced at the Wellcome Trust Centre for Human Genetics in Oxford using Illumina systems. The other 100 genomes will be sequenced at Illumina’s UK site in Chesterford, Essex.

Pharma Times 4 August:

The Times online 3 August:

The Times online 3 August:

For more information on Prof Donnelly’s research, click here.