Government backs massive new £300m gene sequencing project
Experts believe entire population of Britain could benefit within a generation
Steve Connor is the Science Editor of The Independent. He has won many awards for his journalism, including five-times winner of the prestigious British science writers’ award; the David Perlman Award of the American Geophysical Union; twice commended as specialist journalist of the year in the UK Press Awards; UK health journalist of the year and a special merit award of the European School of Oncology for his investigative journalism. He has a degree in zoology from the University of Oxford and has a special interest in genetics and medical science, human evolution and origins, climate change and the environment.
Friday 01 August 2014
England is poised to take a giant leap into the brave new world of genomic medicine, wherein everyone will eventually have their entire three billion letters of their genetic code unravelled in order to diagnose, treat and even predict future illnesses.
David Cameron said he is personally backing a research project to sequence 100,000 genomes of NHS patients in England by 2018, which some experts believe will become a national testbed for sequencing the genomes of the entire UK population within a generation.
However, the Government organisation behind the £300m initiative warned yesterday that people will have to be prepared to allow drug companies to have access to their genomic data, which the NHS is planning to make available to private industry under a commercial deal.
Genomics England, the wholly owned NHS company set up to run the project, said it is in discussions with drug companies and will try to enforce strict confidentiality of patient data. However, industry will need access to non-identifying details of peoples’ genomes in order to make advances in drugs and treatments, it said.
“If innovative treatments are to be found to extend or save lives then commercial companies will need to invest in the research, development and manufacture of new drugs and diagnostic tests,” Genomics England said.
“It has always been the case that this work is carried out in the commercial sector and not by Government or within the NHS itself,” it said.
Mr Cameron announced the 100,000 genomes project two years ago but yesterday he confirmed the financial arrangement that will see nearly £300m being poured into the initiative to build, equip and support a dedicated gene-sequencing facility in Cambridge.
“I am determined to do all I can to support the health and scientific sector to unlock the power of DNA, turning an important scientific breakthrough into something that will help deliver better tests, better drugs and above all better care for patients,” Mr Cameron said.
However, the Prime Minister made it clear that he also sees the initiative as an important stimulus for the UK economy, aided by the fact that the NHS holds enviable volumes of non-identifiable patient data that could be “mined” commercially by the private sector.
“As our plan becomes a reality, I believe we will be able to transform how devastating diseases are diagnosed and treated in the NHS and across the world, while supporting our best scientists and life-science businesses to discover the next wonder drug or breakthrough technology,” he said.
Although 100,000 genomes will be sequenced, only about 40,000 NHS patients will be involved. The parents of patients with rare diseases will also have their genomes sequenced, and NHS patients with cancer will have two genomes sequenced – the genome of their tumour and the genome of their healthy tissue.
The primary aim of the research project is to compare and contrast the genomes of people with rare illnesses or cancer in order to identify and understand the smallest DNA changes that are implicated in the onset, development or diagnosis of the condition.
A secondary element is to provide the doctors of the patients taking part with any genetic information that may be relevant to their care and treatment – but it is not yet designed to provide a risk assessment of future diseases, said Genomics England.
Jeremy Farrar, the director of the Wellcome Trust research charity, which has invested more than £1bn in genome research over the past 20 years, said that it is “inevitable” that everyone will eventually have their genome sequenced and that the genomic information will be used routinely by GPs and hospital doctors.
“Without this sort of project, which isn’t going on anywhere else in the world at this scale, you’re never going to know whether it’s worth [sequencing everyone’s genome],” Dr Farrar said.
“I think the public will demand it and the cost of doing it will be trivial, almost to the point of it being free. So I think it is inevitable in the working lives of young clinicians today that at some point in the future a GP will hold your whole genome,” he said.
The financial package to support the project involves Genomics England paying the American gene-sequencing company Illumina £78m in return for an investment by the firm of £162m over four years in genetic sequencing.
The Wellcome Trust will invest £27m in the new gene-sequencing facility on is Sanger Institute campus in Cambridge while the Medical Research Council will spend £24m on the “computing infrastructure” to collect, store and analyse the vast amounts of genomic data generated by the project.
Dr Farrar said: “Understanding humanity’s genetic code is not only going to be fundamental to the medicine of the future. It is an essential part of medicine today. In rare congenital diseases, in cancer and in infections, genomic insights are already transforming diagnosis and treatment.”
Q and A: Genomes
What is the 100,000 genomes project?
It is a Government-led initiative to sequence the full genetic code of about 40,000 NHS patients and their relatives. The patients fall into two main groups: those with rare diseases and those with cancer. The parents of patients with rare genetic diseases will also have their genomes sequenced, and patients with cancer will have two genomes sequenced – the genome of their tumour cells and the genome of their healthy cells – which brings the total to 100,000 genomes of about 75,000 people.
Why is this being done?
It is primarily a research project to tease out the minute changes in the DNA of the human genome that are involved in some way with the onset or development of disease. By studying many thousands of genomes, and comparing their detailed genetic sequences, scientists hope to pinpoint mutations or DNA “polymorphisms” that could lead to a greater understanding of the condition. Eventually this will lead to better diagnostic tests, drugs and treatments.
Who is doing it?
The Government has established a company called Genomics England, which is wholly owned by the NHS, to run the project. It is working closely with the Medical Research Council and the Wellcome Trust, the medical research charity that co-funded much of the initial work that led to the first human genome being sequenced in 2003. The pharmaceutical industry is also being invited to take part and it will have access to non-identifiable genome data under special licences or order to develop new products.
Can anyone take part?
Children with rare genetic diseases, and their families, as well as cancer patients will be invited to take part. At least 80 per cent of rare diseases have a genomic basis, which is why studying the DNA of these children and their families should help to point to new treatments for these devastating conditions. Similarly, cancer is fundamentally a genetic disease – although not always inherited – because it results from changes to a person’s DNA that can trigger healthy cells to become tumours.
How confidential is the genome data?
Genomics England emphasises that it will take every precaution to protect patient confidentiality. Raw genome data will not be taken away from its computers and a patient’s identifying details will be encoded to ensure anonymity. However, participants will be told that they must be willing for commercial companies to conduct research on their anonymised data.
Genome sequencing - how it works
Sequencing the human genome is another way of saying that the genetic code of the DNA molecule is “read” letter by letter, until all three billion letters are written down in the right order.
Today this process is done by machines and computers that can automatically break up the DNA molecule into smaller, manageable fragments which are then sequenced several times to ensure accuracy.
The patient only has to supply a blood or tissue sample and scientists then isolate the DNA within the cells before putting it into the gene-sequencing machines.
Originally it took many years and many hundreds of millions of pounds to sequence a full genome, but now it can be done in a few days for less than £1,000.
Now, gene sequencing has become a relatively straightforward procedure and is getting cheaper and faster. The real difficulty lies in making sense of the genomic information, and in designing software that can see patterns in the DNA that are too complex for the human eye.
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