BACKGROUND

  1.  This submission is a development of work initially carried out with Jane Kaye (University of Oxford) for the Wellcome Trust's Medicine in Society Programme[22]. This was published as a report "The Use of Biological Sample Collections and Personal Medical Information in Human Genetics Research—Issues for Social Science Research and Public Policy", a copy of which is attached to this submission and will subsequently be referred to as "the Wellcome report" [not printed].

  2.  The Wellcome report goes into extensive detail about several issues directly related to this inquiry, including: the scientific uses of human genetic databases (section 2.1); the experience of Iceland (section 3.1); current and planned research in the UK using these resources (section 3.2); the regulatory framework governing them (section 4) and key questions for public policy (section 5).

  3.  Several issues arising from this study should be highlighted as being of significant importance for public policy:

—  There is extensive and increasing use being made of human genetic databases by biotechnology, genomics and pharmaceutical companies.

—  There is a wide range of public sample collections being commercially exploited by the private sector to create genetic databases.

—  Serious conflicts of interest are emerging around the creation of these resources.

—  It is not possible to easily separate the use of genetic data and personal medical information in genetic databases.

—  There is no coherent UK policy framework governing the creation and use of genetic databases by the private sector.

—  The experience of Iceland highlights the importance of transparency, public debate and strong oversight mechanisms to ensure broad public support for human genetics research by the private sector.

THE INDUSTRIAL USE OF GENETIC DATABASES

  4.  Biotechnology, genomics and pharmaceutical companies are making increasing use of human genetic databases created by the integration of genotype data and personal medical information (see diagram below) [not printed]. A list of some of the leading European companies in this area is given in Table 1 [not printed], and includes details of their research strategies and the sample collections and personal medical information they are using. In addition, a number of US companies have been recently formed to commercially develop human genetic databases, including DNA Sciences, Genomics Collaborative, and Framingham Genomic Medicine.

  5.  The main commercial interest in establishing these resources is the development of association genetics (see Wellcome Report section 2.1) and the search for genes and genetic markers correlated with their specific diseases or particular responses to drug therapy (pharmacogenetics). The companies establishing and operating these databases will generally sell this information to large pharmaceutical companies to help facilitate drug discovery and development.

A WIDE RANGE OF PUBLIC SAMPLE COLLECTIONS ARE BEING COMMERCIALLY EXPLOITED TO CREATE HUMAN GENETIC DATABASES

  6.  The information in Table 1 illustrates the very large-scale use of biological samples by companies to create genetic databases. With few exceptions industry is completely dependent on the public sector (ie health services and academic research) or voluntary donations for these resources. Sample sources include:

—  Publicly funded research studies into the genetics of common diseases.

—  Family collections linked to genetic services.

—  Pathology specimens collected during routine medical work.

—  Samples given during clinical trials of new medicines.

  7.  Furthermore, many companies are also sponsoring the creation of new collections through the funding of academic clinical collaborators (eg deCODE Genetics) or by collecting DNA samples as part of clinical trials of new medicines (eg Glaxo Wellcome). In one high profile case a US company (DNA Sciences) has appealed directly to the public to donate their samples and some personal medical information in order to establish its own proprietorial genetic database.

  8.  It is notable that many sample collections previously developed over long periods of time as part of the routine work of academic researchers and clinicians have acquired a new and significant commercial value by the development of genotyping technology and association genetics. As a result, there have been unsubstantiated reports of UK public sector researchers being approached by foreign biotechnology companies to sell their sample collections. It should also be stressed that whilst these publicly funded collections generally remain in the public sector, the databases built from them are proprietorial. This raises questions about the economic and social return that might be expected from the "for profit" use of resources derived from voluntary public donation.

SERIOUS CONFLICTS OF INTEREST ARE EMERGING AROUND THE CREATION OF GENETIC DATABASES

  9.  In many cases public sample collections have provided the basis for the creation of new genomics companies. For example, in the UK some of the resources developed at the Wellcome Trust Centre for Human Genetics at the University of Oxford were important for the creation of the firm Oxagen. In Iceland deCODE Genetics was established to exploit samples and personal medical information held in the Icelandic healthcare system. Exclusive access to the internationally recognised Framingham study into heart disease in Boston (USA) provided the commercial foundation for the formation of Framingham Genomic Medicine.

  10.  The Framingham case, in particular, has raised important questions about academic conflicts of interest. For example, to what extent can research resources built-up over decades using public funds, and based on biological samples and personal information donated by research participants, be exploited for profit? Can the academic custodians of these resources financially benefit from their commercialisation? Who ultimately owns the data generated from such collections?

IT IS NOT POSSIBLE TO EASILY SEPARATE THE USE OF GENETIC DATA AND PERSONAL MEDICAL INFORMATION IN GENETIC DATABASES

  11.  In all cases the companies creating human genetic databases require the integration of genotype data gathered from biological sample with personal medical information. This is a key point, which many policy discussions have overlooked, as it is in practice not possible to neatly separate the use of biological sample collections from the use of personal medical information. Inherent in the process of creating human genetic databases for association genetic studies is the integration of both types of data. Public policy issues regarding the commercial use of personal medical information are therefore central to any discussion of this area.

  12.  Another key distinction which needs to be clearly established in analysing the issues raised by the development of human genetic databases concerns the extent to which data derived from biological samples and medical records is truly anonymous. The US National Bioethics Commission in its consideration of the use of biological samples in genetic research has made three distinctions: 1. Samples where the donor is clearly identified; 2. Samples which are coded or "anonymised" and where the donor can in principle still be identified; and 3. Samples stripped of all identifiers and which are truly anonymous. A similar set of distinctions can also be made regarding the use of personal medical information. The ethical and legal issues surrounding the use of each of these types of samples/personal information have been explored in Jane Kaye's contribution to the Wellcome Report (see section 4). Given that a number of the proposed databases are only using anonymised data (eg deCODE Genetics, the UK Population Biomedical Collection) and are prospective in nature, they raise important issues about the governance and regulation of such information. For example, in Iceland there has been serious public concern about the possible misuse of the Health Sector Database given that the information contained in it is only coded and is not truly anonymous.

THERE IS NO COHERENT UK POLICY FRAMEWORK GOVERNING THE CREATION AND USE OF GENETIC DATABASES BY THE PRIVATE SECTOR

  13.  The Wellcome report describes in some detail the regulatory framework which has been established in Iceland to govern the creation and use of DNA sample collections and genetic databases by the private sector (see section 3.1). This provides for a clear statutory framework for these activities, including agencies with a mandate to ensure that the Health Sector Database is operated in an ethical manner and according to the principles established by law. In contrast, the UK regulatory framework governing genetic databases is incoherent, piecemeal and poorly developed (see Wellcome Report section 4).

  14.  Despite this lack of a clear regulatory framework, some UK biotechnology companies involved in creating genetic databases have developed models of good practice. For example, Oxagen has adopted carefully considered policies on the ownership of data and samples, consent, the collection and storage of data, and its relationship with clinical collaborators (see Wellcome Report section 3.2). However, such initiatives still leave many important policy questions unresolved. For example how would a genetic database created using information derived from clinical pathology samples, such as that being developed in the USA by Genomics Collaborative, be governed in the UK?

THE EXPERIENCE OF ICELAND HIGHLIGHTS THE IMPORTANCE OF TRANSPARENCY, PUBLIC DEBATE AND STRONG OVERSIGHT MECHANISMS TO ENSURE BROAD PUBLIC SUPPORT FOR HUMAN GENETICS RESEARCH

  15.  Perhaps the most important conclusion reached in the Wellcome report was the need to ensure that the development of both public and private human genetic databases in the UK is done in such a way that they will command broad public support. Given the recent problems with the introduction of field trials for GM food, there is a strong case for arguing that there has been serious erosion of public trust in the institutions regulating emerging biotechnologies. Furthermore, recent controversies surrounding events at Bristol Royal Infirmary and Alder Hey Hospital, as well as the Harold Shipman affair, have also raised questions about the governance of the medical profession. In such a climate it is vital that potentially controversial medical research is handled in a manner which is sensitive to public opinion. This is particularly important in the case of genetic databases that depend heavily on the large-scale voluntary public donation of biological tissue.

  16.  The recent experience of events in Iceland concerning the activities of deCODE genetics and the proposed creation of the Icelandic Health Sector Database highlight the need for transparency in decision making, widespread consultation and public debate, and strong oversight mechanisms. Such an approach to policy in the UK could help ensure that genetic databases are well supported, function in an ethical manner and provide genuine benefits.

October 2000