Memorandum by the Wellcome Trust
INTRODUCTION
1. The Wellcome Trust (the "Trust")
is an independent, medical research-funding charity, established
under the will of Sir Henry Wellcome and funded from a private
endowment, which is managed with long-term stability and growth
in mind. Its mission is to foster and promote research with the
aim of improving human and animal health. The Wellcome Trust supports
more than 4,000 researchers at 300 locations in 42 different countries.
In addition, as well as funding major initiatives in the public
understanding of science, the Wellcome Trust is the country's
leading supporter of research into the history of medicine.
SUMMARY
2. The Trust funds research through a variety
of different mechanisms and the full range of these are outlined
in the Wellcome Trust Grants Handbook (revised July 2000)[12].
Over the years, research involving humans and/or tissue samples
collected from them would have been eligible for funding under
the majority of the Trust's schemes as patient genetic information
has always featured as a sole or key component of many projects.
3. In a survey[13]
conducted by the Trust in 1997-98 of 1,218 researchers, there
were 843 respondents of which 400 were using and had responsibility
for collections of human samples. There were 384 respondents who
stated that their research involved the use of biological material
taken from human subjects from which DNA could be extracted and
225 were using the material for genetics research (see Appendix
1) [not printed].
4. The ownership and custodianship of these
collections and data lie either with the individual researchers
or their institution. The Wellcome Trust, acting as a funder of
research, currently has no formal ownership of, or custodianship
for, any human genetic collections or databases.
5. The proposed UK Biomedical Population
Collection in collaboration with the Medical Research Council
(MRC) is discussed below and the aspect of formal custodianship
of the material is one of the areas still under discussion.
6. The Trust has always worked to ensure
that research which it considers for funding complies with the
best practice and guidelines of the day and that ethical approval
has been obtained from the appropriate body.
7. The Trust has worked with other bodies
to disseminate best practice and contributed to the formulation
of guidelines in this area. This work has culminated in the production
by the MRC of Interim Operational and Ethical Guidelines which
relate to human tissue and biological samples for use in research.[14]
It is now a condition of Trust funding for collections that proposals
include a statement that the applicants have formulated their
proposal in accordance with the draft MRC guidelines. Where large
projects have been proposed, Trust staff and external experts
in the field have conducted on-site visits as part of the review
process which will have included aspects of the ownership, consent
and bioethical issues in line with the guidelines referred to
above.
8. In addition, Trust staff are UK delegates
of the Organisation for Economic Co-operation and Development
(OECD) Task Force on Biological Resource Centres.[15]
9. The Trust has a range of activities organised
under the Medicine in Society Programme which includes the communication
of science with the public and an active Biomedical Ethics Section
which conducts research in its own right[16]
and is responsible for:
— supporting research into the social,
ethical and other consequences of developments in medicine and
biology;
— building and enhancing national capacity,
by providing training and other fellowships to attract academics
into this area;
— ensuring that the research is relevant,
and communicated effectively, to those making public policy.
10. Funding priorities in bioethics reflect
the scientific interests of the Wellcome Trust, giving higher
priority to investigations of the consequences of developments
in neuroscience and human genetics, rather than clinical or professional
practice.
What current projects involve collecting genetic
information on people in the UK? What other projects are about
to start? Are there collections of material (eg tissue samples)
that could be used to generate databases of DNA profiles?
11. Since 1995, the Wellcome Trust was considering
how access to family collections should be widely available for
research studies. To help inform its own ethics policy and practice
in relation to family collections, the Wellcome Trust carried
out an investigation of the consent and ownership issues surrounding
Trust-funded collections of human material for DNA analysis. A
pilot study of 30 Trust-funded researchers was completed and an
internal report was produced setting out the current legal and
ethical issues relating to collections of human material at that
time.[17]
12. Following this, the Trust commissioned
a wider survey of researchers (Collections Census Survey—attached
as Appendix 1) [not printed] throughout UK universities
and the final survey included a number of researchers some of
whom were non-Trust funded. A total of 1,218 researchers were
contacted with a comprehensive questionnaire which asked many
of the questions pertinent to this Inquiry. The results of this
survey are shown in the final report which summarises:
— The number of collections held
by each individual researcher.
— Storage forms.
— Collections size.
— Origin of samples.
— Ownership.
— Consent for further use.
— Dates of collection of the material.
13. At that time, 843 researchers responded
to the questionnaire and follow-up telephone inquiries which showed:
— 400 respondents who were using their
own collections.
— 651 collections in total were covered by this survey.
— 139 researchers were using material from a collection
held by other parties.
— 384 respondents stated that their research involved
the use of biological material taken from human subjects from
which DNA could be extracted.
— 225 were using the material of the collection for
genetics research.
14. The intention was to publish the findings
of this survey in a database format on the internet but the practical
issues of obtaining the appropriate consent and permission from
each researcher has meant that this intention has yet to be realised.
This exercise highlighted the complexities of obtaining a comprehensive
list of such information.
15. Our current records show that since
1991 the Trust has provided over £35 million, mainly in the
form of fellowship, project and programme grants to over 200 different
studies which have involved human subjects, a study of genetics
and the use of a database (Table 1, Appendix 2). A list of project
titles, grant holder and location is provided in Appendix 3 [not
printed] and shows a range of different types of support both
in the UK and internationally. This information will have already
been published as part of the appropriate annual Wellcome Trust
publication—Grants Awarded.
16. For the purposes of this Inquiry, human
genetic databases are defined as collections of genetic sequence
information, or of human tissue from which such information might
be derived, that are or could be linked to named individuals.
The definition does not include medical histories which relate
or may relate to genetically-determined syndromes.
17. In accordance with this definition, the
nature and purpose of each of the databases referred to above
(paragraph 15) which are in receipt of Trust funds is not recorded
on the Trust database and this information will require a manual
search of the original documents which we are currently conducting.
However, for information, examples of the type of research supported
by the Trust are outlined below.
18. The Avon Longitudinal Study of Parents and
Children (ALSPAC). This commenced in 1990 under the scientific
leadership of Professor Jean Golding of the Unit of Paediatric
and Perinatal Epidemiology, University of Bristol, and Professor
Marcus Pembrey, Institute of Child Health, University College
London. ALSPAC is designed to investigate how environmental exposures
and the genotype combine and interact to influence the health,
well being and development of the child.
19. The project includes a study of a cohort
of 14,000 children born in 1991-92 and consists of biological
samples as well as medical, social and environmental data. Recent
advances in the work will mean an increasing number of genetic
studies will be undertaken with collaborators under the guidance
of the ALSPAC ethical committee.
20. Another example of Trust-funded research
is the investigation of Fragile-X syndrome by Professor Pat Jacobs,
Wessex Regional Cytogenetics Unit/University of Southampton. This
is a genetic disorder that has multiple gene marker associations
and the project is conducting a limited population study on the
frequency of these genetic markers in both boys and their mothers.
What other projects are about to start? Why are
these genetic databases being assembled?
21. The ability to identify and locate the genes
involved in the development of disease together with information
of the linked environmental factors will improve our ability not
only to predict disease, but also to provide advice on lifestyle
changes that would be of benefit to particular patients. In addition,
a much more refined approach will be possible in interventions
and drug therapy—the advent of pharmacogenomics will permit
getting the "right medicine to the right patient" rather
than the present generic approach.
Wellcome Trust Functional Genomics Development
Initiative[18]
22. Recent years have seen significant progress
in genome sequencing. To help ensure that the best possible use
is made of the large quantities of genome sequence information
being generated, the Trust launched a new funding initiative in
functional genomics in 1999. The Initiative aims to foster a cross-disciplinary,
co-ordinated approach to the exploitation of sequence data for
medical benefit and includes work in structural genomics.
23. One aspect of this initiative will be the
funding of large scale collections of biological material. A first
call for proposals was made in December 1999 and the first awards
are anticipated in October 2000. A call along similar lines was
launched in June 2000. Further elements of the Initiative are
under development.
Proposed UK Population Biomedical Collection[19]
24. As a major strand of the Trust's strategy
in taking forward the genetics agenda, it is considering the scientific
merits and wider ethical issues of establishing a UK Population
Biomedical Collection. The first discussions of this proposal
emerged as a result of a workshop held in May 1999, which brought
together other funders and scientists involved in existing epidemiological
surveys that have been established, in many cases, decades ago.
The focus of the workshop was on multi-factorial diseases of significant
public health importance. The experts were asked to consider,
in the light of collections already available in the UK, whether
it would be valuable to set up one or more large new collections
in the UK, and if so, what form it/they should take.
25. Discussion focused on the need to link DNA
sequence information emerging from the Human Genome Mapping Project
to patient outcomes (through NHS research) and additional environmental
information. There was general agreement at the meeting that existing
cohorts which had been established for other purposes would not
be suitable for a number of reasons. First using existing cohorts
would not be possible as the consent given at the time of their
establishment would not be appropriate for a new study of this
nature.
26. Second, technical limitations such as the
size of each existing cohort study were considered to be insufficient
to provide the necessary number of incidents of disease to be
statistically valid and capable of being linked to environmental
factors.
27. An outcome of the workshop was the establishment
of a Working Party (Appendix 4) [not printed] by the Wellcome
Trust and MRC in May 1999 which produced a report and recommendations
in March 2000. This report proposed the establishment of a cohort—500,000
adults aged 45-64—for the study of interaction between genetic
and environmental risk factors for common multi-factorial diseases.
The predicted number of outcomes within the proposed 500,000 adult
(45-64 years) population cohort is shown in Table 2, Appendix
5.
28. This proposal was approved by the Council
of the MRC and has been agreed in principle by the Scientific
Committee (Governors) of the Wellcome Trust in May 2000 subject
to further development of the scientific case and further consideration
of the ethical, legal and management issues involved.
29. At this stage, a decision to develop a childhood
cohort of up to 50,000 individuals also recommended in the Wellcome
Trust/MRC Working Party report has been deferred.
How will these activities be funded?
Wellcome Trust Functional Genomics Development
Initiative
30. As part of the Wellcome Trust Functional
Genomics Development Initiative the Trust will provide support
for the collection and maintenance of resource material and associated
data relevant to biomedical research which can include human subjects.
Priority will be given to collections that are needed for studies
associated with genome projects. It is anticipated that these
resources will complement existing activities in an applicant's
laboratory. Awards will initially be for a maximum of five years,
and renewal of funding will be reviewed in year four. A condition
of any award would be that the resource should be made available
to other users. This scheme has a ring-fenced budget of up to
£3 million per annum over three years.
Proposed UK Population Biomedical Collection
31. As discussed above, the MRC and the Wellcome
Trust are developing the proposal for a UK Population Biomedical
Collection and discussing the participation of other funding agencies
eg NHS in England and Wales and the Scottish Health Executive.
In addition, it is our intention to involve specific disease charities,
for example cancer charities, in the development of the project
and this may result in the provision of additional financial support.
32. One structural model for the collection
the Wellcome Trust and MRC have discussed is to establish a non-profit
charitable company limited by guarantee to manage the day-to-day
operations of the activity. This will be against the background
of a business plan to ensure the long-term sustainability of the
resource.
33. It is accepted by the Trust that commercial
organisations will need to be involved at some stage to develop
research findings into health products, but it has not yet been
decided at which stage this should be and what financial arrangements
would be appropriate.
What practical considerations will constrain developments?
Public understanding, acceptance and support
34. The recruitment of a cohort of 500,000 individuals
(nearly 5 per cent of the eligible population in the 45-64 age
range) on an entirely voluntary basis will be dependent upon the
acceptability of the goals and aims of the project to the public.
Although this is a considerable challenge there is a long history
of an altruistic approach to the donation of materials for medical
purposes and research in the UK.
35. The Wellcome Trust and MRC firmly believe
that there needs to be both consultation and continuing dialogue
with the public on the establishment and operation of the cohort.
Towards this end, an initial study has been completed by the Cragg
Ross Dawson Company Public Perceptions of the Collection of
Human Biological Samples and the major findings of this qualitative
research will be released on the respective websites and the summary
report is attached (Appendix 6) [not printed].
36. Overall, the findings of the survey reflect
positively on the planned UK Collection. Its purpose, to increase
understanding of and provide information to combat diseases, was
considered admirable, particularly by those with experience of
illness. While the full range of potential implications was not
immediately apparent to most respondents, once these had been
raised, discussed and addressed through factual information, positive
views of the collection tended to be restored. The majority also
considered that, provided essential conditions such as informed
consent and anonymity were integral features of the project, they
would be prepared to donate samples to the collection.
37. The consultation has highlighted a number
of issues which it is considered will need to be at the heart
of the project in order to achieve and maintain public acceptance
and support. These include:
Respect: Participants should feel that they are
contributing to the development of the project rather than merely
being the passive subjects of a study.
Consent: Full and informed consent will need
to be obtained from the individuals recruited so they feel confident
to be able to opt-in to the project from the onset.
Feedback: Accessible, appropriate information
on the progress of research should be available to participants.
Accountability: A regulatory body will be established
with key representatives on its board, including a study participant.
Consultation: Continuous consultation with all
audiences, from patients to healthcare professionals, to ensure
there is understanding and support of the project.
Ethical research: Guidelines, established by
the regulatory body, will put ethical issues at the forefront
of the project. In addition to setting their own standards, the
Wellcome Trust and the Medical Research Council also welcome the
ethical guidelines which the Human Genetics Commission intends
to formulate on the collecting of genetic material and linkage
to patient information.
Public Ownership: The DNA samples will be held
in public ownership for public benefit. There will not be exclusive
access to information by any one organisation or commercial company.
38. The Wellcome Trust and the MRC are continuing
to develop the proposal and will ensure that full consultation
is integral to its development. Other practical issues are discussed
below.
Obtaining informed consent
39. Recruitment of volunteers and the taking
of biological samples for the study will be on the basis of informed
consent. Widespread publicity for the project, both at the national
and regional level, will make potential participants more aware.
Furthermore, attendance at a clinic to provide environmental information
via questionnaires and the taking of biological samples will need
sufficient time for explanations to be given by specialist trained
staff to ensure that consent is valid.
The role of general practitioners
40. Recruitment of volunteers for this cohort
will, most likely, occur through GP practices that are already
involved in research. The majority of the work in obtaining these
samples and environmental information would be undertaken by specifically
recruited research nurses.
NHS/GP Records
41. One significant concern about the viability
of the study is that its value may be constrained by the quality
of medical records at all levels within the NHS. By involving
GPs, health practitioners and relevant parties within the Department
of Health at an early stage in the project, it is hoped that these
difficulties can be identified and mechanisms found to resolve
them. This will be a key part of the development of protocols
for the conduct of the study.
Ownership
42. With regard to the ownership of biomedical
samples the law is unclear and contested. The MRC guidelines recommend
that ownership for large collections is held at the institutional
level and the Wellcome Trust endorses this view. However, for
the proposed UK Population Biomedical Collection ownership will
need to be carefully considered and need not necessarily reside
with an academic institution. As stated above, the intention would
be for the DNA samples to be held in public ownership for public
benefit and there will not be exclusive access to information
by any one organisation or commercial company.
Convention on Human Rights and Data Protection
Act
43. It is not clear what impact the Convention
on Human Rights and Data Protection Act will have on data storage,
patient access to information and scope of new, additional rights
of individuals who are participating in population studies. Legal
advice and clarification is being sought on these issues. In the
meantime the Trust is aware that the MRC is due to publish guidelines,
October 2000, for its researchers advising on Personal Information
in Medical Research and it is likely that the Trust will endorse
them.
Are there alternative ways of fulfilling the objectives?
Use of existing cohorts
44. With regard to the proposed new study,
as discussed above, the Wellcome Trust/MRC workshop held in May
1999 looked at the possibility of using existing cohorts and this
route was not considered to be feasible as outlined in paragraphs
25-30. However, linkages to existing cohort studies will be made
where appropriate as this is considered to be of great value in
order to enhance its medical significance. This will be subject
to the consideration of the consent which was obtained at the
time of the establishment of the existing cohort as to whether
it allows for new studies of this kind.
45. For identified diseases a number of
collections and smaller cohorts already exist and new major studies
will continue to be established, some as part of the Wellcome
Trust Functional Genomics Development Initiative. These studies
generally look at a much smaller sample of patients in greater
depth than in the proposed large cohort study and will continue
to be of value. As mentioned above where appropriate they will
be able to be linked to the UK Population Biomedical Collection.
What is the genetic information that is being
collected? How is it being stored and protected?
46. An overview of the Collections Consensus
conducted by the Trust in 1998 is attached as Appendix 1 [not
printed]. Research currently in receipt of Trust funds, and
listed in Appendix 2, requires a manual search of the files in
order to answer this question in detail and this work is currently
being undertaken.
Proposed UK Population Biomedical Collection
47. For this study, it is intended that
the biological material to be collected—in the main, blood
samples or mouth swabs—will be used to prepare a bank of
DNA. Any genetic information derived from this source via genotyping
(looking at single nucleotide polymorphisms or SNPs) will almost
certainly be held centrally in an anonymised form on a controlled
database with no remote access. Protection will be afforded via
appropriate control mechanisms, which are still being discussed
as part of the planning process.
How do the organisations involved see their responsibilities
regarding privacy; consent; future use; public accountability
and intellectual property rights?
Privacy, consent, future use and public accountability
48. All projects funded by the Wellcome
Trust in the past were subject to local Research Ethics Committee
approval and as such consent and privacy issues were part of this
process. In 1998 the Trust developed specific "Guidelines
for issues to be addressed when considering support for Collections
of Human Samples" (Appendix 7). As mentioned previously,
the Trust has worked with others to disseminate best practice
and formulate guidelines in this area. This work has culminated
in the production by the MRC of Interim Operational and Ethical
Guidelines which relate to Human tissue and biological
samples for use in research.
49. It is a condition of Trust funding,
for collections involving human material, that all proposals include
a statement that the applicants have developed their proposal
in accordance with the draft MRC guidelines. Where large projects
have been proposed Trust staff and external experts in the field
have conducted on-site visits as part of the review process, which
will have included aspects of the ownership, consent and bioethical
issues in line with the guidelines referred to above.
Intellectual Property Rights
50. One of the conditions associated with
Trust grants is the appropriate control of intellectual property
rights. The Trust established Catalyst Biomedica Ltd[20]
(a technology transfer company wholly owned by the Wellcome Trust)
for advice on these issues and Materials Transfer Agreements are
available to all grant holders on the Wellcome Trust website.
The Trust has recently developed its policy on intellectual property
rights prior to its release on the Internet. In developing this
policy, the Trust has considered a wide range of issues, in particular
the role of intellectual property rights in creating the best
conditions for research and in translating that research into
tangible healthcare benefits. The Trust supports the appropriate
protection and use of intellectual property where this will maximise
healthcare benefits and enable biomedical research to flourish.
51. The Trust believes that the basic DNA
sequence of humans and other organisms should be placed in the
public domain as soon as is practical, without any fees, patents,
licences or limitations on use, giving free and equal access to
all. Subject to this, the Trust is supportive of patents encompassing
genes and their products when there is research data or information
indicating that a particular DNA sequence has a utility such that
the legal criteria for patenting can be met.
52. The Trust is of the view that it will
be essential to involve commercial organisations at some stage
in the development of any healthcare products to arise out of
cohort studies. It might also be appropriate to have commercial
involvement at an earlier stage. The Trust will continue to talk
to all interested parties including other funders pharmaceutical
companies and will engage in continued dialogue with the wider
public to ensure that the degree of involvement is appropriate,
understood and acceptable to all concerned.
Trust responsibility with respect to social, ethical
and public policy research
53. As well as developing guidelines and
policy, the Wellcome Trust also funds a programme of research
into the social, ethical, and public policy implications of advances
in genetics and in neuroscience. This relatively new area for
the Trust is in response to the growing recognition, over recent
years, that advances in biomedical science raise questions of
ethics and of social impact which require careful examination
and, in some cases, suitable regulatory supervision. The Trust
issued a call for proposals, in August 1999, to academic researchers
in the UK offering support for research into the social, ethical,
legal and public policy implications of biological sample collections
in human genetics research[21].
As part of this activity the Trust has also:
— funded a workshop for potential applicants
in November 1999, attended by nearly 40 academics. An additional
benefit of this workshop was the highlighting of policy areas
which funders of biological collections may wish to consider;
— commissioned a background paper on
Biological Sample Collections written by Dr Paul Martin, Genetics
and Society Unit, University of Nottingham and Jane Kaye, University
of Oxford [see p 113]. This background paper is available
on the Wellcome Trust website and has been disseminated widely.
It is in essence a "review" of the field and is cited
widely in the research literature;
— prepared a short report on the workshop
(also on the website referenced at footnote 19) and published
a paper in the journal New Genetics and Society. (Spallone,
P and Wilkie, T, "The research agenda in pharmacogenetics
and biological sample collections—a view from the Wellcome
Trust", New Genetics and Society, Vol 19, No 2, 2000);
— covered the topic as part of the
Trust's summer school for postgraduate researchers, "Genetics
and Society: Research Needs and Research Methods". A group
of students were given the task of creating a research proposal
on this subject.
54. One project grant and four PhD studentships
have been funded in this area. Three project grant proposals are
expected for consideration in the next grants round. The project
grants funded are:
— "Ethical protection in epidemiological
genetic research: participants' perspectives"—University
of Bristol, Dr Richard Ashcroft/Professor Alastair Campbell. This
project will analyse the Avon Longitudinal Study of Parents and
Children. The aim is to improve the understanding of the ethics
of epidemiological research especially with regard to clinical
genetics, longitudinal studies and child participants. The research
will investigate what issues mothers, their partners and children
find ethically important and their understanding of genetics research
(Funded March 2000);
— "A sociological study of Iceland's
DNA database project", Institute for Advanced Studies, University
of Bristol, Professor Hilary Rose, (funded in 1999). Report on
this work is imminent.
55. Studentships funded are:
— "Whose genes? Tracing the use
and control of human genetic info through the law". Oxford
studentship funded June 1999, Jane Kaye;
— "Exploring the meaning and ethics
of tissue donation for genetic research". Nottingham studentship
funded June 2000, Helen Busby;
— "UK and European policy in stem
cell research: proposals for the ethical grounding of future regulation".
Bristol studentship funded June 2000, Benjamin Capps;
— "Legal protection of human biotechnological
inventions". Oxford studentship funded June 2000, S Thambisetty.
56. The Trust's "call" for social
and ethics research proposals on the human sample collections,
and capacity building work (workshop and summer school), has stimulated
the UK research community to work on these issues. This work will
help inform public policy making in due course. It is essential,
though, that the system in place for making public policy decisions
should be flexible enough to revise judgements in the light of
new knowledge (or, indeed, of changes in social values and mores).
How do they see their activities in the area of
genetic databases developing in the future? What advances in sequencing,
screening and database technology are they anticipating?
57. The UK Biomedical Population Collection
is seen as a model experimental approach to the future enhancement
of links between genomic information and patient care, including
the introduction of pharmacogenomic approaches to treatment and
therapy. The ability to develop high throughput genotyping (which
will be necessary because of the current expense of genotyping)
will make this goal ultimately realisable. The outputs from the
UK Biomedical Population Collection will, in some cases, be unpredictable;
however, these will set the parameters for the use of genetic
and environmental information in the context of individual patients
in the future. We anticipate that the Single Nucleotide Polymorphism
(SNPs) approach in genotyping will result in the ability to detect
some of the factors involved in disease development, especially
in multi-factorial diseases, before the development of the disease
and take necessary measures (via drug intervention or lifestyle
changes) to either prevent or lower the risk of disease. Overall,
these should result in substantial benefits to the cost of therapy
as well as quality of life benefits to the patient.
58. The UK Biomedical Population Collection
could be a testing ground for future NHS database developments
and will be dependent on the improved quality of patient records
and the need to provide necessary linkages between GP practice-based
records and hospital records. Partnership with the NHS at the
commencement of the project will make this goal achievable.
What lessons should be learnt from genetic database
initiatives in other countries?
59. The answers below refer mainly to the
proposed UK Biomedical Population Collection.
60. The background paper written by Martin and
Kaye (referred to above) elaborates on the obvious example of
Iceland and the deCode project. It is not clear whether policy
development within a country whose total population is less than
300,000 has much relevance to a country whose population approaches
60 millions. However, one aspect of the Icelandic situation that
may be of interest is that the encoding of the health records
has been placed in the hands of an organisation that is independent
of the Government and of the company itself. The current UK situation
means that encoding of personal medical information tends to be
left to researchers acting in accordance with general guidance,
rather than being the executive responsibility of an independent
agency. This means that information is held in private (academic)
rather than public hands.
Patient recruitment
61. Iceland has automatic opt-in for storage
and use of patient records, although informed consent is required
for biological samples. This has led to some public antagonism
and subsequent international response to the project especially
in terms of links to commercial exploitation (see below).
62. USA (dna.com). This project adopts a
random approach to patient recruitment with a reliance upon questionnaire-based
information (unaudited) and without linkage to patient records.
This seems to provide very limited ultimate value, although patients
are offered the benefit of individual feedback on particular diseases.
However, individual feedback, to be done properly, requires careful
planning that involves counselling and an explanation of the risk
factors particularly for (chronic) diseases which have no treatment.
63. Ensuring that the UK project has an
opt-in voluntary approach will be a particular strength; however,
feedback and communication will be necessary to maintain the patient
volunteers' commitment and contact with the organisation in the
long-term.
Legal mechanisms
64. Most aspects of the Icelandic database
project are enshrined in detailed legislation which has been passed
by the Icelandic parliament. This has provided a strong regulatory
framework for genetic resources in Iceland. In the UK, regulation
has been non-statutory through research ethics committees and
the Human Genetics Commission.
Management of the database
65. The Iceland project involves the use of
an independent body, separate from the commercial interest, which
is responsible for the coding and encryption of personal information
that will link biological samples to the genealogical database
and the patient records database. The UK project will ensure that
this activity is regulated by a separate and independent body
who will also have responsibility to audit this function. This
responsibility is not clear in the Icelandic situation.
Patient records
66. The Iceland project relies upon deCode Genetics
to negotiate access to the patient records with each individual
GP practice/hospital concerned. The UK project will need to work
alongside the Department of Health to ensure full integration
of the patient records in the project throughout the UK and ensure
a uniform approach to the collection of these records.
Public understanding of science
67. The Icelandic population is small, less
than 300,000, and highly educated with literacy levels higher
that most developed nations. Although opinion on the project is
polarised, there has been considerable debate over the benefits
to be gained from the deCode Genetics database, and the public
are well informed on the issues. A general feeling, within the
international community, however, is that more public consultation
would have been desirable.
68. The initial public consultation in the UK
performed for the Wellcome Trust and MRC (Cragg Ross Dawson Report)
reveals that the level of the public's knowledge of genetics is
limited and the benefits of this type of research is not obvious
to many people without careful explanation. One of the key facets
to the success of the UK project will be a concerted approach
to improving awareness and continuing dialogue with the general
public on the issues raised. It is anticipated that this will
continue for the duration of the database project.
Links to industry
69. The Icelandic project has negotiated exclusive
access arrangements for the databases and related information
to deCode Genetics for a period of seven years. Although industry
is expected to gain regulated access to the database in the UK
(discussions are already taking place with the Association of
the British Pharmaceutical Industry) it is anticipated that industry
will not directly participate in the management of the project
and that exclusive access will not be permitted. A management
model is being developed which allows for the establishment of
an independent charitable body to oversee this relationship.
Use of human biological samples in research
70. The introduction of all-embracing legislation
in Iceland has resulted in all uses of human biological samples
(other than those used in diagnosis) being subject to government
regulation via the Ministry of Health. The scientific community
is sufficiently small in Iceland for this not to be a major imposition
on scientific freedom. However, in the UK this would result in
a severe administrative burden on both the research community
and the government. Although self-regulation can be criticised,
it has provided a workable framework for research to date.
Individual patient feedback
71. The Iceland project has been conducted upon
the basis that individual patient feedback will not be permitted,
given the nature of the anonymisation process and encryption.
In the Wellcome Trust/MRC public consultation, this was a key
issue for many members of the general public who would view individual
feedback as a positive benefit from participation in the project.
This issue will need to be part of continued public consultation
before a definitive policy can be introduced and form part of
the project plan.
12 http://www.wellcome.ac.uk Back
13
Collections Census Survey, March 1998. Infratest Burke Ltd (Public
Attitude Surveys Ltd) Back
14
http://www.mrc.ac.uk/templates/images/tissues.html Back
15
Culture Collections Seek Global Help. Science Vol 283,
No 5406 pp 1240-1241. Back
16
The research agenda in pharmacogenetics and biological sample
collections-a view from the Wellcome Trust. Patricia Spallone
and Tom Wilkie. New Genetics and Society, Vol 19, No 2,
2000. Back
17
The Legal and Ethical Issues Relating to Collections of Human
Material or Information used in Genetics Research, for the Wellcome
Trust by Ms GAH Meijer, November 1997. Back
18
http://www.wellcome.ac.uk/en/1/biosfggenbkg.html Back
19
http://www.wellcome.ac.uk/en/1/biovenpop.html Back
20
http://www.catalystbiomedica.org.uk/ Back
21
http://www.wellcome.ac.uk/en/1/mismisethgrafundna.html Back
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