Memorandum by the ESRC Centre for Social
and Economic Research on Innovation in Genomics (Innogen)
The Innogen Centre is part of the ESRC Genomics
Network (EGN), a major investment by the Economic and Social Research
Council (ESRC). The Centre was set up in 2002 and has recently
had its award extended to 2012. Members of staff in the Innogen
Centre who have contributed to this response include: Professor
Joyce Tait, Dr Theo Papaioannou, Dr James Mittra, Dr Gill Haddow,
Dr Alessandro Rosiello. Professor Graeme Laurie and Shawn Harmon,
also members of the Innogen Centre, are contributing to the AHRC
submission to this Inquiry.
In considering the issues below as they apply
to Genomic Medicine, we have adopted a wide interpretation of
the term "genomic" to cover aspects of new life sciences
that incorporate or build on genomics-related knowledge. The Innogen
Centre's research programme covers:
— Science and industry strategies in
promoting fundamental scientific discoveries and exploiting them
for public and commercial benefit.
— Policy, regulation and governance
of life science innovation.
— Public and stakeholder engagement
with life science-related issues.
Our overall approach explores how interactions
among these three constituencies determine which products are
delivered to a public or commercial market, who develops them,
and which of the many potential benefits or risks will actually
materialise.
POLICY FRAMEWORK
Who is in charge of setting and reviewing policy
in this area?
Numerous government and non-government (professional)
actors are involved in setting and reviewing policy. The most
important are:
Government Actors
— Human Genetics Commission (HGC) advised
by Advisory Committee on Genetic Testing (ACGT); Advisory Group
on Scientific Advances in Genetics (AGSAG); and Human Genetics
Advisory Commission (HGAC) which focuses on social and ethical
issues and concerns related to genomics.
— Other important committees include:
Genetics and Insurance Committee (GAIC); Gene Therapy Advisory
Committee (GTAC); and Genetics Commissioning Advisory Group (GenCAG).
These committees co-coordinate policies and advise on issues of
insurance and safety.
— Human Fertilisation and Embryology
Authority (HFEA) licenses new genomics-based technologies.
— House of Commons Science and Technology
Committee examines and makes recommendations to government on
relevant topics
Non-Government Actors
— Joint Medical Genetic Services Committee
(JGSC) advises the UK health departments.
— Nuffield Council on Bioethics, an
independent body that examines ethical issues relevant to genomics.
— British Society of Human Genetics
brings together the Association of Clinical Cytogeneticists, Clinical
Genetics Society and Clinical Molecular Genetics Society.
— Royal College of Physicians (RCPhys)
reports on clinical genetics.
— Genetic Interest Group (GIG) represents
patients and families and aims to raise awareness on genomics-related
matters.
Who provides scientific advice on policy development?
Who monitors and anticipates potential scientific developments
and their relevance to future policy? How effective are these
mechanisms?
The development of new genomics-related solutions
for patient health care engages with a variety of areas of policy
making including: science funding; support for knowledge transfer;
public sector support for translation of fundamental science to
new medical developments; appropriate education at all levels
of scientists, medical professionals, technologists and health
care workers, including increasingly a focus on interdisciplinary
working; policies on stakeholder and public engagement. However,
the question implies a greater degree of coherence and strategic
planning than actually exists in innovation and technology policy,
with significant fragmentation of powers and initiatives at both
functional and regional levels.
Does the existing regulatory and advisory framework
provide for optimal development and translation of new technologies?
Are there any regulatory gaps?
Regulation and policy are constantly required
to evolve in response to rapid scientific and technological change.
Emerging regulations such as the European Advanced Therapies Regulation,
and changes in the way tissues and cells, as well as clinical
trials, are being regulated, show that efforts are being made
to adapt policy to technological change and to facilitate innovation.
But the crucial changes generally need to be made at international
levels and they frequently, with hindsight, turn out not to be
optimal.
A major component of the Innogen Centre research
programme has focused on the interactions between innovation and
regulation in genomics-related sciences.1, 2 We have shown how
regulatory decisions can have a formative influence on the structure
and dynamism of an entire industry sector. This is particularly
true of pharmaceuticals where the lengthy and demanding nature
of the regulatory system has been a major contributor to the overall
shape of the sector, including the so far unchallenged supremacy
of the multinational companies in determining the innovation environment.
The high costs and long delays entailed in taking a new product
through the regulatory system ensure that only large multinational
companies (MNCs) have the resources to operate throughout the
whole innovation cycle. This barrier to entry for small companies
has shaped the structure of the sector, leaving MNCs in their
currently dominant position and insulating them from competitive
challenges from smaller innovative companies with a high growth
potential. Small companies either rely on MNCs to take their products
through to market, or alternatively they need to make themselves
attractive acquisition targets for MNCs. In both cases this means
that they inevitably tailor their innovation strategies to match
those of the MNCs, rather than developing the radically novel
applications of genomic science that were anticipated in the 1980s
and 90s.
Similar degrees of restriction on innovation
pathways are beginning to emerge in new areas of medical innovation.
In the case of stem cell therapies, for example, the evolving
regulatory system is mirroring the structure currently applied
to pharmaceuticals, and the more policy and regulatory barriers
that are erected along the development path, the more likely it
is that only very large multinational companies will be able to
develop the technology. For stem cell-based innovations, multinational
companies will be interested in applications that can contribute
to evaluation of new drug candidates but they are unlikely to
embrace stem cell based therapies as these will not fit with their
current profit models or their production, distribution and marketing
strategies. This will not mean that no therapeutic applications
will arise from stem cell developments but there may be many fewer
of them than would be the case under a different regulatory regime.
Because of their influence on these questions,
regulatory agencies have a particularly important role in shaping
the genomics-related innovation sectors of the future.3 International
agencies are beginning to discuss structural reforms of regulatory
systems to develop smarter, more targeted regulation to match
the potentially more varied innovation landscape of the 21st Century.
It would be in the UK's interests to encourage and support such
initiatives.
One concern related to research governance is
whether the patent regimes as they apply to DNA continue to be
conducive to life science innovation. For example in the patenting
of a DNA sequence that has use in research but no immediate therapeutic
or diagnostic value, the Nuffield Council on Bioethics has noted
that there has been an increase in the number of patents asserting
rights over DNA sequences in this category. Since the 1990's,
researchers have used partial DNA sequence or expressed sequence
tags (ESTs) as an aid to identifying genes. Granting patents over
parts of genes means that these can be privately owned as research
tools, excluding others from research to identify the genes themselves.
One component of the shift to more bottom-up,
"governance" based approaches to regulation and the
provision of advice4 at regional levels, as shown by recent Innogen
research is the importance of public-private collaborations and
partnerships in Cambridge and Scotland for innovation and economic
growth. These collaborations play an important role in building
firm-based and policy-making capabilities and public policy can
help to facilitate their formation and expansion.5
In what way is science and clinical policy decision
making informed by social, ethical and legal considerations?
Social, ethical and legal considerations (advanced
through consultations and advisory committees) reflect, and to
some extent also determine, the balance of power between Publics
(citizens and stakeholders), Policy-Makers (governance, regulation
and the state) and Innovators (science and industry). Considerations
such as human rights, informed consent, ownership, accessibility
and confidentiality, contribute increasingly to the policy agenda
for regulation of genomics/post-genomics research and innovation,
alongside the need to ensure safety, quality and efficacy of new
products and processes.
Thus, although scientific advice provides the
main basis for legitimacy of policy decision making, there is
also an increasingly important role for public consultation and
engagement in informing such decisions. There are unresolved tensions
between these two sources of authority for decision making, with
outstanding questions about the quality of public consultations
and the extent of use of their results. Such questions include:
the appropriate timing, topic and format for a consultation; the
expectations raised among those being consulted; how to deal with
irreconcilable differences of opinion among those being consulted;
and the extent to which the outcomes of a consultation should
be allowed to over-ride scientific advice.
The Innogen Centre is making an important contribution
to elaboration and evaluation of public engagement techniques,
for example in relation to development of genetic databases, stem
cell science and the development of related therapies, and in
identifying, understanding and dealing with conflicting interests
and values in decision making related to genomics and medicine.
We are also working on risk governance of stem cell based therapies
and synthetic biology research. Insights that have emerged so
far from this research include:
— The need for different engagement
approaches to deal with debates and discussion based on potentially
conflicting interests (as in the case of patient groups) and those
based on conflicting values or ideology (as for example with religious
objections to human embryonic stem cell research and applications).
— The need to consider the circumstances
under which it is democratically justified to allow the interests
or values of one societal group to over-ride those of others.
RESEARCH AND
SCIENTIFIC DEVELOPMENT
Who is taking the lead in the consideration and
co-ordination of research and the development of new technologies?
Research is mainly led by the research councils,
at the UK level. Likewise regulatory and some financial matters
are dealt by the UK Government. However, for the development of
new technologies, regional innovation system thinking tends to
dominate over national planning so that innovation and technology
policies are increasingly developed and implemented at a regional
level, based on local endowments. The promotion of entrepreneurial
activities, private-public partnerships, public provision, intellectual
property licensing, scientific training etc, are achieved by a
mix of sometimes overlapping schemes promoted by both regional
and national entities.
How does research in the UK compare internationally?
How much collaboration is there?
The UK research base is one of the most effective
worldwide, based on the number of published and cited papers per
pound invested in fundamental research.
There are numerous international collaborations
for research in genomics and biotechnology. For example, the Biotechnology
and Biological Sciences Research Council (BBSRC) collaborates
with scientists around the world, promoting international links
at both policy and scientific levels to make the most of new scientific
opportunities and to explore ways of sharing knowledge and technology.
Also the International Science and Innovation Network (SIN) of
the Foreign and Commonwealth Office collaborates with a number
of public and private actors, ensuring that the UK retains its
position at the cutting edge of world science.
The Economic and Social Research Council (ESRC)
has supported the largest co-ordinated research investment internationally,
that studies socio-economic aspects of genomics-related development.
It also supports international collaborations, for example with
a similar initiative in the Netherlands, as well as with Canada,
the USA, Africa, India, China and Argentina.
DATA USE
AND INTERPRETATION
Is genomic information published etc in a useful
way? Should there be a common public database? If so, who should
fund and have responsibility?
The reluctance to publish negative results contributes
to a perception of secrecy rather than transparency and openness
and more needs to be done to encourage the sharing of negative
as well as positive results, eg of clinical trials.
In the context of a common public database,
the centralisation of electronic medical records is currently
under way and we should consider what lessons can be learned from
this that are relevant to public trust and understanding. Funding
should come from a centralised impartial source and control should
be by a national independent organisation, given recent breaches
of security of government held data and the possible effect on
public perception of the security of a government controlled public
DNA database. A body akin to the National Blood Transfusion Service
has been proposed as a trustworthy institution to take on this
role.
Considering the international implications of
sharing of data and samples, there is a lack of harmonisation
in the way collections are procured, held and used, but the governance
mechanisms for sharing information from large-scale collections
have not yet been developed. Organisations such as Public Population
Project in Genomics (P3G) are attempting to find solutions for
this problem.
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?
In the context of insurance, procedures are
already in place to prevent individuals who participate in clinical
research from being discriminated against by insurance companies,
as part of the voluntary moratorium agreed by the companies. Insurers
have stated that applicants do not have to divulge genetic information
derived from a clinical study so that denial of coverage or loading
of the premium are not yet valid concerns. However the moratorium
will end in 2011 and this protection may not continue. Genomic
information does have implications for data security and privacy
and these need to be addressed by policymakers and regulators
to ensure sufficient public safeguards without inhibiting scientific
advance.
TRANSLATION
Who is responsible for translation to clinical
practice?
For many areas of genomic medicine, industry
is crucial to the successful translation of new therapies and
discoveries to clinical practice, and cross sectoral collaboration
is increasingly taking place, between universities/public sector
research organisations, commercial companies and health services.
In the past the perception has been that commercial organisations
received the majority of the benefit from public sector alliances,
but this is beginning to change. New large scale collaborations
are being developed where the public sector is a key investor,
such as the Scottish Translational Medicine Research Collaboration
(TMRC) and here the challenge is to ensure that benefits accrue
to all partners. Because translational medicine, by definition,
involves many areas of science, and a range of institutions and
commercial organisations, a variety of different policy and investment
initiatives is needed to extract maximum value.
Regulators and policymakers also have a key
role to ensure that translation to clinical practice is supported,
where necessary, by enabling and well-conceived regulation, for
example making it easier to set up a clinical trial (single rather
than multiple site licenses, as is being developed in Scotland)
would facilitate translation.
Given the pace of technological advance, how "future-proof"
is healthcare investment in this area?
No investment is future proof, especially in
such a complex area as genomics, where regulation, investment
and success can be capricious. They key is to balance or share
the risk, partly through the involvement of the commercial sector.
Furthermore, investment, policy and regulation must be adaptive
to changes in scientific knowledge, technological advance and
unforeseen changes in the socio-political environment. Investment
in broad based initiatives and fostering adaptive institutional
change are likely to be more "future-proof" than investment
in a single technology or therapy area.
The increasing use of Foresight techniques in
policy and government circles arises in part from an attempt to
"future-proof" public investments in genomic technologies.
However, long experience should have made our human limitations
in such areas abundantly clear.6 Predictions about the speed of
development of an innovation are generally wrong: some take much
longer than predicted, some happen surprisingly fast, and others
never materialise. However, in a medical context regulatory requirements
will usually mean a 10-15 year development time scale and this
adds greatly to uncertainty about the economic environment and
future public and stakeholder attitudes and needs. Thus, attempting
to predict future public desires and needs, alongside attempting
to predict health technology outcomes multiplies the scale of
uncertainty.
Predictions based on a sound understanding of
the interactions between science/innovation, regulation/governance
and public needs and desires, are likely to be less uncertain
than those based on any one of those areas in isolation. However,
a more robust long term strategy is likely to be one that ensures
an open science and innovation environment and avoids fore-closing
on any one area of innovation based on simplistic interpretations
of what is likely in future to be possible technologically or
desirable from the public point of view.
BIOMARKERS AND
EPIDEMIOLOGY
What impact will genomic data have on data emerging
from projects such as UK Biobank, GS and other biobanks?
This question is complex and multi-faceted.
Results from research based DNA databases are not yet in a position
to give individual, or even group-based, feedback about genetic
propensity to inherit a disease.
There is an increasing need for regulation to
ensure that public confidence in these databases is safeguarded,
rather than relying on volunteers' acceptance of consent conditions.
Current DNA database policy is based on open consent whereby any
use of the contribution cannot be precisely stated but will be
medically and ethically approved. However, the ethical safeguard
providing the option for withdrawal of a sample can only apply
while the donor of the sample is alive. Greater clarity is needed
to safeguard both the scientific potential of the database and
the requirements of individual donors.
There is some concern in medical and scientific
circles that commercial involvement in developing DNA databases
and in using the insights they provide to develop products will
lead to public opposition to the databases themselves. However,
our research has shown that accommodation can be achieved by mobilisation
of a grass-roots solution known as "benefit-sharing"
or "profit pay-off", backed up by a pragmatic legal
framework which responds seriously to public concerns.7
REFERENCES
1 Tait, J (2006). "Multinational Company Innovation
Strategies" Innogen Policy Brief: Appropriate Governance
of the Life Sciences—1, http://www.genomicsnetwork.ac.uk/innogen/publications/policypapers/
2 Tait, J, Chataway, J and Wield, D (2006). "The
Case for Smart Regulation" Innogen Policy Brief: Appropriate
Governance of the Life Sciences—2 http://www.genomicsnetwork.ac.uk/innogen/publications/policypapers/
3 J Tait (with D Wield, J Chataway and A Bruce) (2007).
Health Biotechnology to 2030. Report to OECD International
Futures Project, "The Bio-Economy to 2030: Designing a Policy
Agenda", OECD, Paris, pp 51.
4 Lyall, C and Tait, J (2005). New Modes of Governance:
Developing an Integrated Policy Approach to Science, Technology,
Risk and the Environment. Aldershot, Hampshire: Ashgate Publishing
Ltd.
5 Papaioannou, T (2007), Innogen Policy Brief No.12;
www.innogen.ac.uk
6 Williams, R (2006). Compressed Foresight and Narrative
Bias: Pitfalls in Assessing High Technology Futures. Science
as Culture, 15(4), 327-348.
7 Haddow, G, Laurie, G, Cunningham-Burley, S, &
Hunter, K (2007). Tackling Community Concerns about Commercialisation
and Genetic Research: A Modest Interdisciplinary Proposal. Social
Science and Medicine, 64, 272-282.
18 April 2008
| 
