Key Issues in Genetic Epidemiology: Lessons from a UK Based Empirical Study
Haimes, Erica, Whong-Barr, Michael, Trames
Population-based genetic research aims to study gene-disease associations and genetic polymorphisms. By combining genetic samples (taken from blood or tissue) with medical, genealogical and lifestyle information, researchers hope to better understand disease causation and to develop improved methods of diagnosis and treatment. Such studies are a growing area of international research (Austin, et al 2003). In 2004, the world's largest proposed gene bank, UK BioBank (UKBB), plans to start collecting DNA samples from 500,000 British men and women aged between 45 and 69. As one might expect, however, gene banks raise a number of ethical, legal, and social issues. A key question for policy-makers and practitioners is how to create a climate in which potential health benefits can be realized without harming the interests of donors. In order to be successful, biobanks must achieve high rates of participation. Thus, a central question concerns the acceptability of databases to the public (Lowrance 2001).
This paper addresses critical issues in DNA banking by using the UK-based North Cumbria Community Genetics Project (NCCGP) as a case study. The NCCGP was a collaboration between the University of Newcastle and Westlakes Research Institute in north-west England. From January 1996 until April 2003, pregnant women in West Cumbria were informed of the project by their local community mid-wife and were asked to provide written consent prior to giving birth. The NCCGP collected blood and tissue samples from the umbilical cord of newborn babies, maternal blood samples (from 1999) and personal health information derived from questionnaires (Chase et al 1998). The samples were frozen and stored for future use, so that the NCCGP can provide a resource of DNA samples for other researchers to use in genetic epidemiological studies (which so far include investigations on heart disease, breast cancer, and neural tube defects) (1).
The NCCGP enjoyed a high response rate. Nearly ten thousand samples were collected, which means that nearly 90% of the pregnant women approached agreed to provide umbilical cord samples and maternal blood specimens (Chase et al 2000). However, only 60% of those approached completed the 'mother's questionnaire' (a health and lifestyle questionnaire for the woman and her partner) as well as donating samples. Such response rates could be thought as curious, given the ethical concerns often raised about DNA banking, such as informed consent, confidentiality and security of data, the potential for misuse and abuse of samples, third party access, feedback to donors (House of Lords 2001).
Our study, funded by the Wellcome Trust, sought to compare and contrast the perceptions and attitudes of those who have agreed to donate samples to the North Cumbria Community Genetics Project (NCCGP) with those who have declined. This has provided much needed empirical data to add to normative discussions of why people do and do not donate. It was based on the premise that we know little about the views of those who have actually been asked to donate to a genetic database and that policy-makers and researchers would benefit from an investigation that opened up the 'black box' of the social processes that lie between the request to donate and the collection of samples and information. As well as addressing original questions regarding donation and participation, our research enables us to address a wider set of issues including the nature of 'informed consent', 'altruism', and 'benefit-sharing'.
The fieldwork for our study involved semi-structured qualitative interviews with forty-three women who donated tissue samples to the NCCGP, seven who refused, seven NCCGP team members, two members of the NCCGP's Ethics Advisory Group, two focus group discussions involving ten community midwives, and three members of local community groups that opposed the NCCGP when plans for it were first announced in the early 1990s. …