Memorandum from the Arts and Humanities
1. The Arts and Humanities Research Council
(AHRC) welcomes this opportunity to respond to the committee's
inquiry. This response does not include or necessarily reflect
the views of the Science and Innovation Group in the Department
for Innovation, Universities and Skills.
2. The AHRC supports research within a huge
subject domain from traditional humanities subjects, such as history,
modern languages and English literature, to the creative and performing
arts. The AHRC funds research and postgraduate study within the
UK's higher education institutions. In addition, on behalf of
the Higher Education Funding Council for England, it provides
funding for museums, galleries and collections that are based
in, or attached to, higher education institutions in England.
3. This information in this response comes
(except the Research and Scientific Development section, as indicated
below) from Professor Graeme Laurie, Director of the AHRC Research
Centre for Studies in Intellectual Property and Technology Law
at the University of Edinburgh and Mr Shawn Harmon, Research Associate
with the AHRC Centre and with Innogen (sponsored by the ESRC)
also at the University of Edinburgh. The response focuses on issues
from the legal, ethical and/or regulatory perspectives, being
the focus of the work of the AHRC Law Centre. Further details
can be seen at http://www.law.ed.ac.uk/ahrc
and also http://www.innogen.ac.uk.
Does the existing regulatory and advisory framework
provide for optimal development and translation of new technologies?
Are there any regulatory gaps?
4. We contend that the existing regulatory
framework does not optimise the development and translation of
new technologies. There are three hurdles of particular significance.
5. Regulatory Joined-up-ness: There exists
"innovation drag" as a result of regulatory complexities
(eg: regulatory overlap and co-regulation by a variety of bodies,
from the Human Fertilisation and Embryology Authority (HFEA) and
Human Tissue Authority (HTA), to UK Stem Cell Bank (UKSCB), to
the General Medical Council, the patents regime and more. The
inefficiencies created by multiple overlapping recommendations,
directions, guidances, and laws from bodies/agencies (who do not
necessarily coordinate or even communicate) with an interest in
different but overlapping stages of innovation, complicates and
elongates the journey from idea to socially-useful output. It
also makes it difficult for public actors to steer innovation
in socially-useful directions. In short, there needs to be regulatory
"joined-upness" so as to promote timely and valuable
innovation. The Committee has the opportunity to map these regulatory
pathways and to recommend how more effective and efficient trajectories
might be developed.
6. The role of ethics committees: A particular
"pressure point" in this arenathat is, activities
directed at the translation of research into products/processes
directed at humanswhich deserves closer attention is the
remit and transparency of local or multi-centre ethics committees;
more particularly, how to articulate the scope of the former and
ensure the latter.
7. Access to research data: There are barriers
to researcher/innovator access to data and much work has been
done with a view to examining the knowledge enclosure tendencies
of existing intellectual property regimes. The Committee is, however,
in a position to examine the UK intellectual property regime and
its interactions with European and international institutions,
and more particularly the application of these regimes to genomic
medicine. One fruitful avenue to monitor in depth is the initiative
from the UK Stem Cell Bank to rely more on Open Science. It is
far from clear that this will serve the range of stakeholder interests.
In what way is science and clinical policy decision-making
informed by social, ethical and legal considerations?
8. We would suggest that there are five
core challenges facing the optimal governance of genomic medicine
and which involve the above considerations.
9. Consent: The imperative to obtain informed
consent has become the dominant paradigm in biomedical governance
but we would point out that its origins lie in medical research
focussed on the human body and that its application to research
involving medical or genomic data should be explored in more depth.
Such an imperative may stand in the way of valuable medical research
and act as a hurdle to striking an optimal balance of interests.
Consent is not a social value in itself, but merely a means to
respect individuals and their interests; as we indicate below,
it is neither necessary nor sufficient to protect the core individual
interests involved in research involving medical/genomic data,
viz privacy interests. We would urge the Committee to explore
the debate about the value and limits of consent and to ask whether
we "fetishise" consent as a regulatory tool at the expense
of other options.
10. Confidentiality: As a recent report
from the Academy of Medical Sciences indicates,
the current regulatory regime that operates within the United
Kingdom with respect to protection of privacy does not take advantage
of flexibilities within the law which provide for the adequate
protection of privacy while also promoting medical research when
informed consent is neither practicable nor possible. We would
also refer the Committee to the recent report from the Article
29 Working Party on Data Protection which discusses e-health records
and the possibility of regulation regimes that promote a public
We would urge the Committee to consider, in particular, the role
and approach of the Patient Information Advisory Group which takes
a very consent-based stance to its work. This can be contrasted
with the Privacy Advisory Committee for Scotland, of which Professor
Graeme Laurie is Chair, and which seeks a balance of public and
11. Confidence: Public trust and confidence
is crucial to effective governance regimes and we would suggest
that particular close attention should be paid to questions of
access to genomic data. Good governance regimes should be transparent,
robust, reasonable, involve clear due process for all parties,
and be subject to effective oversight. We would point to the example
of the UK Biobank Ethics and Governance Council, chaired by Professor
Graeme Laurie, which is developing considerable experience in
this realm; crucial to the success of the Council is a close working
relationship with UK Biobank itself.
12. Commercialisation: Our research, and
that of others, has revealed some evidence of public unease about
the role of commercialisation of genetic/genomic research.
While we accept commercialisation as a reality, we would nonetheless
suggest that the Committee consider carefully whether and how
such public attitudes might be taken into account.
13. Collaboration: International collaboration
is essential if we are to realise the full promise of genomic
medicine. The same is true in terms of governance, and in many
ways the United Kingdom is leading the international field; once
again, we offer the example of the UK Biobank Ethics and Governance
Council. On international collaboration, we would also point to
the example of the Public Population Project in Genomics (P3G)
which is seeking harmonisation of efforts, both scientific and
regulatory, among biobanks across the globe.
What is the state of the science? What new developments
are there? What is the rate of change?
14. The AHRC has funded "Philosophical
Issues in Genomics"; a research grant award made to Professor
John Dupré and Dr Maureen O'Malley at the ESRC Centre for
Genomics in Society (Egenis); the information in this section
comes from them. The award of £93,838 ran from 1 March 2006
to 29 February 2008 and addressed two topics that have enormous
potential for relevance to future medical practice; systems biology
and microbiology. Systems biology is an attempt to apply sophisticated
computational methods to modelling complex biological systems.
It is widely seen as a successor science to genomics, and is in
part a response to the growing realisation that the once widespread
assumption that causation ran in a linear fashion from DNA through
RNA to proteins is entirely mistaken. Systems biology explores
the networks of typically cyclical and feedbacked causal interactions
that constitute the functioning of biological systems. Although
research in this area has yet to reach the point where it is directly
applicable to interventions in human biological systems, this
is likely to change. One area that is widely anticipated is the
use, in part, of in silico models deriving from systems biology
for the testing and discovery of new drugs.
15. Metagenomics can be seen as a subarea
of systems biology. The systems it explores are microbial communities,
reflecting the understanding that microbes generally function
not as isolated individuals but rather as complex communities
of cooperating microbes with very complex division of labour.
This field has almost unlimited potential impact on medicine.
About 90 per cent of the cells that constitute the functioning
human body are in fact microbial symbionts, and about 99 per cent
of the genes in a human body reside in these microbes. The human
microbiome project is now beginning the project of cataloguing
these genes. Microbial symbionts are now understood to be essential
for human functioning, in areas including most notably digestion,
immune response, and development. There is growing evidence that
gene expression is mutually modulated by human and symbiotic microbial
cells. These developments present nothing less than a reconceptualisation
of what a human body is, and can therefore potentially revolutionise
our understanding of the system that medicine aims to influence.
16. Work in Egenis to date has been concerned
primarily with mapping these developments and communicating to
scholars in a range of disciplines (including philosophers of
biology) the importance of the insufficient attention that has
been paid to microbes. Further research is planned by the award
holders to expand this work in the direction of its relevance
to medical practice.
What are the implications of the generation and
storage of genome data on personal data security and privacy,
and on its potential use or abuse in employment and insurance?
How should these be addressed?
17. The Committee should have reference
to the quality work that has already been undertaken in the area
of data storage, data security and data use in the genomic context.
Generally, the issues of concern in the employment and insurance
contextwhich turn on genetic determinism, consent, discrimination,
and data securityhave not changed.
How meaningful are genetic tests which use genome
variation data? What progress has been made in the regulation
of such tests?
18. Again, there has been extensive consideration
of the ethical, legal, social and practical aspects of this issue.
19. In addition to Genes Direct (2003),
the Human Genetics Commission (HGC) has recently issued a new
report entitled More Genes Direct (2007),
which identifies key issues in the genetic testing area as (1)
pre-market review of tests, (2) quality assurance of testing services,
(3) advertising and promotion controls, and (4) access to independent,
impartial advice on the part of consumers. The HGC rightly identify
a need for stricter controls in this field combined with improved
NHS genetics services, and recommends that certain tests should
only be offered through qualified health professionals. We endorse
20. There are also on-going concerns about
international access to, and internet marketing of, genetic tests.
In 2007, the OECD adopted Guidelines aimed at quality assurance,
analytic accuracy of tests, and information provision,
and EuroGentest is examining the possibility of requiring labs,
clinical services and professionals to be (ISO) accredited.
Generally, it is recognised that there needs to be accelerated
cooperation around international standardisation of definitions,
harmonisation of quality assurance standards, and controls on
advertising and administering tests. Use of the internet makes
harmonisation and regulatory cooperation all the more critical.
21. The above supports the claim that there
is still much to do in the regulation of this field and in managing/rationalising
the provision of genetic testing services.
How useful will genomic information be as part
of individualised medical advice? What provisions are there for
ensuring that the individual will be able to understand and manage
genomic information, uncertainty and risk?
Should there be a regulatory code (mandatory or
voluntary) covering the provision of this advice?
22. There is already a plethora of advice
and guidance in existence about the handling of medical/genetic
data. We would caution against yet another iteration unless this
comes from a sufficiently high-level, authoritative body and is
accompanied by a clear explanation of how this new guidance should
be read with existing provisions.
22 April 2008
26 Academy of Medical Sciences on Personal Data for
Public Good: Using Health Information in Medical Research (2006),
report available here: http://www.acmedsci.ac.uk/p99puid62.html Back
Article 29 Data Protection Working Party, "Working Document
on the processing of personal data relating to health in electronic
health records (EHR)" 15 February 2007. Back
Privacy Advisory Committee for Scotland, more information here:
Haddow, G, Laurie, G, Cunningham-Burley, S, & K Hunter, "Tackling
Community Concerns About Commercialisation and Genetic Research:
A Modest Interdisciplinary Proposal" (2007) Social Science
and Medicine, 64: 272-282. Back
Population Project in Genomics: http://www.p3gconsortium.org/ Back
See Nuffield Council, Genetic Screening: Ethical Issues (London:
NCB, 1993), chs. 6 and 7 Human Genetics Commission, Whose Hands
On Your Genes? A Discussion Document on the Storage, Protection
and Use of Personal Genetic Information (London: HGC, 2001), Human
Genetics Commission, Inside Information: Balancing Interests in
the Use of Personal Genetic Data (London: HGC, 2002). Back
See ECG, Ethical, Legal and Social Aspects of Genetic Testing:
Research, Development and Clinical Applications (Brussels: EU,
2004), and the ongoing work of EuroGentest (http://www.eurogentest.org/),
an EU-funded Network of Excellence with a remit of encouraging
harmonisation of standards and practices throughout the EU and
HGC, Genes Direct: Ensuring the Effective Oversight of Genetic
Tests Supplied Directly to the Public (London: HGC, 2003). Back
HGC, More Genes Direct: A Report on Developments in the Availability,
Marketing and Regulation of Genetic Tests Supplied Directly to
the Public (London: HGC, 2007). Back
OECD, Guidelines for Quality Assurance in Molecular Genetic Testing
(Paris: OECD, 2007). Back
See EuroGentest, Recommendations for Genetic Counselling Related
to genetic Testing (Draft 2), 2007. Back