A sample solutionPublic attitudes to sample collectionThe proposed UK Population Biomedical Collection raises a number of ethical and social issues. A recent consultation study sought to identify issues of concern. |
By combining information from DNA, medical records and lifestyle questionnaires, the proposed UK Population Biomedical Collection would help clarify the interactions between genes, the environment and lifestyle in the development of common diseases (see box below). Volunteers would be asked to donate a blood sample and medical details, which might understandably raise a number of questions. Who would ‘own’ the information? Would participants know what research was being done and what the outcomes were? And might others have access to the information?
An undertaking on such a massive scale - half a million UK adults are likely to be invited to donate samples - would be impossible without the full support of the general public. Hence, communication and consultation are cornerstones of the project, a partnership between the Wellcome Trust, the Medical Research Council and the NHS. As a first step in an ongoing consultation, and to help inform the planning process, the project has surveyed the public’s views about the project. An independent research group was commissioned to consult with a broad cross-section of the public across the UK, with religious and community leaders, and with spokespeople for organisations with a special interest in genetic issues.
Overall, the findings of the survey reflected generally positive attitudes to the planned study. Its purpose - to increase understanding of and provide information to combat diseases - was considered admirable, particularly by those with experience of illness in their family. Indeed, medical research as a whole was viewed positively by the people interviewed; it was generally regarded as well-intentioned and as research that focused on finding cures for diseases. Genetics research specifically was less familiar but had meaning and associations for most people - in general, the better the understanding, the more positive the view. While some thought that it was linked to cloning, genetically modified foods, and ‘designer babies’, the more informed view was that it could be very important for the identification of genetic predisposition to and prevention of disease.
The initial response to the idea of a collection of human biological samples was favourable but unconsidered: interviewees tended not to think through the project’s implications. When such implications were highlighted, concerns and fears tended to emerge, but further information and discussion of these issues tended to restore positive views. People with direct experience of illness (or their relatives) were more supportive and had fewer reservations. Religious and community leaders all had an interest in the proposed sample collection and associated issues, and overall attitudes to the proposal were accepting, although some felt that people of their faith or from their communities would have reservations about taking part. Some religious and community leaders suggested that research should look at diseases with a higher prevalence among minority ethnic groups.
The request for lifestyle information was initially puzzling and was thought intrusive; medical records were seen by many people as too personal to be handed over for use by unknown researchers. People were concerned about donors’ anonymity: in general terms, they felt uneasy about records being made available for research purposes, and they had specific worries about employers and insurers getting hold of information and misusing it. These worries were often allayed by explanation of why information would be helpful to researchers, and by reassurances of safeguards against unauthorised access.
Informed consent about how the samples would be used was seen as crucial by all groups. Most people also felt that it would be important for donors to have the option of receiving feedback on anything that emerged from their own sample, and thought that the GP would probably be the right person to deliver information. Individual feedback would be very difficult to implement - not least because it might conflict with the confidentiality of donors’ records - but people also felt that they would feel part of the project if they could get feedback on the discoveries made as a result of the research.
Overall, people felt that the key principle of the project should be ‘respect’. If they felt that the project was being done with them, rather than on them, and as long as safeguards such as informed consent and confidentiality were in place, they would be willing to volunteer.
Think of it as a massive database. About half-a-million volunteers aged between 45 and 64 years would contribute DNA samples, lifestyle details and medical information, over a period of several years, all of which would be stored on a giant database.
With all that information, researchers could begin to search for correlations between particular diseases and genetic and environmental factors. Suppose 50 000 people developed some form of heart disease: scientists could sift through all the data to see what factors they had in common - maybe a particular genetic variation or an earlier bacterial infection. Or imagine if scientists suspected that a particular genetic variation was linked to a disease: they could go back to the DNA samples and see if it was more common in people with the disease.
Genetic components have been implicated in many different conditions - cancer, diabetes, asthma and Alzheimer’s disease - and even in our susceptibility to infectious diseases. Pretty much every common disease that affects us, in fact.
Genes are not the whole story - your environment and lifestyle are just as important. Some genes will increase your risk of getting lung cancer, but smoking has a much greater effect.
The most immediate benefit is that we would be able to identify people at risk of developing disease, and they would be able to take steps to avoid falling ill or might be given medication. We’d also be able to tailor our delivery of medicines more to individuals.
Medicines don’t work in all patients, and that’s due to genetic differences between people. If we understood this variation, we could work out which drugs would work in which people, and even what doses would be best for each individual. Also, some drugs have harmful side-effects, again due to genetic factors. So if we could clarify the links between genes and side-effects, we could screen patients to make sure they weren’t given a drug that harmed them.
Indeed. In the longer term, the research would identify new targets for drug development and possibly gene therapy - tackling the root causes of disease rather than the symptoms.
No. Confidentiality is one of the prerequisites of the study. Researchers wanting to use the data will also need to gain ethical approval.
Medical researchers would certainly make good use of it to understand disease better. The biotech and pharmaceutical industries would also be interested - and their involvement is essential in the long run if we’re to get more targeted treatments or better medicines.
No. There would be a body overseeing applications to control access to the data. The samples will be held in public ownership, in trust for public benefit.
Hold your horses - it’s still early days. In June 1999, the Wellcome Trust and the Medical Research Council (MRC) agreed in principle to go ahead with planning a large population collection and established an expert working group to discuss the project’s feasibility and how the study might be organised.
The working group is currently looking at detailed scientific issues (exactly which scientific questions could be answered by the study, for example), and practical issues (in particular, how GPs and the NHS would be involved; could computerised medical records be used?). There are several ethical issues that need some thought too. Informed consent is obviously vital, but the nature of that consent needs thinking about. It’s definitely going to be a voluntary ‘opt-in’ approach, but should consent cover all future use of a sample or should researchers go back and seek consent for each use? The problem is that the DNA samples are almost certainly going to be useful in ways we can’t predict at the moment. Seeking ‘one-off’ permission would be convenient, but not everyone is comfortable with that idea.
Plenty. The amount and nature of feedback for example. Confidentiality seems to be the key issue. The public consultations are invaluable, though, in telling us what the public thinks is important, and the organisers are committed to continuing the dialogue throughout the project. That’s in everyone’s interest in the long run.
External links
- UK Population Biomedical Collection: Further information
- Medical Research Council