Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics (review)

This book is the latest offering from Bernice Elger, who has written extensively on the ethical and regulatory issues surrounding human genetic databases. Her previous offerings have included the edited title Ethical Issues in Governing Biobanks: Global Perspectives (2008), in which Elger et al. reported on the results of a large qualitative study into international frameworks governing biobanks. As with her previous work, this latest book provides a rigorous analysis of the ethical issues that is well-structured and coherently laid out, making it an important contribution to a debate that is often mired in sensationalist controversy.

The book is structured around five chapters and opens with a foreword by Art Caplan, who underscores the importance of Elger’s current contribution by noting the lack of rules and policies that are currently in place to govern prospective and retrospective biobanking. In the first chapter, Elger problematises the lack of regulatory frameworks that: 1) discuss, in detail, the controversial issues and the underlying ethical positions and arguments that are pertinent to the ethical governance of human genetic database; 2) are specific enough to provide practical guidance; and 3) are internationally relevant. She suggests that the efficiency of biobank research and the extent of potential risks to donors will depend on the development and implementation of an international ethical framework and “concrete practice guidelines that adapt the global framework to the needs of local research and healthcare institutions”. Limiting the analysis to genetic databases or DNA repositories that are used for purposes of medical research, the book then sets out to ask whether classical research health ethics provides an adequate framework for addressing the issues that are presented by biobanks. The adequacy and limitations of traditional research ethics in governing biobank research thus forms the central thesis of the book.

The analysis proceeds with an examination of the main ethical issues that have arisen in the context of four existing biobanks: the Icelandic Health Sector Database that faced enormous international and local criticism over (among other things) its use of the presumed consent model and its commercial relationship with the DeCode corporation; the UK Biobank that sought to learn from the mistakes of Iceland and undertook extensive public consultation and deliberation prior to its commencement; the Estonian Gene Bank that, while enjoying widespread public support, has been criticised for the lack of transparency and political independence of its ethics committee; and the Swiss Paediatric Oncology Group, which has a number of potential ethical concerns but has yet to experience any public controversy. Elger points out how the biobanks in Iceland, the UK and Estonia have had to adapt and change according to important legal and ethical aspects that have emerged in the public discourse and summarises by suggesting that “although the four biobanks have developed in different settings and with different solutions, over time the solutions have become closer to each other than they were at the beginning”. That is, biobank managers have abandoned the presumed consent model in favour of general consent, public funding is favoured over private funding, and the anonymisation of samples has become more standardised. However, important differences remain in the involvement of healthcare professionals and the feedback of research results to individual tissue providers. With the basic model for a biobank outlined, the book moves onto the analysis of existing international guidelines for human genetic databases. Elger’s analysis presents an examination of “classical” international guidelines for medical research ethics (i.e., the Declaration of Helsinki, the Belmont Report, guidelines of the Council for International Organisations of Medical Sciences and the European Convention on human rights and biomedicine) and compares them with 24 international and national guidelines that specifically concern biobanks to determine whether proposed ethical and regulatory frameworks for human genetic databases differ from classical research ethics. The results are summarised neatly in tables, which show that the majority of regulatory guidelines have adopted a principle...