Business Weekly - Cambridge, UK

Richard Durbin, co-head of The 1000 Genomes Project.

 Researchers will catalogue key differences in human genetic data in unprecedented detail, laying the foundations for major advances in ‘personalised’ treatments for diseases such as cancer and heart disease.

Five years on from the Human Genome Project, which took 10 years to map the world’s first human genetic profile, the Wellcome Trust Sanger Institute is driving forward a project between the UK, China and the US to decode one thousand human genomes in three years.

Supported by local sequencing expertise from Illumina – previously Solexa – and the European Bioinformatics Institute, the 1000 Genomes Project will produce the most detailed and medically useful map of human genetic variation to date, making it publicly available to help radically advance disease studies.

Co-chair of the consortium, Richard Durbin at the Sanger Institute, says the hope is for treatments that will eventually be specifically tailored to particular groups of people rather than individuals.

“The work will speed up the ability to find genetic factors of major diseases – we know heart disease, cancer, asthma all have genetic contributors – that affect people around the world. In five to 10 years we will see wide-spread use of genetic information.

“Companies have been finding it hard to find new drugs with a uniform effect recently. One hope is to find a drug that works well with few side effects for a quarter or half the population. If we can use genetic diagnosis to find the appropriate group, it can help.

“Personalised treatment will not tell you that you will get something on a certain date, but form part of the treatment profile. In my view eventually it will be able to identify some of the general risk factors for common diseases and drive people who are at higher risk to be more cautious and screen more.”

The Sanger Institute will work with the Beijing Genomics Institute, Shenzhan in China and the National Human Genome Research Institute (NHGRI) Large-Scale Sequencing Network in the USA on the project, which will receive major financial support from Sanger, the Shenzhen regional government and the NHGRI, part of the US National Institutes of Health (NIH).

The project will attempt to catalogue variants that are present at one per cent or greater frequency in the human population across most of the genome, and down to 0.5 percent or lower within genes, where the changes can be more easily seen to alter gene function.

This should enable researchers to zero in more quickly on disease-related genetic variants, speeding efforts to use genetic information to develop new strategies for diagnosing, treating and preventing common diseases.

Sanger will not be directly involved in any drug discovery, but may become involved in some of the translational work.

The project is now possible, in part, to sequencing technology developed by Illumina and two other companies on the 1000 Genomes Project who have increased the rate of sequencing 100-fold at a fraction of the cost, lowering the expected cost to $50m rather than $500m, something Durbin says was unthinkable only two years ago.

“Thanks to amazing strides in sequencing technology, bioinformatics and population genomics, it is within our grasp,” said Durbin. “We are moving forward to examine the human genome at a level of detail that no one has done before.”

The first stage of the project is a pilot phase that will use about 20 per cent of the entire project spend, around $10 million internationally.

Three pilot projects will determine how to produce most efficiently and cost effectively the project’s detailed map of human genetic variation before it passes to a two year production phase.

The data produced in this second stage will pose a major challenge for leading experts in the fields of bioinformatics and statistical genetics, generating 6 trillion DNA bases: 60-fold more sequence data in three-years than has been deposited into public DNA databases over the past 25 years.

This data will be held by and distributed from the EBI and the National Center for Biotechnology Information (NCBI) in the USA. “We’re on the cusp of building an important bridge between biology and medicine,” said Paul Flicek, lead investigator on the EBI’s part of the Project.

The data samples are from volunteer donors who gave informed consent for their DNA to be analysed and placed in public databases for the HapMap project. Populations from Africa, Asia, America and Europe are included.

The detailed map of human genetic variation will be used by many researchers seeking to relate genetic variation to particular diseases. In turn, such research will lay the groundwork for the personal genomics era of medicine, in which people routinely will have their genomes sequenced to predict their individual risks of disease and response to drugs.
 

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