Memorandum by Dr Paul Martin
THE INDUSTRIAL DEVELOPMENT OF HUMAN GENETIC
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.
This was published as a report "The Use of Biological Sample
Collections and Personal Medical Information in Human Genetics
ResearchIssues 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
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
There is no coherent UK policy framework
governing the creation and use of genetic databases by the private
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.
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
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
A WIDE RANGE
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
Publicly funded research studies
into the genetics of common diseases.
Family collections linked to genetic
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
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?
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.
UK POLICY FRAMEWORK
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?
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
22 The opinions expressed here are solely those of
the author, Dr Paul Martin, and do not represent the views of
my collaborator (Ms Kaye), the funder of the original research
(the Wellcome Trust) or my employer (the University of Nottingham). Back