Memorandum by the Royal College of Physicians
I am writing on behalf of the Royal College
of Physicians to express our endorsement of the Joint Committee
on Medical Genetics written submission to the above Inquiry (sent
21 April 2008
Memorandum by the Royal College of General
1. The College welcomes the opportunity
to respond to the House of Lords Science and Technology Committee's
call for evidence on Genomic Medicine.
2. The Royal College of General Practitioners
is the largest membership organisation in the United Kingdom solely
for GPs. It aims to encourage and maintain the highest standards
of general medical practice and to act as the "voice"
of GPs on issues concerned with education, training, research,
and clinical standards. Founded in 1952, the RCGP has over 33,000
members who are committed to improving patient care, developing
their own skills and promoting general practice as a discipline.
3. We consider the questions raised by the
committee to be timely and relevant. We believe that genomic medicine
must be developed in such a way that places the patient first,
giving particular consideration to issues of patient consent.
It is also essential that such technology is developed in consultation
with a wide range of healthcare organisations to ensure that it
is applied to clinical practice effectively and appropriately.
4. We would advise that any policy framework
should be developed in collaboration with relevant expertise groups,
including the Manchester National Centre for Primary Care Research
5. Funding should be available for applied
health services research and not be restricted to laboratory-based
research. Research priorities should include clinical studies
at the level of the individual patient, taking into account patient
perceptions of the value and the best use of data.
6. The principles of managing the use of
information in a health care setting should be those of patient-centred
ethical practice. There should be safeguards on individual data.
GPs will need to be careful in the future when filling in Personal
Medical Reports about what genomic information is provided to
insurance companies as this may impact on insurance loading.
7. There is a clear need to adapt GP systems
to allow the future recording of genome data. As GPs will have
a responsibility to store genome data on their IT systems, there
will need to be a dialogue between primary care IT experts and
the IT software industry to determine how such information can
be stored and accessed.
8. It may well be possible in the future
for completely anonymised genetic data to be linked with anonymised
medical records and utilised for research. While the general public
appear to have little or no objection to totally anonymised clinical
data being used for research purposes, whether this is true for
genetic data is unclear.
9. When patient consent is sought for the
use of non-anonymised genomic material for research purposes,
it is difficultindeed probably impossibleto ensure
that all potential uses can be foreseen at the time of consent.
10. It is likely that in the future, obtaining
consent for genetic testingwhether for clinical care of
for researchwill increasingly fall to general practitioners.
This has implications for training, in particular ensuring that
GPs have the necessary expertise and feel confident in their ability
to undertake such tasks.
11. The storage of genetic information on
databases poses the risk of violation of individual privacy and
confidentiality. We would caution against interfacing such databases
with the NHS spine as this could increase the risk.
12. The translation to clinical practice
should include consultation with the royal colleges at every step.
This is because it is likely to be primary care services which
are in the best position to use data for prevention, shared decision
making and effective referral.
13. Re "future-proof" technologies:
In such a fast moving field, virtually any technology invested
in will inevitably become obsolete at some point in the future.
However, a moratorium on investment is not advisable. This is
because it would be difficult for healthcare or research organisations
to suddenly rejoin the world of modern genetics having stood still
for a number of years. Developments in this technology are incremental,
and therefore ongoing investment is needed to maintain and update
workforce skills, experience and expertise.
14. We anticipate that genomic medicine
will have a major impact on healthcare, and we are already seeing
this with sub classification of diseases eg Diabetes (MODY). General
Practice must accept this and be aware of the changing classification
of disease and the potential interventions that may differ depending
on disease state. As with all developments in medical technology,
training will need to follow the emerging evidence base, and GPs
will have to feel confident to give patients the relevant advice.
15. In order to disseminate expertise on
this rapidly developing technology, it may be necessary to provide
community based genetics advisory services. Involving close collaboration
between regional genetics departments and primary care, they will
act as a centre where local primary care physicians can access
help and information when faced with clinical problems or issues
associated with the ethical, legal and social aspects of genome
16. The application of genome technologies
in medicine may have many benefits, but it must not be assumed
that all persons would wish to submit themselves for genetic testing.
If a person is found to have a high risk of a condition, there
will be instances where this is likely to be shared by relatives.
While some relatives might wish to be tested, others may not,
particularly if they believe that there is little they can do
to alter the situation.
17. GPs regularly advise their patients
to eat a balanced diet, take exercise, not to smoke and limit
their alcohol consumption. Giving patients inappropriately negative
impressions of their health status can lead to anxiety, depression
and the restriction of activities that they might otherwise engage
in. This situation could arise with the provision of genetic information
18. Genetic testing can, of course, throw
up ethical debates about the benefits to society versus the rights
of the individual. A member of the College reported being engaged
in such a debate about genetic testing for Huntington's Chorea
and the implications for other family members.
Additional points and recommendations:
19. One of the difficulties faced by organisations,
such as the National Institute for Health and Clinical Excellence
(NICE), is the need to find a means to prioritise diagnostic technologies
for rapid evaluation. A College member has recently developed
prioritisation criterion for use by organisations.
The criterion includes questions relating to the nature of the
disease being tested (eg is the condition an important problem
in terms of prevalence and incidence or morbidity and mortality?),
questions relating to the diagnostic technology involved (eg has
the safety and analytical validity been established?) and questions
relating to the impact of the diagnostic technology (eg could
greater diagnostic precision using the technology lead to better
targeted treatment delivery?).
20. I acknowledge the contributions of Professor
Liam Smeeth, Dr Nick Summerton, Professor Amanda Howe, Dr Imran
Rafi and Dr Andrew Ross towards the above comments. While contributing
to this response, it cannot be assumed that those named all necessarily
agree with all of the above comments.
23 April 2008
1 A chapter on Genetics is now part of the RCGP curriculum Back
BMJ 2008;336:683 (29 March) Back