Ethics guidelines for population genetics research

Large-population biobanks and their related databases have multiplied in recent years. The United Kingdom, Estonia and Iceland have led the way, and others are expected to follow soon. Even an international consortium, the HapMap Project, is currently regrouping partners from six countries and comparing haplotype variations in various populations around the world.

CARTaGENE is a population genomics project that plans to map genetic variation in a large reference population of Quebec. At the request of its leader, Claude Laberge, a multidisciplinary research team from the Genetic and Society Project (University of Montreal) has been studying the ethical and legal challenges that are raised by population genetics research. The team has found that despite the existence of many guidelines on genetics research, none was tailored to the specific challenges raised by these types of project.

The research team therefore drafted a Statement of Principles on the Ethical Conduct of Human Genetic Research Involving Population1. The statement, which was developed by a multidisciplinary team composed of M. Deschênes, G. Cardinal, B. Knoppers, T. Hudson, D. Labuda, G. Bouchard, É. Racine, C. Fecteau, S. Truong and C. Laberge, includes a vision of ethical conduct in population genetics research, based on ten fundamental principles that should be upheld in undertaking these types of project: individuality, diversity, complexity, reciprocity, solidarity, security, accountability, equity, citizenry and universality. The principles are articulated in practical recommendations and procedures to guide researchers in setting up these types of project. The statement covers topics such as consultation, recruitment, consent, confidentiality, governance, communication of research results, commercialization and contribution to the welfare of the population and of humanity.

Let us consider public consultation. In a population genetics research project, the entire population must be recognized as an important partner. Early international experiences have shown that public consultation is key to the overall success of such projects. Indeed, although the whole population (including participants and non-participants) will eventually benefit from such initiatives, it is also collectively taking potential risks. In addition, an important amount of public and private research resources must be devoted to a population genetics research project. These types of initiative need consent not only from the participants, but also meaningful public support and engagement. Open and continued dialogue, throughout the project, will help to foster the trust of the population; it can even serve as a preparatory stage for individual informed consent.

According to the statement: “Respecting the principles of reciprocity, diversity and accountability requires that research on a given population be based upon an open dialogue between the population and the research team. A guiding mechanism for population genetic research is prior and ongoing public consultation.” In suggesting how to implement these recommendations, the statement emphasizes the importance of a proper information and public-engagement process that will enable the public to take part in the debate and voice their concerns or support for such a project.

Setting up a population genetics research project poses a scientific and logistic challenge, but also a legal and ethical challenge. Statements such as the one based on the CARTaGENE project promise to provide useful guidance to the research community and their partners, including participating populations.