CHAPTER 8: LIST OF RECOMMENDATIONS
AND CONCLUSIONS
Translating human genomic research into clinical
practice (Chapter 3)
THE FRAMEWORK FOR TRANSLATIONAL RESEARCH IN THE UK
8.1. Since its creation, the Office for the Strategic
Co-ordination of Health Research (OSCHR) has been responsible
for the co-ordination of public sector health research in the
UK, estimated to be worth £1.7 billion a year by 2010-11.
We commend the strategic and co-ordinated approach of OSCHR to
translational research and the work of OSCHR in achieving this
co-ordination. (paragraph 3.5)
FUNDING AND TRANSLATIONAL RESEARCH
8.2. We recommend that OSCHR should take the
lead in developing a strategic vision for genomic medicine in
the UK with a view to ensuring the effective translation of basic
and clinical genomic research into clinical practice. (Recommendation
1). This strategic vision should form the basis of a new Government
White Paper on genomic medicine which should outline:
- the measures the Department of Health will take
in order to facilitate the translation of advances in genomic
science into clinical practice;
- a roadmap for how such developments will be incorporated
into the NHS; and
- proposals for a programme of sustained long-term
funding to support such measures (paragraphs 3.11 and 3.12). (Recommendation
2)
MAKING THE CONDUCT OF CLINICAL TRIALS LESS BURDENSOME
8.3. We recommend that the Government revises
the UK implementation of the EU Clinical Trials Directive, in
consultation with the research community, to make it less burdensome
for researchers (paragraph 3.17). (Recommendation 3)
8.4. If the European Commission decides in favour
of a review of the EU Clinical Trials Directive in 2010, we urge
the Government to participate fully in discussions in order to
ensure that the revised Directive is less burdensome for researchers
(paragraph 3.18). (Recommendation 4)
PROMOTING COLLABORATIVE TRANSLATIONAL RESEARCH
8.5. We recommend that the proposed White Paper
on genomic medicine (see Recommendation 2) and the Strategic Vision
of the Office for the Strategic Co-ordination of Health Research
should identify barriers to collaborative working between academia
and the pharmaceutical and biotechnology industries, and ways
of removing them and also address the need for incentives for
collaboration so as to promote translational research in the UK
(paragraph 3.26). (Recommendation 5)
RESEARCH TO DEMONSTRATE THE CLINICAL UTILITY AND
VALIDITY OF GENOMIC TESTS WITHIN THE NHS
8.6. We recommend that the National Institute
for Health Research ring-fence funding, through a specific Health
Technology Assessment programme, for research into the clinical
utility and validity of genetic and genomic tests within the NHS
(paragraph 3.32). (Recommendation 6)
EVALUATION OF THE CLINICAL UTILITY AND VALIDITY OF
GENOMIC TESTS FOR USE WITHIN THE NHS
8.7. We recommend that the Department of Health
extends the remit of the National Institute for Health and Clinical
Excellence to include a programme for evaluating the validity,
utility and cost-benefits of all new genomic tests for common
diseases, including pharmacogenetic tests (paragraph 3.38). (Recommendation
7)
EVALUATION AND REGULATION OF GENETIC AND GENOMIC
TESTS DEVELOPED OUTSIDE OF THE NHS
8.8. We recommend that the Government support
the re-classification of genetic tests to "medium risk"
in the current review of the EU In Vitro Diagnostic Medical Devices
Directive so as to ensure that all genomic tests on the market
have been subject to pre-market review before their use either
by the consumer directly or by the NHS and private healthcare
services (paragraph 3.41). (Recommendation 8)
INCENTIVES TO DEVELOP STRATIFIED USES OF MEDICINES
8.9. We recommend that the Government continue
to work with the pharmaceutical industry to extend value-based
pricing for the stratified use of medicines under the PPRS to
reflect the value of drugs sold for stratified use and the increasing
use of genetic tests to accompany such treatments (paragraph 3.49).
(Recommendation 9)
8.10. We recommend further that, with regard
to medicines for common diseases which are already in use in the
NHS, the National Institute for Health Research should target
funding to encourage the development of pharmacogenetic tests
to stratify use of these medicines in order to improve their efficacy
and to reduce the frequency of adverse reactions (paragraph 3.50).
(Recommendation 10)
INTELLECTUAL PROPERTY RIGHTS
8.11. We recommend that the Department for Innovation,
Universities and Skills address the issues relating to the management
of intellectual property rights within the healthcare sector to
improve incentives for stratifying uses of new and existing medicines
and for development of pharmacogenetic tests necessary for stratification
(paragraph 3.54). (Recommendation 11)
CO-DEVELOPMENT AND EVALUATION OF STRATIFIED USES
OF MEDICINES AND GENETIC TESTS
8.12. We recommend that the Department of Health
set out a national strategy on stratified uses of medicines (as
part of the proposed White Paper on genomic medicine (Recommendation
2 above)). The purpose underlying this strategy should be to streamline
the co-development of stratified uses of medicines and of pharmacogenetic
(or other) tests (paragraph 3.57). (Recommendation 12)
ENCOURAGING INNOVATION
8.13. We recommend that genomic science is adopted
as a key technology platform by the Technology Strategy Board,
to drive forward commercial development and clinical application
in this area over the next five years and to maintain the UK lead
in genomic medicine (paragraph 3.60).(Recommendation 13)
Implementation and service delivery through the
NHS (Chapter 4)
INTRODUCTION
8.14. We recommend that the Government should
reconsider how they will prepare NHS commissioners and providers
for the uptake of genomic medicine in the NHS. We also recommend
that the National Institute for Health Research, as part of its
remit, regularly monitors developments in genomic medicine and
their implications for the NHS now and in the future (paragraph
4.6). (Recommendation 14)
INTEGRATION OF GENETICS IN MAINSTREAM PRACTICE
8.15. We envisage that the proposed White Paper
(Recommendation 2 above) will address the operational changes
needed as a result of bringing genetic aspects of treatments for
common disorders into mainstream clinical specialities (including
changes to commissioning arrangements, processes for providing
genetic tests within the NHS and arrangements for NHS laboratories
to conduct such tests) (paragraph 4.12). (Recommendation 15)
PROVISION OF GENETIC SERVICES IN THE NHS
8.16. We recommend that, on the basis of the
monitoring activity of the National Institute for Health Research
(see Recommendation 14 above), the Secretary of State for Health
should ensure that any necessary NHS operational changes, as a
result of a shift in the provision of genomic services to mainstream
medicine in the NHS are implemented in the NHS. In order to facilitate
the process the Secretary of State should identify whether the
NHS is fit to handle such changes and also what new service models
are needed if health professionals from other clinical specialties
are to take routine responsibility for genomic aspects of healthcare
(with referral to specialist genetics services only where necessary)
(paragraph 4.19). (Recommendation 16)
COMMISSIONING OF GENETIC SERVICES
8.17. We recommend that the Department of Health
should conduct a review with the aim of establishing appropriate
commissioning structures for pharmacogenetic tests, tests for
management of genetically complex diseases and tests for diagnosing
single-gene subtypes of common diseases, as the use of such tests
spreads further into the mainstream NHS (paragraph 4.23). (Recommendation
17)
COMMISSIONING ACROSS THE NHS
8.18. We recommend that the Department of Health
should conduct a review of current genetic test service provision
within the NHS both for single-gene disorders and for single-gene
subtypes of common disorders. This should aim to eliminate what
are serious inconsistencies in the provision of genetic services
across the NHS (paragraph 4.28). (Recommendation 18)
UPTAKE OF PHARMACOGENETIC TESTS IN THE NHS
8.19. We recommend that the Department of Health
should develop a national set of standards and tariff guidance
for the commissioning of genetic tests, taking into account the
recommendations from the second phase of the Carter Review of
NHS Pathology Services that there should be tariff guidance for
community-based and specialist pathology, particularly relating
to DNA and RNA-based genetic tests (paragraph 4.32). (Recommendation
19)
8.20. We recommend that the Department of Health
should commission the National Institute for Health and Clinical
Excellence to issue guidance on the use of genetic tests by non-genetic
specialties; and that the NHS should consider the expansion of
the "red flag system" to alert healthcare workers to
the need to conduct a specific test, in some cases a pharmacogenetic
test, before deciding on treatment or prescription (paragraph
4.34). (Recommendation 20)
PROVISION OF LABORATORY SERVICES
8.21. We recommend that the Government centralise
laboratory services for molecular pathology, including genetic
testing, in line with the recommendations of the second phase
of the Carter Review of NHS Pathology Services. The aim should
be to organise effective laboratory services for molecular pathology
and genetics by bringing together the whole range of DNA and RNA-based
tests for pathology and medical specialties to ensure that services
are cost effective. This would have the potential to free up funds,
for example, for the highly specialised technical equipment that
is needed (paragraph 4.47). (Recommendation 21)
Computational use of medical and genomic data:
medical informatics and bioinformatics (Chapter 5)
EMERGENCE AND GROWTH OF BIOINFORMATICS
8.22. We recommend that the Government show leadership
on leveraging sustainable funding to the European Bioinformatics
Institute (EBI), through the European Research Infrastructure
(ESFRI) instrument and through the UK Research Councils. This
would reduce the dependence of the EBI on charitable and cyclical
funding and allow further growth of the Institute commensurate
with the recent growth in genomic databases and the value of the
EBI to the UK science base (paragraph 5.9). (Recommendation 22)
LINKING INFORMATICS WITH ELECTRONIC MEDICAL RECORDS
8.23. We recommend the establishment of a new
Institute of Biomedical Informatics to address the challenges
of handling the linking of medical and genetic information in
order to maximize the value of these two unique sources of information.
Such an institute would bridge the knowledge, culture and communications
gap that currently exists between the expertise in NHS IT systems
and bioinformaticians working on genome research. The Institute
would guide the NHS in the creation of NHS informatics platforms
that will interface with databases containing personal genetic
data and with publicly available genome databases (paragraph 5.21).
(Recommendation 23)
DEVELOPING EXPERTISE IN BIOINFORMATICS
8.24. We recommend that the Department of Health
should establish a centre for national training in biomedical
informatics (within the Institute of Biomedical Informatics) with
the aim of providing training that bridges the gap between health
records information technology and genome informatics, and ensuring
the delivery of an expert workforce for the NHS (paragraph 5.24).
(Recommendation 24)
IMMEDIATE INFORMATICS NEEDS OF NHS REGIONAL MEDICAL
GENETICS CENTRES AND LABORATORIES
8.25. We recommend that the Department of Health
should implement a programme of modernisation of computing and
information technology within the Regional Genetics Centres and
laboratories, including an upgrade in computer hardware, software
tools and communication bandwidth, in order to manage current
needs of clinical and genome informatics in the Regional Centres
(paragraph 5.31). (Recommendation 25)
Public engagement and ethical, social and legal
issues (Chapter 6)
PUBLIC ENGAGEMENT
8.26. We welcome the public engagement activities
that have been undertaken so far. We urge the Government and others
to continue them, building on the successful dialogue models developed
by Sciencewise. We have some concern, however, that these activities
have focused primarily on public understanding of single-gene
disorders. We urge the Government and other relevant bodies to
extend the scope of their public engagement activities to include
more detailed consideration of the implications of genetic tests
for common complex diseases (paragraph 6.7). (Recommendation 26)
8.27. We recommend in particular that the Human
Genetics Commission should promote a wide-ranging debate on the
ethical and social issues relating to genetic tests and gene associations
for genetically complex diseases and how they contrast with genetic
tests for single-gene disorders. The debate should aim to improve
public understanding of genetic risk and predictive testing in
common complex disorders (paragraph 6.7). (Recommendation 27)
8.28. We recommend further that the Department
of Health should establish a comprehensive and regularly updated
public information web site which would review the most recent
science on the genetics of common diseases, to help the public
to understand and interpret results of genetic tests (paragraph 6.8).
(Recommendation 28)
DATA-SHARING
8.29. When developing the "safe havens"
for research, recommended by the Data Sharing Review report,
we encourage the Department of Health to consider adapting the
approach developed by UK Biobank for ensuring the protection of
personal privacy as an exemplar (paragraph 6.25). (Recommendation
29)
DATA PROTECTION ACT 1998
8.30. The Data Sharing Review report suggested
that a statutory duty should be put on the Information Commissioner
to publish (after consultation) a data-sharing code of practice
to remove "the fog of confusion"—which should
include sector specific instructions where necessary. It also
recommended that where there was a genuine case for removing or
modifying an existing legal barrier to data-sharing, "a new
statutory fast-track procedure should be created". We support
these recommendations (paragraph 6.27). (Recommendation 30)
8.31. Further, we urge the Information Commissioner
to publish a set of clear, feasible and proportionate guidelines,
in accordance with the Data Protection Act 1998, specifically
for researchers handling genetic data for the purposes of non-personal
research in order to reduce the burden of data protection legislation
on researchers (paragraph 6.28). (Recommendation 31)
8.32. The Data Sharing Review report recommended
strongly that, due to the need for clarity over when data-sharing
is appropriate under the Data Protection Act 1998, although change
may be a long way off, the Government should participate "actively
and constructively in current and prospective reviews of the European
Directive, and assume a leadership role in promoting the reform
of European data law". We agree (paragraph 6.29). (Recommendation
32)
8.33. We recommend that, meanwhile, the Government
should seek to amend the Data Protection Act 1998 where possible
(including amendments to bring into effect Recommendation 31 above)
so as to facilitate the conduct of non-personal research using
genetic data (paragraph 6.30). (Recommendation 33)
GENETIC DISCRIMINATION
8.34. We do not believe that at present there
should be specific legislation against genetic discrimination,
either in the workplace or generally. But rapid advances in genetic
science mean that there is a continuing need to monitor the situation.
This should be undertaken by a designated body, possibly the Human
Genetics Commission (paragraph 6.40). (Recommendation 34)
LIFE INSURANCE
8.35. We recommend that the Government should
negotiate with the Association of British Insurers a new clause
in the Code of Practice, Moratorium and Concordat on Genetic Testing
and Insurance that prevents insurers from asking for the results
of genetic tests which were carried out while the Moratorium was
in place (paragraph 6.47). (Recommendation 35)
8.36. We recommend that the Government, together
with the Association of British Insurers, should establish a longer-term
agreement about the use of genetic test results for insurance
purposes. The moratorium is next due to be revised in 2011. This
would provide a good opportunity to take this recommendation further
(paragraph 6.48). (Recommendation 36)
8.37. Given that the Genetics and Insurance Committee
is to be disbanded, we recommend further that the Government should
put in place arrangements for monitoring the use of genetic tests
for insurance purposes. These arrangements should be part of the
longer-term agreement on the use of genetic testing in insurance
envisaged in Recommendation 36 above (paragraph 6.50). (Recommendation
37)
DIRECT TO CONSUMER TESTS (DCTS)
8.38. We support the Human Genetics Commission's
work on developing, with the industry, a voluntary code of practice
for selling genetic tests directly to consumers. The code should
include a requirement for companies to place in the public domain
information about the standards adhered to and the national accreditation
status of the company's laboratory, and the clinical validity
and utility of the tests offered. The code should also include
guidelines for provision of appropriate pre- and post-test counselling
and an ethical code of conduct for the sale of such tests (paragraph
6.66). (Recommendation 38)
8.39. Further to Recommendation 28 above, we
recommend that the proposed Department of Health web site should
set out the following:
- up-to-date information on the national or international
accreditation schemes with which the "direct to consumer"
test (DCT) laboratories are registered, including the laboratories'
registration status;
- the quality assurance schemes in which these
laboratories participate; and
- the extent to which the DNA sequence variants
used by DCTs for predicting risk of future disease have been validated
in the genome-wide association studies, and shown in prospective
trials to have utility for predictive genetic testing (paragraph
6.67). (Recommendation 39)
Training, education and workforce planning (Chapter
7)
MEDICAL STUDENTS
8.40. We believe that understanding the use of
genomic tools for diagnosis, stratification of patients and choice
of treatment in common diseases should form an important part
of the undergraduate medical curriculum and urge the General Medical
Council to take this aspect of disease management into account
in their current review of Tomorrow's Doctors (paragraph
7.8). (Recommendation 40)
DOCTORS IN PRIMARY AND SECONDARY CARE
8.41. We recommend that the Royal Colleges of
Pathologists, Physicians and General Practitioners, after consultation
with other relevant bodies, should develop a joint national strategy
for undergraduate and postgraduate education and training in genomic
medicine, with a clear timetable for implementation (paragraph
7.16). (Recommendation 41)
8.42. We recommend that the General Medical Council
should introduce training in genomic medicine as a core competency
in the Certificate of Completion of Training of all junior doctors
training in the medical and pathological specialties (paragraph
7.17). (Recommendation 42)
8.43. We recommend that general practitioners
should be trained to be able to provide general advice to patients
on the implications of the results of predictive tests for common
diseases. Planning how this might be done should be part of the
review by the Royal Colleges recommended in Recommendation 41
above (paragraph 7.18). (Recommendation 43)
8.44. We recommend that the Postgraduate Deans
of Medicine and Medical Education for England, together with the
relevant Royal Colleges and the Postgraduate Medical Education
and Training Board, reinstate the currently suspended training
programme in genetic pathology with a view to reintroducing a
viable programme for the intended small number of pathologists
(perhaps up to five at any one time) training in this specialty.
This training may need to be overseen by both pathologists and
clinical geneticists and could lead to the possibility of dual
accreditation in genetics and pathology (paragraph 7.19). (Recommendation
44)
8.45. We also recommend that the Department of
Health should work with the Postgraduate Deans of Medicine and
the relevant Royal Colleges to reinstate consultant posts in genetic
pathology capable of absorbing a sustainable number of registrar
training posts (paragraph 7.20). (Recommendation 45)
8.46. We recommend that genomic medicine is included
as a clinical competency within continuing professional development
(CPD) for clinicians in primary and secondary care, and that this
is recognised by the Royal Colleges which monitor CPD (paragraph
7.22). (Recommendation 46)
GENETIC EDUCATION FOR NURSES
8.47. We urge the Nursing and Midwifery Council
to set detailed standards across the curriculum on genetics and
genomics for nurses, both for pre-registration nursing education
and as part of post-registration education and practice (paragraph
7.24). (Recommendation 47)
GENETIC COUNSELLING
8.48. We recommend that the Department of Health
should review provision of genetic counselling with regard to
both single-gene disorders, single-gene subtypes of common diseases
and common diseases (paragraph 7.31). (Recommendation 48)
8.49. On the basis of the findings of the review,
we recommend further that the Department should take steps to
ensure that adequate provision for genetic counselling is made
available within the Regional Genetic Centres and also outside
the Centres. The review should take account of the increasing
need to support non-specialist physicians in giving accurate and
informed advice to patients, and their families, following diagnosis
of a single-gene subtype of a common disease (paragraph 7.32).
(Recommendation 49)
8.50. The review should also consider the content
and scope of training courses for genetic counsellors to ensure
that they are able to provide advice on single-gene subtypes of
common diseases as well as single-gene disorders; and give consideration
to statutory professional regulation of genetic counsellors (paragraph
7.33). (Recommendation 50)
NATIONAL LEADERSHIP AND THE ROLE OF THE NGEDC
8.51. We recommend that the Department of Health
reviews the National Genetics Education and Development Centre's
(NGEDC) role, to establish whether it has the appropriate structure
and mechanisms in place to provide national leadership in training
the general medical and nursing workforce in the practice of genomic
medicine and the use of genetic testing in the context of common
diseases. The aims of the review should be to establish a national
programme of training in genomic medicine for the non-genetic
medical and nursing specialties, either under the auspices of
the NGEDC or another body (paragraph 7.37). (Recommendation 51)
WORKFORCE PLANNING
8.52. We recommend that, as part of the current
review of the healthcare scientific workforce, the Department
of Health should consider how members of the current healthcare
science workforce can be trained to enable them to use the new
genomic technologies and, bearing in mind Recommendation 53 below,
how to develop bioinformatics skills in particular (paragraph
7.43). (Recommendation 52)
8.53. We support the Department of Health's commitment
to establish a Centre of Excellence for national planning and
commissioning of workforce supply and demand. We recommend that
the Centre is the appropriate body to provide advice to the NHS
on what measures can be taken to address the pressing need to
recruit bioinformatic expertise into the service (paragraph 7.47).
(Recommendation 53)
8.54. We recommend that the Centre should be
asked also to evaluate the workforce planning implications of
an expansion of genetic and genomic test services into mainstream
specialties (paragraph 7.48). (Recommendation 54)
| 
