APPENDIX 3: CALL FOR EVIDENCE
Call for Evidence: Genomic Medicine
The House of Lords Science and Technology Committee
has appointed a sub-committee, chaired by Lord Patel, to look
at genomic medicine. The inquiry will provide an assessment of
genome technologies and their actual and potential impact on clinical
practice in the post-genome era.
The Committee invites evidence on the following questions:
Policy Framework
- Who is in charge of setting and reviewing policy
in this area?
- 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?
- Does the existing regulatory and advisory framework
provide for optimal development and translation of new technologies?
Are there any regulatory gaps?
- In what way is science and clinical policy decision-making
informed by social, ethical and legal considerations?
- How does the framework compare internationally?
Research and Scientific Development
- What is the state of the science? What new developments
are there? What is the rate of change?
- Who is taking the lead in the consideration and
co-ordination of research and the development of new technologies?
- How effective is the policy and investment framework
in supporting research in this area?
- How does research in the UK compare internationally?
How much collaboration is there?
- What are the current research priorities?
- What is the role of industry? How much cross-sector
collaboration takes place?
Data Use and Interpretation
- Is genomic information published, annotated and
presented in a useful way? Should there be a common, public database?
If so, who should fund, and have responsibility for, such an initiative?
- Who should provide the framework for optimal
evaluation of data and translational opportunities? What policy
and funding mechanisms are in place for recognising and utilising
potential opportunities?
- Is other medical information recorded in a suitable
format to allow optimal interpretation of genomic data? How should
genomic data be brought together with other health information?
- 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?
Translation
- What opportunities are there for diagnostics,
therapeutics and prognostics—now and in the future?
- Who is responsible for translation to clinical
practice?
- Given the pace of technological advance, how
'future-proof' is healthcare investment in this area?
- How does the UK compare to other countries and
what lessons can be learnt?
- How meaningful are genetic tests which use genome
variation data? What progress has been made in the regulation
of such tests?
Biomarkers and Epidemiology
- In what way do genome-wide association studies
contribute to the identification of biomarkers? How is the study
of genetic factors and biomarkers integrated for translational
purposes?
- What impact will genomic data have on data emerging
from projects such as UK Biobank, Generation Scotland and other
biobanks?
Use of genomic information in a healthcare setting
- What impact will genomic information have on
the classification of disease? How will it affect disease aetiology
and diagnostic labels?
- 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?
- What are the implications of developments in
genomic technologies for the training of medical specialists and
other health professionals? Are there any gaps that need addressing?
What is the assessment and planning for future needs in capacity?
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