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Wellcome Trust Literature Review: Ethical, Legal and Social Issues Arising From the Use of GWAS in Medical Research

This literature review, produced by researchers from HeLEX and Ethox, was commissioned by the Policy Unit in the Wellcome Trust to identify the key issues that have been raised by the use of genome-wide association studies (GWAS) in genomics research.

The use of GWAS in genomic research gives a new twist to the issues of consent, feedback of results, privacy, the governance of research and property rights. This is because GWAS:

  • produces fine, detailed, sequence information at a resolution not possible before, and the same results potentially can be used to determine an individual’s genetic variation for a range of conditions;
  • the information from a GWA scan is derived from DNA (deoxyribonucleic acid) that is a unique personal identifier, which can not only provide information on the individual, but also on the individual’s relatives, related groups and populations;
  • this technology is becoming cheaper, more available and more powerful;
  • GWA creates large amounts of individual-specific digital information that is easy to share across international borders, and can potentially be used for a number of different research purposes.

The GWAS methodology is being used within a research context where there is an increasing accumulation of samples and information being held in biobanks, or stored for use in hypothesis-led projects, and in large international consortia. This has led to the creation of ‘networks within networks’ where information can be compared, used and exchanged between researchers. This is necessary to support the developing scientific agenda and the recognised need for large sample sizes in order to understand the genetic basis of common diseases. Funders have been instrumental in facilitating and supporting such trends, with the creation of genomic reference libraries such as the Human Genome Project, and the introduction of data-sharing policies to facilitate the secondary use of datasets, with the aim of increasing scientific advances. It is also likely that in the future, scanning of an individual’s whole genome will be possible for a small cost, due to better and more efficient technologies.

The social context in which GWAS is being used is also changing very quickly and developments in medical research are intimately bound up with current trends in society. More and more information is being placed on the web, through social networking sites such as Facebook. Individuals have greater access to their own genomes through companies such as 23andMe, deCODEme, DNA Direct and Navigenics, as well as ancestral tracing companies. In addition, there is an increasing concern in society about the way that personal information is being collected and used for surveillance purposes, but also mishandled by government agencies within the UK (Whitely, 2008). These events outside of medical research cannot be ignored, as they could potentially have an effect on the medical research context, which in the case of an unfavourable event could undermine the public trust and support that is necessary for medical research to continue and to thrive.

The scope of this literature review

We have focused on eight key issues – consent, feedback of incidental findings, data sharing, privacy, governance of research, property rights in the body, intellectual property rights and public engagement – in order to identify the ways in which GWAS and data sharing change these issues. We have identified the key papers that have discussed GWAS and attempted to bring out the ethical, legal and social issues that they raise. For the legal research, we have focused on UK law, and updated the comprehensive research that was carried out by Cara Tetlow at the end of 2008 and presented in two memos to the Trust. These are entitled ‘Human Tissue Act and consent’ and ‘Ethical and legal considerations with respect to reporting back the results of research using DNA data’. This update reflects the UK cases decided in the first two months of 2009, as well as adding some additional key decisions that have a bearing for the use of GWAS. The focus is on the law that relates to privacy and data protection and we have not covered the Human Tissue Act in depth, as acellular, subcellular and genetic materials – such as extracted DNA – all fall outside the definition of ‘relevant material’ and the scope of the Act. We have focused on the law in this way because the sharing of GWAS and secondary research is largely concerned with digital information rather than DNA. Also, we have not attempted to cover the plethora of guidelines in this area due to the time available, although we recognise that these are intrinsic to any judgment that a court would make in deciding a negligence case.

This report is not comprehensive, due to the time that we had available and the fact that this is a fast moving area. There are a number of references to unpublished work or papers in press that the authors have written in this area. This piece of research was carried out over eight weeks from the beginning of February 2009 and submitted to the Wellcome Trust on Monday the 23rd of March 2009. Dr Jane Kaye has managed and co-ordinated this research and is responsible for the final content and format. Dr Heather Gowans carried out the research to update the legal analysis of the Wellcome Trust memos and Dr Karen Melham carried out the wide-scale literature review to provide the background for the written research. A meeting was held with Dr Jane Kaye, Dr Paula Boddington, Jantina de Vries, Dr Heather Gowans, Naomi Hawkins, Dr Catherine Heeney and Dr Karen Melham to discuss these findings. Various sections were allocated to each member of the team to write up.

Our final caveat is that this paper cannot be construed as legal advice. Professional legal advice should be obtained before taking or refraining from any action as a result of the contents of this document.

Full paper

Ethical, Legal and Social Issues Arising from the Use of GWAS in Medical Research
Dr Jane Kaye (HeLEX), Dr Paula Boddington (Ethox), Jantina de Vries (Ethox), Dr. Heather Gowans (HeLEX), Naomi Hawkins (HeLEX), Dr Catherine Heeney (Ethox), Dr Karen Melham (Oxford Bioethics Network)