Joint Committee on Medical Genetics
The Royal College of Physicians The British Society for Human GeneticsTheRoyal College of Pathologists
RCP 11 St Andrews PlaceRegents ParkLondon NW1 4LE
The
sixth meeting of the Joint Committee on Medical Genetics was held at the Royal
College of Physicians on Tuesday 27th September 2000 at 2.00 pm
Present
Professor Peter A Farndon (Chairman
RCP
Dr Julie Crow
(RCPath Registrar)
Professor
Neva Haites (BSHG Chairman)
Dr Stephen
Abbs (RCPath)
Dr Naomi
Brecker (NHSE Observer)
Dr John Tolmie (RCP JCHMT SAC)
Dr Jill
Clayton-Smith (RCPCH)
Professor
Dian Donnai (CMO Adviser)
Dr Rob Elles
(BSHG
Mrs Margaret
Fitchett (RCPath)
Dr Alan Fryer
(RCP)
Dr Helen
Hughes (BSHG)
Professor
Noor Kalsheker (RCPath)
Professor Sue
Malcolm (RCPath)
Professor
Robert Mueller (RCP)
Professor
Peter Soothill (RCOG)
Dr Virginia
Warren (FPHM
Mr Peter
Plume (RCP Committee Administrator)
In Attendance:
Dr
Cyril Chapman and Dr Ron Zimmern
1 Apologies for absence/Welcome/Introduction
Professor Ian Gilmore (RCP Registrar).
Apologies for absence were received from Mr John Barber (BSHG), Dr Paul
Brennan (RCP trainee), Ms Caroline Browne (RCPath trainee), Professor Michael
Connor (Scottish Colleges), Dr Dennis Cox (RCGP), Dr Lorraine Gaunt (BSHG), Mrs
Penny Guilbert (BSHG), Mr Alastair Kent (GIG), and Mr Anthony Taylor (DH
Observer).
2 Minutes
The minutes of the meeting held on 24 May 2000 were confirmed and signed.
3 Matters Arising from the Minutes
3.1Patents
and genetic testing
a)Report
on BRCA testing discussions
Dr Brecker reported that a “memorandum of understanding” was being drawn
up with Rosgen, and was in its final stages of preparation. This would be
circulated widely, including to the Joint Committee and comments sought.
It was noted that press reports of an agreement having been signed with
Rosgen Ltd were untrue.
Action: the Chairman would distribute
the memorandum to members for comment (who may consult widely within their
professions) after which he would reply to the Department of Health
b) Rosgen (Document)
The Chairman had received a letter from Rosgen stating their
interest to work closely with organisation such as the Joint Committee to ensure
that their services were offered “in a proper and responsible fashion”. They
asked whether a representative could attend the next meeting to address the
concerns of members. They also asked whether it would be appropriate to grant
Rosgen observer status at the Joint Committee meetings.
It was agreed that the chairman would invite representatives
from Rosgen to the next meeting to give a presentation of their proposals for
providing a service, and to explain parts of their leaflet such as the term
“genetic counsellor”.)Professor Donnai had concerns about the provision of
counselling as it appeared that women will not be able to undertake the test
commercially unless counselling has taken place. Rosgen would be asked to
prepare a summary to be distributed before the meeting, in keeping the
committee’s way of working.
It was agreed that the time was not right to grant a
commercial organisation observer status to Joint Committee meetings, but that in
future, an industry representative may be appropriate.
Professor Mueller pointed out that it was important that the
committee would be willing to receive presentations from other companies in the
future when appropriate.
3.2 Clinical governance
a)Clinical Genetics Society Implementation Group
Dr Hughes confirmed that the Clinical Genetics Society had set
up a working group of 16 (including trainee representatives) to undertake an
implementation and development plan.
Four main topics would be considered:
Guidelines re follow-up and recall
Letters to families
The clinical genetic management of cardiomyopathy (as a model)
Presymptomatic testing
Dr Hughes was contacting NICE to inform them of this
initiative.
b) National confidential enquiry into genetic counselling by
non-geneticists (CEGEN)
The chairman confirmed that he written to the President of the
Royal College of Physicians in response to information about CEGEN received by
the President, who had forwarded it the Joint Committee.
One of CEGEN’s recommendations had been the need for a
national policy for improving undergraduate and postgraduate medical, nursing
and midwifery education in genetics, and the requirements for clinical
governance. The chairman had outlined the initiatives which the joint committee
were instituting, which had been forwarded to Professor Harris. Details of these
are in other section minutes of this meeting.
Professor Harris has confirmed that a presentation on CEGEN is
being given to NICE at their meeting on 29th November.
3.3 Genetics proforma for antenatal care (Document)
The chairman confirmed that he had written to the Presidents
of the Royal College of Obstetricians and Gynaecologists, the Royal College of
General Practitioners, and the Royal College of Midwives with the proposal from
this committee that in the long term there should be an attempt to devise a
genetics proforma for use in antenatal clinics.In the interim, he asked for
their opinions on reviewing the lists of diseases in the National Pregnancy
Record about which specific enquiries were made at the antenatal booking
clinic.Responses are awaited.
Professor Soothill commented that the existing National
Pregnancy Record was likely to form the template for the electronic record, and
therefore work on improving the checklist may be beneficial.He felt that,
although more difficult, it may be worthwhile compiling a document from this
committee on the standard of “genetic care” which should be offered in the
antenatal clinic. The committee agreed that there was a need to define what
constituted a “genetic disease”, that the standard of care proposed should
be deliverable, and that such a proforma would need be accompanied by training
opportunities (provided by the genetic community) for antenatal clinic and
primary care staff.
Action:Professor Soothill would convene a small group to
consider this further
3.4 Medical Devices Agency
a) In vitro diagnostic device directive
The chairman has written to the MDA following advice from Dr R
Elles. The Joint Committee has welcomed the directive as a protection for
patients from sub-standard test kits.
b) CVS transport medium
The Committee noted an MDA alert over the use of CVS transport
to flush out CVS cannulae and supported the recommendation that normal saline
should be used.
3.5 United Kingdom Haemophilia Centre Directors’ Genetics
Working Party
Dr A Fryer reported that he had attended three meetings. The
Working Party had discussed provision of service, gene therapy, and testing of
minors for carrier status. They were also concerned with issues of consent and
confidentiality, and will be interested in the report of the Joint Committee’s
Consent and Confidentiality Working Party. Dr Fryer commented on the similarity
of issues concerning both the Haemophilia Directors and this Committee.
3.6 Membership of Consent and Confidentiality Working Party
The remit is “to identify issues of consent and
confidentiality specifically related to genetics and produce guidelines for
practice”.
The members of this working party are:
Dr Fiona Douglas (chair)
Professor Alexander McCall-Smith (Vice-chairman, Human Genetics Commission)
Professor Neva Haites
Ms Penny Guilbert
Dr Elaine Gadd
Dr Carol Chu
Mr John Barber
Dr Stewart Payne
Mr Alistair Kent
Dr Judith Goodship
Mr Marek Sergot
The chairman of the Joint Committee will be an ex officio
member.
The first meeting is being held in Newcastle on November
27th.Questionnaires will be distributed to genetics units about current
practice.
4.Nuffield Trust Genetics Scenario Project (Document)
This report was warmly welcomed by the committee, and Dr R
Zimmern led a discussion on the main recommendations. The aim had been to assess
the likely impact of genetics and so lead to recommendations about services. The
two main drivers had been identified as the delivery of the science and public
acceptance. Recommendations were in seven main areas: regulatory framework,
educational strategies, information and confidentiality, financial framework for
health, commercial considerations, investment in the basic science base and
health and health service provision. It was noted that there was a need to
foster partnerships between academia, the NHS and industry particularly for the
last three.
The Chairman was concerned to know if a mechanism existed for
implementation of the report’s recommendations. Dr Zimmern advised that the
Nuffield Trust was organising a Scoping Meeting on October 25th to inform
a further meeting in the Spring.
5 Public Health Genetics Unit
Dr Zimmern reported that the first part of the Summer School
for Commissioners had been oversubscribed and much appreciated by participants.
He expressed his concern that no formal links existed between
genetics committees and the National Screening Committee.The Joint Committee
noted that one of our members, Professor Neva Haites, was a member of the
National Screening Committee.
Dr Zimmern advised members that he was currently a member of
the Health Technology Assessment Screening Committee, and that from 2001, he
would take over as Chairman.
He presented two new initiatives of the Public Health Genetics
Unit:
a)Setting up a network of health economists to consider issues
in the provision of genetic services
The Committee welcomed this initiative to inform the debate
about outcomes of genetic services, but Professor Donnai expressed the hope that
the group would address and study issues such as health gain rather than using
simple measures (for instance, counting numbers of patients seen/samples
processed).
b)Applying the “cancer model” to other groups of diseases
Dr Zimmern suggested that the model which has been applied to
determine which families are at highest risk of inherited forms of cancer might
be applied to cardiac disorders, such as cardiomyopathies.He had been in
discussions with Professor Steve Humphries, and a one day meeting was being
proposed in the Spring to explore this.
6 DNA Services
a)Working Group on Laboratory Services in Genetics(Document)
A copy of the summary of the report of this Working Group
(Chaired by Professor Martin Bobrow) had been circulated to Joint Committee
Members. Dr Brecker introduced the report. Although the main focus was on
laboratory services, the report emphasised that these were interconnected with
the provision of clinical services. The report recommended the need for a
national strategy and co-ordination, with the setting up of a national group to
oversee this. Dr Brecker confirmed that the Working Group report was to be on
several agendas, including that of the NHS Executive Board. Any feedback would
be welcomed from the Joint Committee.
The Chairman undertook to distribute the report’s appendices
by email to the Joint Committee. A printed version of the complete report would
be distributed to Joint Committee members immediately on publication which was
expected within a few weeks.
Action:Chairman
Professor Kalshaker noted disappointment that the report did
not address how the genetic laboratory services would link up with the
established network and infrastructure of pathology laboratories in other
disciplines. Mrs Fitchett agreed that it was important that there was
co-ordination of services provided by genetic laboratories and those genetic
laboratory tests provided by other pathology laboratories.
The Chairman was asked to write to welcome the report as its
proposals will strengthen the service to patients, but there was concern that a
mechanism be agreed for the recommendations to be instituted. The Chairman
thanked the British Society for Human Genetics for agreeing to defer its own
proposals and plans for laboratory genetic services until Professor Bobrow’s
report had been published, but in so doing the British Society had been very
mindful of the problems encountered now by the genetic laboratories and how
urgent solutions were needed. The Chairman would emphasise to the Department of
Health there were problems now which needed to be addressed in the light of
Professor Bobrow’s report for the future.
Dr Brecker asked that if a national advisory group to
implement the report were agreed, the Joint Committee would work with the
Department of Health in setting up such a group. The Committee welcomed this.
b)Letter from British Society for Human Genetics (Document)
The President of the Clinical Genetics Society and Chair
person of the Association of Genetic Nurses and Counsellors had written to the
President of the British Society for Human Genetics with concerns about adequate
pre and post test counselling and information with regards to the potential
growth of molecular genetic testing in non NHS laboratories. There was concern
over potential misinterpretation of molecular tests by untrained professionals. It
was important that counselling to the standards found in the NHS genetic
services were explicitly funded in service agreements where private laboratories
may be asked to provide molecular testing for the National Health Service, and
that genetic tests provided privately had a level of counselling and support to
an agreed standard.
In discussion, education and training of non genetic
professionals were again highlighted and the workforce planning implications
these would have on the existing genetic services. Dr Brecker confirmed that the
Department of Health was very aware of many of the issues contained in the
letter, and that the clinical and laboratory service requirements of genetic
testing for predisposition to familial forms of cancer were recognised in the
national cancer strategy.
The Chairman undertook to ensure that the letter had been
passed on to the Department of Health.
7 Human Genetics Commission (Document)
a) The work programme of the Human Genetics Commission was noted. The
HGC has decided that its first priority should be to set up a working group
relating to storage protection and use of genetic information. The HGC will
continue to review (either through its own sub groups or through links with
outside organisations) proposals in relation to NHS genetic services (through
the genetics strategy project), developments in genetic testing, social and
ethical issues in relation to patents, and reproductive choice issues.
b) Patients panel. The Chairman had written to Minister Yvette
Cooper welcoming the establishment by the Human Genetics Commission of a
patients panel. The Joint Committee had agreed with the Genetic Interest Group
that the absence of anyone representing patients with genetic disorders was a
major omission on the HGC, although there were representatives from the British
Association of Disabled People and the Consumers Association.
8 Department of Health/NHS Executive
a) References to genetics in “the NHS plan”. (Document) It
was noted (paragraph 11.15) that the Government intends to commission NHS
research and development in “medical knowledge parks” to “evaluate all
aspects of the emerging developments in genetics, from the laboratory testing to
the requirement of counselling of patients”. As far as could be ascertained,
no further information about these is available yet.
b) Revised guidance on laboratory containment measures for work
with clinical cytogenetics and tissue samples. (Document)
The Joint Committee supported this guidance.
c) DH/NHSE Review of Genetic Services
Dr Brecker commented on the need to break down administrative
boundaries between the Department of Health and the NHS Executive and that a new
unit was being established with Sir John Pattison as Sponsor/Director. This
would bring together currently disparate groups in Government involved with
human genetics. Further details were awaited.
d) Commissioning Workshop, June 2000
A Workshop for Commissioners had taken place in June to encourage sharing of good practice over current commissioning arrangements. In addition, work on future arrangements for commissioning genetic services (as with other regional specialties) was being undertaken with the London Regional Specialised Commissioning Group taking the lead.
Several members of the Joint Committee had attended a meeting
earlier in the day where the London Regional Specialised Commissioning Group
were considering what should be included in the definition of genetic services
as a specialty. A draft definition had been produced and further work on this by
members of the Joint Committee would be welcomed.
It had also been identified that different genetics units used
different contract currencies. The London Regional Specialised Commissioning
Group had requested that the Joint Committee consider work towards the obtaining
of consensus of clinical and laboratory contract currencies. Dr Elles commented
that the Clinical Molecular Genetics Society already collects standardised data
and the format of these may be useful in further discussions. It was noted that
several different systems for measuring clinical activity were in use.
It was agreed that the Chairman would consult members outside
the meeting and consider forming a working party, involving regional genetics
centres.
e) Genetics Strategy project
Dr Brecker reported that the Planning Division of the
Department of Health was undertaking a genetics strategy project to identify
service models which might be appropriate for 2010.This project should be
reporting towards the end of the year.
9 Genetics Education
It was noted that several other organisations including the
Human Genetics Commission, the Wellcome Trust, the Public Health Genetics Unit
and nurses and midwives were also considering this subject.
a) Genetics knowledge/education for non genetics professionals
Dr Clayton-Smith noted from the results of her survey that
there are very differing thoughts on what sort of genetics education is needed,
and that the content and form need to be tailored to different groups with the
support of a more formalised structure.
b) Discussion on genetics education for Physicians; the Royal
College of Physicians Medical Specialties Board.
The Chairman reported on the response from other medical
specialties to a document he had prepared asking for views on genetics education
for physicians. Responses have been received from general internal medicine,
genito-urinary medicine, gastroenterology and hepatology, rheumatology, clinical
pharmacology and therapeutics and geriatric medicine. They were remarkably
similar asking geneticists to suggest the advances in genetics which would be
important for the practice of their specialties. They also suggest that
objectives and core competencies for specialist registrars in their subjects
with regard to genetics be identified. This teaching should be provided by geneticists! The
President of the London Royal College has asked the other specialties to reply.
c) Undergraduate medical training in genetics
Professor Haites reported some results from a questionnaire
organised by the Wellcome Trust on undergraduate (medical and nursing) training
in genetics. Professor Haites felt that there was a willingness to consider a
national curriculum for medical schools to ensure that the basic core subjects
are covered. The aim would be to develop a consensus view of the curriculum,
rather than a specification as to how it should be taught.
The Chairman and Professor Haites would be discussing with the
Wellcome Trust a possible source of funding to organise a meeting of medical
schools to discuss this further.
d) National training course for genetics
The Chairman commented that setting up a national training
course in genetics appeared to be one way forward which would meet many
identified needs. In the first instance it would be envisaged as a national
modular course for specialist registrars in clinical genetics, but it could be
expanded with other modules for registrars in other specialties. The core
genetics of such a course would also be appropriate for other professionals in
the genetic services.
The Chairman was seeking funding to set up a meeting to
consider this further including identifying curriculum content and objectives.
10 Role of the Clinical Geneticist (Document)
Dr Hughes presented a report on the role and responsibilities
of the clinical geneticist. The Joint Committee felt that this definition would
be extremely helpful, especially in manpower strategy discussions.
11 Genetics Databases: House of Lords Committee on Science and Technology (Document)
It was noted that many issues raised were within the remit of
the Human Genetics Commission, but the House of Lords Committee is investigating
current and planned genetic databases. Comments had been received before the
meeting (in enclosures) from Dr Fiona Douglas and Dr Mike Creasey and it became
apparent that several members of the Joint Committee and its constituent
organisations had plans to respond.
12 Guidance for Ethical Committees on
Genetics (Document)
Dr Cyril Chapman had been invited to discuss the practical
problems of submission of genetic projects to ethical committees. Many genetics
projects (especially where rare disorders were concerned) involved relatively
few patients geographically widely separated. The existing mechanism for
multi-centre trials was often inappropriate for genetic projects. Dr Chapman
commented that guidance and recommendations for handling projects involving
“genetics” would be extremely helpful for medical research ethics
committees.
The Chairman believed that national guidance for local
research ethics committees and multi-centre research ethics committees was being
considered and therefore time was opportune for the genetics community to offer
advice and guidance, which he understood would be welcome. It was agreed that Dr
Chapman would form a small group to consider this further.
Action: Chairman
13
Matters from the Royal College of Physicians
a)Physicians in the pharmaceutical industry. (Document)
This RCP publication was discussed to consider whether it
required any amendments specifically relating to genetics. It was felt that the
document dealt largely and successfully with the issues of prescribing and drug
trials, but not with tests performed in a commercial setting. Do NHS clinicians
have responsibility to explain to patients the significance of a genetic test
performed through a pharmaceutical company? It was not considered that gene
therapy and gene therapy trials posed any matters different from those already
in the document.
Pharmaco-genetics was seen as one area where there may be
ethical issues related to whom will be performing genotyping so that drug
treatment can be tailored. Will the biotechnology/pharmaceutical companies
themselves want to supply the tests with their drugs? It is obviously good
practice that a physician should be aware of any test that is available that
would alter a person’s drug response and institute such tests. The same
principles apply to consultancy fees as in the existing document.
A Clinician’s relationship with a pharmaceutical company who
wishes to determine susceptibility to multi-factorial diseases by testing large
numbers of patients was also discussed.
These comments will be passed on to the College.
b) Consultant Physicians working for patients; Manpower
assessment
Members of the Committee had previously been involved in
identifying the components of a consultant clinical geneticist’s work, and
suggesting the time commitment associated with these components. It had been
possible, assuming a full-time consultant providing a clinical service (without
clinical director responsibilities, teaching or research) to calculate that a
minimum of three whole-time equivalent consultant clinical geneticists were
required per million population. This figure was remarkably similar to that
estimated, using different methodology, by the Clinical Genetics Society
recently.
c) GMC Proposals for revalidation
The Chairman had consulted several members of the Committee to
formulate a response to the Royal College of Physicians about the applicability
of the General Medical Council’s proposals for revalidation to clinical genetics. It
had been felt that the GMC proposals for revalidation would apply to the
specialty of clinical genetics without amendment.
d) Continued professional development committee
It was noted that the London Royal College had set up a continuing professional development committee.
14 Manpower and Training
a) RCPath, SAC Professor S Malcolm
It was noted that there were two unfulfilled NTNs in genetic
pathology.
The “genetics curriculum” is available in the
“trainees” section of the Royal College of Pathologists website.
b) SWAG specialty review clinical genetics Professor R Mueller.
The Joint Committee was delighted to hear that, after a great deal of pressure over a considerable period of time from the genetics community, it appeared that there would be no further reduction in training numbers for specialist registrars in clinical genetics, and that there was the possibility of 30 new posts being made available over the next 3 years to fill the projected number of consultants.The Joint Committee recommended that consideration be given to placing trainees in centres where all the educational objectives can be met, rather than distributing the trainees on an even geographical basis
c) JCHMT SAC in clinical genetics Dr J Tolmie
Dr Tolmie commented that JCHMT wishes the curriculum to be re-written in a standard form, and that the first draft should be available by the end of the year. The new form makes competencies clear, but Dr Tolmie warned that increased consultant time would be required to administer and meet the new system.
15 Publications received
a) RCOG/RCPath Joint Working Party Report on Fetal and
Perinatal Pathology (awaiting publication on RCOG and RCPath websites)
b) Genetics Law Monitor (http://www.geneticslawmonitor.com)
c) Genetic Research and You (leaflet from Consumers for Ethics
in Research)
d) Genetic screening: technical and ethical issues. Recommendations and background document from the European Society of Human Genetics Professional and Public Policy Committee.
16 Dates of Future Meetings
Tuesday 16 January 2001 at 2.00 pm at the RCP
Wednesday 23 May 2001 at 2.00 pm at the RCP