LONDON Anyone anticipating an announcement that the UK is soon to follow Iceland, Estonia and Tonga by searching the population's gene pool to crack health problems will have to wait a little longer. The UK Biomedical Population Collection has been in gestation for two years so far and it's likely to be at least another 12 months before the full protocol is ready to be unleashed on Britons.
Speaking this week at a briefing for journalists, however, Martin Bobrow, professor of medical genetics at the University of Cambridge and a member of the scheme's Working Group, gave some indications of what shape the project will take and the issues that still need to be addressed before it is given the green light.
The project is a collaboration between the Wellcome Trust, the Medical Research Council (MRC) and the Department of Health. The aim is to map the genes of half a million volunteers and to see how these interact with lifestyle and environmental factors to influence health.
To speed up the process the team is looking to recruit volunteers aged between 45 and 64, rather than younger people. Lifestyle information such as diet and physical activity will be gathered at the start of the study and tracked against volunteers' medical records as well as biochemical and genetic data obtained from tissue samples.
In contrast to the 'Iceland case' — where a private firm deCODE genetics was given unlimited and legally-backed access to the population's medical records and genetic data without needing consent from those involved — the UK team has made public consultation a priority. Individual consent is a pre-requisite and discussions with the public as well as health professionals are shaping the scheme's structure.
Although a long way off, the results are likely to be two-fold, according to Tom Meade, Director for the MRC Epidemiology and Medical Care Unit in London and chairman of the Working Group. They will provide information on how lifestyles can be altered to improve health and also give birth to a new speciality — pharmacogenetics — where genetic information is used to match patients to drug therapies that work best for them.
"Recent advances in genetics, including mapping the human genome, are almost certainly going to provide exciting opportunities to develop major new advances in medicine," said Meade. "We know the public want to benefit from new advances in medicine but we also recognise serious social anxieties have been expressed. These anxieties have to be addressed, so public consultation is essential if this project is to succeed — it is not just window dressing. Developing a database of this kind would simply not be possible unless there is widespread public understanding and acceptance of the objectives and methods."
Part of that public consultation is already under way. Last year the Wellcome Trust and MRC commissioned some market research to get a sense of how the UK public feels about handing over their medical records and pieces of tissue in the name of science. In general the responses from the 150 interviewees were positive. The aims of the study were deemed admirable, especially by those people who had experienced health problems.
What people were most concerned about was confidentiality, anonymity and the right to feedback once results from the study start to emerge. There has never been a question that full consent will be obtained from all participants of the study and the breadth of consent will be all-inclusive. "Participants will have to agree to take part for all diseases. There will be no opt-out clause, for example, if a person is happy to be tracked for ingrown toenails but not for cancer," explained Bobrow.
Anonymity, too, will be guaranteed. The data will be held by the Wellcome Trust and the MRC, not by a private company. To supervise policies on access to data and samples the funding partners plan to establish an independent monitoring committee. This will be empowered to police the rules of anonymity and confidentiality and will have the right to veto any action it judges to be unacceptable.
But anybody considering volunteering for the study in the hope that they would be tipped off if they were found to be at risk of developing a serious health problem will have to think again. Direct feedback of results to individual members of the study population is not a possibility. Although the precise details on the level of feedback are still being discussed one thing is for sure — those who take part should think of their samples as a gift to society that may help future generations combat disease. Taking part is unlikely to help participants personally. "We can't operate a study like this on the understanding that there will be feedback of results to individual people. Those who take part have to understand that they will not gain any personal health information," said Bobrow.
The cost of the scheme has not yet been finalised as all funding will not be secured until the final protocol is approved.
The impetus for the scheme has been the unravelling of the human genome. And although it may be some time before useful results are gleaned from the collected data there is excitement among the scientific community about the study.
John Sulston, former Director of the Wellcome Trust's Sanger Centre commented: "It is the interplay between nature and the environment that is absolutely crucial to determining our susceptibility to illnesses such as cancer and heart disease. It is quite simply wrong to suggest that either one can be considered in isolation from the other. The information gained from the proposed patient information database will build on the foundations provided by the Human Genome Project and in the long term lead to real healthcare benefits."