Book Review: Ethical Issues of Human Genetic Databases - A Challenge to Classical Health Research Ethics?

For those of you perhaps unfamiliar with the existence of human genetic databases, they are exciting, but controversial, endeavours by some countries to build upon the successful mapping of the human genome. The organisers and funders of genetic or DNA databases (DNA databanks) aim to collect and store the DNA of individuals alongside their physical, emotional, familial, lifestyle and genealogical information.

The beauty of Bernice Elger's rather excellent take on such databases, gathered together in her book the 'Ethical Issues of Human Genetic Databases', is that she gets right to the crux of the matter. Here we have an in-depth and detailed study of some of the more well known DNA databanks such as the infamous, now bankrupted, Icelandic database DeCOde Genetics; the UK BioBank; the Estonian database and a small Swiss Paediatric Tumour Bank (which, to be honest, I hadn't heard of). With a background in sociology I find myself wanting to quibble a little with the justification for studying these specific examples - Elger writes, 'limiting the analysis to genetic databases of which the details have been most widely analysed'. But that is a minor grumble.

DNA databanks are testament to the generally interdisciplinary type of scientific research that is context driven and focusing on a specific problem (1). To the bankers, there is no defined purpose for the DNA/info combo. This is where I feel the ethics then become enmeshed in a 'Jenga' type construction puzzle. The participants of the DNA databases are asked for a sample of their blood, and to provide lifestyle information, with the aim that it will help understand, or even offer cures for, diseases that are yet to be determined. This allows unknown researchers and possibly even some organisations that they would deem 'unethical' (for example pharmaceutical or insurance companies) to access them.

This requires an 'open' version of consent (as opposed to 'informed' - assuming such a thing exists) from participants, allowing DNA databases not to specify future or particular uses. This is not due to unwillingness but inability. The 'check' is generally provided by the suggestion the purpose will be medically related and reviewed by an ethics committee. As some participants may not be convinced about this type of review process there must be an option for withdrawal. Setting aside the fact that withdrawal may come too late (for instance after the data and samples have been used for a particular purpose), the fact the option to withdraw has to be given means that 'anonymity' must be reversible. Otherwise it would be impossible to identify the data and sample to be removed.

But back to Elger's book, which I believe is fundamental reading for anyone hoping to understand the development of such an ethical quagmire, and the potential solutions. In the first section she offers a detailed historical account of the development of these DNA databases. You would be hard pushed to find a clearer, more detailed study than this.

In the next section she focuses upon some key ethical questions raised by participation in DNA databases, revolving around consent, confidentiality, feedback to individuals regarding their propensity to inherit a disease, and finally whether benefits from the database should be shared. This is contextualised in the traditional principles of research ethics such as autonomy, beneficence, non-malifience and justice (the funky sounding 'Georgetown Mantra').

Finding a role for these classical research ethics in guidance, Elger argues there is no need to supplement them with new ones such as altruism, solidarity and familial mutuality, as has been the case by organisations such as the Human Genetics Commission (2) or the HUGO 2000 (3) statement on benefit-sharing. She does not find them sufficiently justified or necessary. I would be more reluctant to disown solidarity, and find the recent report for the Nuffield Council by Prainsack and Buyx (4) provides a defence of it.

I have to say I was a wee bit disappointed not to have the ownership issue tackled head on. For example, if the point is that the ethics of DNA database are more difficult because it is related to DNA/info combo and not human subjects per se then the implications of ownership becomes a pertinent one. Elger takes it off the ethical radar and places it firmly onto the legal one, which is fair enough.

There are also 38 continuous pages of tables, which is a lot for anyone to take in. But it is a useful resource listing international guidelines and whether they are, for example, principle based - and one that can easily be searched and skimmed through for a particular reference. To be truthful I did not have the appetite to read it in entirety.

It would be churlish of me to want the legal and social issues included in Elger's discussion (thereby formulating the prerequisite ELSI, Ethical, Legal and Social Implications [Research Program], that is generally attached to DNA databanks). This was a book about the ethics of human genetic databases. Most importantly, this book will remain on my bookshelf as an extremely useful addition to the DNA database literature. So, I'm afraid you'll need to buy your own copy as I am not loaning my own out. Sorry.

Buy Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics? from Amazon UK.