FUNCTIONAL GENOMICS & SOCIETY

As with other areas of science, functional genomics requires a major public investment which must make scientists accountable to society in general. This programme will be active in considering the social expectations that underlie European public funding of functional genomics research. Three areas in which society benefits from functional genomics are:
•  The increase in, and dissemination of new knowledge
•  A contribution to social welfare, understanding risks and ethical considerations
•  Fostering of economic development by technology transfer

In addition, there are specific areas where ethical and legal issues arise and where the public is involved, and one on which the programme will focus is the implications of biobanking.

Public dissemination of functional genomics knowledge
The core programme activities are devoted to research and thus to the production and communication of new knowledge. In general, there are two priorities associated with the dissemination of scientific knowledge within European society. One is that, since an ever increasing role is given to science and technology, a scientific culture is essential to provide individuals with the necessary means to make enlightened choices. A second is that most EU countries face a worrying decline in the appeal to young people of science as a career. Functional genomics is a rapidly evolving field and its developments can potentially rapidly affect individuals through diverse applications. The science and technology behind those applications should be explained to the public as they can cause curiosity, hopes or fears, but can also encourage the interest of young people in this key area of life sciences.

Social welfare, risks and ethics
We have highlighted two areas where the application of functional genomics is expected to have a direct impact on daily life, namely biomedicine and the environment. We also propose to address other issues related to the possible social impact of functional genomics. In particular, the programme will support activities that stimulate debates and propositions on the risks and ethical problems linked to the developments themselves or to the potential social use of innovations derived from the research results. These include issues raised by biobanking, where material acquired from large numbers of individuals are retained for future scientific investigation (see below).

The relationship between science and society has evolved considerably in recent years. The risks associated with the application of scientific results are now an important concern for a large part of the population and any degree of perceived risk is becoming less and less acceptable. Scientists must take this into account and will be frequently required to identify, evaluate and communicate potential risks associated with their activities. Independent of the risks which threaten human health or the environment, ethical consequences of science are a particularly acute issue in genomics and biotechnology (eg biobanks, cloning, etc). The potential of predictive medicine illustrates the possible ethical dilemmas, with the development of diagnostic approaches for the identification of individuals at risk for certain diseases. On the benefit side, this can assist in early disease detection and screening can be prioritised to individuals at risk, thereby reducing the number of false positive tests and the cost burden. But health predictions and early detection are only of value where something can be done and obtaining information where there is no remedy may well produce stress, adverse life insurance or employment implications. Ethical considerations of what should be revealed and how the information is obtained and used thus become very important in the application of possibilities opened up by genomic knowledge. Pharmaceutical companies and industry associations are addressing public concerns that commercial interests may conflict with those of individuals and accept specific responsibility to minimise risks for patients, research subjects and their families. Most research-based companies have specific policies for the conduct of genomic research, informed consent and the appropriate handling of related information. Today, pharmaceutical companies play a significant role in the advancement of knowledge in this area and in the development of an ethical / regulatory framework.

Biobanking and populations: ethical and legal issues
Genomics is dependent on the availability of large biobanks adapted to the scale of studies envisaged. As well as the biological samples and the associated databases, biobanking implies a level of openness, availability and exchange for different kinds of studies. The use of human biological samples in biobanks occurs in situations from research and technological development to medical diagnosis and therapy. In some European countries, healthcare systems, population histories and the availability of databases and personal identifiers combine to render patient sample collections excellent resources in searches for genes of importance in complex diseases. General categories of items in biobanks may be samples (DNA, tissues) from families or unrelated individuals with various degrees of personal identification, or different kinds of information attached to samples or about a group of people, such as frequencies of markers in a population. While biobanking is a growing activity in Europe , its rather loose organisation needs to be adapted to forthcoming large-scale projects. The post-genomics era also introduces changes in the way ethical issues must be dealt with, especially with the involvement of populations.

Several factors have converged to motivate the development of large population-based collections. The number of available polymorphic markers, especially SNPs, has increased enormously and automated molecular techniques, as well as the necessary bioinformatics tools, are at hand for mass screening from small amounts of material. Polymorphisms related to gene function might play a role in aetiology of common diseases and individual responses to treatment and provide clues for development of new therapies (see Pharmacogenomics). Thus results on polymorphisms become of primary importance not only to academic or medical geneticists but also to pharmaceutical and biotechnology companies. In this context the tendencies are to try to constitute large population collections that become national resources, eg Iceland, Estonia, Latvia, Sweden and UK.

Specific issues around biobanking in relation to population genomics include the following:
•  Access to a healthy population, not always in relation to medical purposes.
•  Search for a large sample size at a population level.
•  Individual informed consent versus group consent.
•  Work at an international level, with regulatory texts in different countries and cultures.
•  Organisation of sample and data banks.
•  Exchange of samples and data between research groups.
•  Interest of industrial groups in collected population samples.
•  Work done over years on the same samples, not known about at the time of sampling.

Ethics of biobanking and use of populations
The case of large populations is of special relevance in Europe where several ambitious projects have been launched. The consideration of ethical issues in such contexts is of primary importance, relating not only to the organisation of the democratic debate about science and society. Issues in biobanking were initally regarded as technical, then ethical and are now considered by regulatory authorities and at the political level. Several European countries have issued specific legislation (eg Iceland, Sweden, France, Estonia) and have national bioethics committees. The following key questions need to be addressed:
•  How to protect the rights of individuals whose samples and data are in the biobanks, alongside those of researchers.
•  How to ensure the noncommercial use of human body elements but allow the development of commercial products directly arising from the samples.
•  How to provide correct information when possible developments in future years are unknown. For large biobanks the traditional role of informed consent as an expression and protection of autonomy is challenged.
•  How to ensure quality of sample conservation and management and easy access without undue complications.
•  How to use samples optimally and openly for the rapid pursuit of knowledge, while at the same time protecting priority rights of researchers who established the collection, the need for recognition of this activity and company interests.
•  How to avoid possible consequences in terms of stigmatisation of specific groups or misuse of results and ensure a just return to the populations donating the samples.

Fostering economic development by technology transfer
It is clear that scientific research influences economic development positively, especially through industrial applications of advanced technologies. This is one reason that the EU has agreed that overall spending on research and development should be increased with the aim of approaching 3% of GDP by 2010, and a motivation for the 6th framework programme. Functional genomics is one area where the results of research find direct application in biotechnology and related life-science industries (pharmaceuticals, food, agriculture, etc). The link between research activities and economic development is particularly strong in the bioeconomy sector, which is expected to develop further during the next decades and will be a key area of economic development and employment. This is particularly true in the USA: in contrast, the EU needs to improve in this respect. To be of benefit to society, the results of academic post-genomic research will require commercial development by biotech, pharmaceutical or other life science companies.

This leads to a dilemma between the academic and industrial ways of doing things, sharing of results versus confidentiality and patent rights. Academic activity thrives where there is openness, a full exchange of information and ideas, debate and disagreement. Results should be shared and made available for the good of society, as has happened with human genome project. This does not and cannot operate in the same way in the commercial sector. How to reconcile the two is an important problem. A dual framework of separation but interaction is required, so that academic researchers are not restricted in what they can do and publish, but at the same time there is an easy transition into patenting, commercial application and development where different rules operate.