Joint Committee on Medical Genetics
The Royal College of Physicians, The British Society for Human
Genetics, The Royal College of Pathologists
RCP 11 St Andrews Place Regents Park London NW1 4LE
A summary of the fourth meeting of the Joint Committee on Medical
Genetics held on Tuesday 11th January 2000
Present:
Professor Peter A Farndon (Chairman RCP)
Professor Sir George Alberti (PRCP)
Dr Julie Crow (RCPath Registrar)
Professor Andrew Read BSHG Chairman
Mr John Barber BSHG
Dr Angela Brady RCP trainee representative
Dr Naomi Brecker NHSE Observer
Ms Caroline Browne RCPath trainee
Dr Angus Clarke 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 Lorraine Gaunt BSHG
Mrs Penny Guilbert BSHG
Dr Helen Hughes BSHG
Professor Noor Kalsheker RCPath
Mr Alastair Kent GIG
Professor Sue Malcolm RCPath
Professor Peter Soothill RCOG
Ms Hilary Irons RCP Committee Administrator
In Attendance: Dr Fiona Douglas, Professor Neva Haites, and Dr Ron Zimmern
1:
Apologies: Professor Michael Connor (Scottish Colleges), Dr Dennis Cox (RCGP),
Professor Robert Mueller (RCP), Dr Virginia Warren (FPHM), Mr Anthony Taylor
(DH Observer), and Professor Ian Gilmore (RCP Registrar).
Dr Angela Brady was relinquishing her position as the RCP trainee
representative.
The Chairman referred to the new developments and initiatives for genetics
and commented that he believed the Joint Committee should be actively
involved. The main areas were the education of both the general public and
health care professionals, maintaining and improving standards of service
provision, and manpower planning. The issues of consent and confidentiality
had also become most important. The Joint Committee should set down its views
on how best genetic services could be provided in the future.
2 DH/NHSE Review of Genetic Services
This report had been delayed. From April 2000 genetic services would be
designated a priority specialty for regional specialist commissioning groups.
The Chairman referred to a letter from Dr Barber pointing out that regional
specialist commissioning groups did not have a budget and had no control over
fund-holding authorities who commissioned services. DH/NHSE appreciated that
this point and there were groups looking at the appropriateness of methods of
commissioning. It would be helpful if appropriate benchmarking measures could
be established between Regions.
3 Patents and genetic testing
It was understood that Myriad was in the process of licensing to the UK a
bio-technique for breast and ovarian cancer. Reliable information was awaited.
It was reported that in Holland it may have been agreed that a proportion of
the testing could continue in the health laboratories but that unresolved
cases would go to Myriad. These developments had been discussed at the BSHG
Council meeting and were regarded with extreme concern. There was concern
about being able to operate a service as a package and not as disparate items.
The Joint Committee's concerns were being reported to the Department of
Health.
4 Clinical governance
The Council of the BSHG had accepted the outline document prepared by the
Clinical Genetics Society, which was being printed and would be circulated
widely. The BSHG would consider how best to proceed but as there were aspects
which would affect genetic centres the BSHG would consult the Joint Committee.
A document prepared by GIG on clinical governance from the patient's point
of view was received.
The RCPath had delayed providing general guidance on clinical governance
because of the variation between the disciplines, but this likely to be
available within the next year.
5 Nuffield Trust Genetics Scenario Project
The Chairman had attended the final workshop. The Nuffield Trust will be
launching the report in late spring.
6 Genetics knowledge/education of non-genetics professionals
A small survey by Dr Clayton-Smith's working group for the Joint Committee
had documented that a great deal of teaching was being provided for
obstetricians, midwives, paediatricians and, to a lesser extent, general
practitioners. The Joint Committee had agreed that more comprehensive
information was required but as they had learnt that the Public Health
Genetics Unit had already distributed a questionnaire they were anxious to
avoid duplication. Dr Zimmern confirmed that the Public Health Genetics Unit
was more concerned about the training of managers and health authorities.
However, he felt that there would be some information of interest to the Joint
Committee which they would be pleased to make available.
Dr Clayton-Smith said that the working group was now involved in
determining the core competencies required by different groups of medical
professionals.
Members were aware that various bodies were working in this area and wished
to avoid duplication. A widely held view outside the speciality was that
geneticists should be providing the education and therefore it would be
appropriate for the Joint Committee to continue with its investigations and
take a lead in formulating views. The Human Genetics Commission will be
looking at education and so the Chairman will convey the Joint Committee's
interest to the Commission.
7 Review of undergraduate medical training in genetics
A report was published by the RCP in 1990 on the Teaching of Genetics to
Medical Students. An update in 1997 but not published because of rapid changes
at that time in courses. The Chairman had asked Professor Haites to repeat the
survey for the Joint Committee.
8 Genetics proforma for antenatal care
It was noted that there was insufficient information about proformas
currently in use, and that, as such a wide range of professional groups were
involved, any proforma would have to be at a very basic level. Such a
development for antenatal clinic use may be possible as a proforma was being
used to enable patients with a family history of cancer to document their
family history.
9 Services for adults with inherited metabolic disorders
It was noted that metabolic medicine was not a separate specialty but both
the RCP and the RCPath had accepted that it was a sub-specialty. The RCPCH was
reviewing its stance but a firm decision had not yet been made. The Joint
Committee's working group was continuing with their enquiries.
10 Accreditation proposals for non-medical genetic counsellors
The membership of the Association of Genetic Nurses and Counsellors (AGNC)
had given its mandate to the accreditation proposals and AGNC was exploring
the issues to agree an implementation plan for the future.
11 DNA Services
(a) UK specialist genetic testing network for molecular diagnosis
The BSHG was anxious to introduce this scheme but felt it might be best
to wait for the Working Group on Laboratory Services for Genetics (chaired
by Professor Martin Bobrow) to report. It was thought that the BSHG could
act as referees for a pilot scheme.
Dr Brecker tabled a briefing paper on the establishment, terms of
reference, and ongoing work of this DH Working Group.
(b) DNA Services for rare single gene disorders
Discussion was deferred.
(c) Review of operation of OAT system
Dr Elles had not repeated the survey he had carried out for the first
quarter for the Joint Committee but had reviewed the service managed from
his own centre. The OAT agreement established on activity for 1997/98 was
not covering this year's activities predicting a shortfall in income by the
end of the year of about 30%. Dr Elles was asked to repeat the national
survey.
Members reported similar problems from genetics units around the country.
Dr Brecker would report these to Professor Martin Bobrow's group who wanted
to hear of such problems because it was not a consistent picture. Dr Zimmern
said that he had received various interpretations of how the system should
work and there needed to be definitive advice from DH/NHSE. The Joint
Committee's concerns were being relayed to DH/NHSE.
12 Human Genetics Commission/Department of Health/NHS Executive
The origin and role of the Human Genetics Commission were discussed. The
Commission would take on the work previously undertaken by the advisory
committees and would complete any projects already started. With regard to
work on genetic testing and the insurance industry, it was hoped that first
submissions from the insurance companies would have been received by April.
The importance now given to genetics within the Department of Health and by
Health Ministers was noted. There were two high level Departmental groups for
genetics, a steering and an implementation group. The NSHE was making a bid to
the Treasury for extra funding for the next three years which would include
genetics.
GIG wished to draw the Joint Committee's attention to the lack of GIG
representation in the membership of the Human Genetics Commission, despite
there being representatives from the British Association of Disabled People
and the Consumer Association. Members of GIG were surprised that no-one was
representing genetic disorders which they felt was a major omission. Members
of the Joint Committee supported their objection and the Chairman undertook to
convey this view.
13 Public Health Genetics Unit
The Unit had been set up with five years funding because of the gap in or
lack of information and knowledge within health authorities. The first task
was to set up a public health genetics network and website, and the Nuffield
project was part of the initial stage. The Unit was trying to obtain
information about commissioning services but so far the data were not good.
The Faculty of Public Health Medicine had sanctioned the seconding of
public health specialist registrars to regional genetics units for a period of
time during their last year of training. Professor Read pointed out that this
development was not generally known within the regional clinical genetics
units.
Summer school: work was progressing well in developing curricula for
managers, non-executive directors, public health doctors, general
practitioners, and they were now seeking funding for this.
Nuffield project: to look at the impact of genetics on health services and
potential for disease prevention over the next fifteen years. There had been
eight different stakeholder groups culminating in a workshop. Consideration
was being given to the following policy areas: national framework; education
and training strategy; policy for a scientific base; commercial considerations
and links with industry; information about confidentiality; issue of
affordability and keeping profession within the NHS. A copy would be submitted
to the Joint Committee but it would also be in the public domain.
14 Information from Genetics Interest Group
Documents from GIG on clinical governance and "Getting involved in
Research - a guide for individuals, families, and the groups that support
them" were discussed.
This year was GIG's tenth anniversary and they were planning to mark the
occasion in some way, possibly with a conference in Autumn.
15 Confidentiality and Consent
Several letters had been received from laboratory and clinical services
from which it was evident that there was wide variation in the way Trusts
dealt with the medical records of family members, results of genetic tests,
and consent procedures for storage of patient DNA.
Dr Douglas detailed issues affecting the confidentiality of medical
information, covering points relating to relevant law, accurate information,
rights of an individual versus duty of care to family, rights of the dead, and
DNA samples. Members agreed that a national policy was needed with regard to
the access of information and the use of samples/tissues for both living and
dead people, and that there would need to be a clear differentiation between
service and research requirements.
The Chairman commented that there seemed to be a need for a forum which
related specifically to genetics which would attempt to rationalise practices
and he felt that it would be desirable for the people who were working in the
field of genetics to put forward their views. He proposed that Dr Douglas
should head a working group of the Joint Committee and invited the submission
of names for consideration.
16 Matters referred from the Royal College of Physicians
16.1 "Consultant Physicians Working for Patients"
The RCP were to issue a revised version of this document. Changes had
been made to the job description for consultant clinical geneticists,
particularly to illustrate the mixture of clinical and teaching work.
16.2 Assessment of Consultant Numbers
The RCP had requested an assessment of the numbers of consultants
required in clinical genetics to achieve the standards in the above
document. Members discussed the clinical workload relative to population. It
was noted that approximately 30-40% of consultant posts in clinical genetics
combined academic with clinical work.
16.3 College Journal
The Joint Committee had been invited to submit articles on genetic issues
for publication in the Journal.
17 "Genetic Research and You": leaflet from Consumers for Ethics
in Research
The Joint Committee was concerned that the leaflet presented only a
negative viewpoint.
In discussion, it was noted that it was important for the speciality to
communicate with such authoring groups to offer advice and information and to
challenge inaccuracy or distortion. The current document appeared to have been
distributed already, and may have been referred to by some research
committees.
18 Workforce and Training
(a) RCPath SAC
Professor Malcolm was now the workforce representative, and sought the
Joint Committee's view on ADHs for trainees in Pathology. It was agreed that
this would depend on individual jobs and circumstances, and if there was no
on-call then there should be no ADHs.
(b) Clinical Genetics - SWAG specialty review 1999
Dr Hughes reported that SWAG recommendations were based on a rigid formula,
and a reduction of 8 NTN's had been planned for 2000/2001, and 14 further
reductions for 2001/02, with no reductions in 2002/03. This was against a
background of the specialty requiring consultant expansion.
The Chairman reported that he had been drawing the attention of appropriate
national authorities to the inconsistency of the SWAG formula reducing trainee
numbers at a time when planning procedures were identifying the need to
increase consultant clinical geneticist posts.
Dr Hughes wished to pass on her SWAG liaison role to Professor Mueller, and
she was thanked for her previous work.
(c) JCHMT SAC in Clinical Genetics
A new curriculum had been produced and approved.
Dr Brady raised four main concerns of SpRs: the definition of work covered
by clinical genetics; extending the training period whilst seeking a
consultant job; expansion of consultant numbers; the reduction in NTNs.
19 Publications received
Consultatation document from the Human Fertilisation Authority on
Pre-implantation Genetic Diagnosis.
20 Dates of future meetings
Wednesdays 24th May and 27th September 2000
