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
meeting of the Joint Committee on Medical Genetics was held at the Royal College
of Physicians on Wednesday 23rd May 2001 at 2.00 pm
Present
Professor Peter A Farndon (Chairman
RCP)
Professor Ian Gilmore (Registrar
RCP)
Professor
Neva Haites (BSHG Chairman)
Dr Stephen
Abbs (RCPath)
Dr Naomi Brecker
(NHSE Observer)
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
Robert Mueller (RCP)
Dr Heather Skirton
(BSHG)
Mrs Katie
Waters (BSHG)
Dr Paul Brennan
(RCP Trainees)
Mr Alistair Kent
(GIG)
Dr Virginia Warren
(FPHM
Ms Dianne
Kennard
Mrs Val Knight (Temporary RCP
Committee Administrator)
In attendance
Dr Amanda Collins
1
Apologies for absence/Welcome/Introduction
Apologies
for absence were received from Mr John Barber (BSHG), Dr Ruth Newbury-Ecob (RCPCH),
Mr Anthony Taylor (DH Observer), Professor Soothill (RCOG), Professor Mike
Connor (Scottish Colleges), Dr Ron Zimmern, Dr Julie Crow (RCPath Registrar), Dr
John Tolmie (RCP JCHMT SAC), Professor Robin Winter (BSHG), Professor Sue
Malcolm (RCPath).
Mrs
Katie Waters (who was standing in for Dr Lorraine Gaunt), Ms Diane Kennard (who
was standing in for Mr Anthony Taylor) and Dr Amanda Collins were welcomed.
The Chairman noted that Dr Newbury-Ecob was joining the Committee as the
Royal College of Paediatrics and Child Health representative, and thanked Dr
Jill Clayton-Smith for her work for the Committee. He also thanked Dr Dennis Cox who had written to say that he was retiring
from the Committee as the Royal College of General Practitioners nominee.
2 Minutes
The
minutes of the last meeting of 16th
January 2001 were accepted as a true record with the following corrections -
Item 4 – Genetics and Insurance Committee
First paragraph, second
sentence. “[Professor Donnai] pointed out that the Government had set up
GAIC…”
The second paragraph should
be replaced with “the first application had been to use results of tests for
Huntington’s disease for life insurance; GAIC had not accepted part of
the application which proposed using the number of CAG repeats as a predictive
indicator to determine the insurance premium”.
The third paragraph should
be replaced: “Professor Donnai gave her personal view that GAIC needed
more members and a broader expertise”.
Item 5e) Public Health
Genetics Network It was noted that Dr Heather Grimbaldeston’s name was
incorrectly given.
Item 9 National Specialised Service Definitions – Genetics A word missing from the first sentence was noticed –
“Principally to identify to commissioners what clinical activity within a
speciality is regarded as “specialised””.
3 Matters
Arising from the Minutes
3.1
Patents and genetic testing
Dr Brecker reported that there appeared to be no further developments since the last meeting of the Joint Committee, but that it was believed that Myriad was trying to identify a commercial partner in the United Kingdom. Dr Rowena Jeecock was hoping to present the latest situation to the next meeting of the National Genetics Commissioning Advisory Group in June. Dr Brecker undertook to ensure that any proposals would also be communicated to the Joint Committee.
Action:
Dr Brecker
3.2.
Genetics and Insurance
The House of Commons
Science and Technology Committee had published its report on genetics and
insurance. The report confirmed the continuation of the Genetics and
Insurance Committee (GAIC) whose composition and remit may be broadened. A
new chairman was awaiting approval by Ministers.
It was noted that the Human
Genetics Commission had urgently addressed public concerns over genetics and
insurance and published interim recommendations, which included a moratorium on
the use of genetic information for insurance. The recommendations are
available on the Commission’s website – http;//www.hgc.gov.uk.
3.3
Patients
Panel of the Human Genetics Commission
Dr Brecker confirmed that
the panel had not yet been set up, but the DH Genetics Unit was reviewing its
remit which may entail a role wider than advising solely the Human Genetics
Commission, and it may also be asked to address other issues.
Mr Kent asked that this
remained on the agenda.
Action: Chairman
4 Progress
reports of the work of the Joint Committee
4.1 National
Pregnancy Record
Unfortunately Professor
Soothill was unavoidably delayed due to travel difficulties, but the Chairman
reported that considerable progress was being made in the working group under
Professor Soothill’s chairmanship and a more detailed report would be
available shortly.
4.2
Consent
and Confidentiality Working Party
The Group under Dr Fiona Douglas’ chairmanship was currently collating the
responses to questionnaires completed by all the Regional Genetics Units, and
the Chairman thanked the genetics community for their detailed responses.
Dr Douglas was preparing the first draft of the report which it was hoped would
be available for consultation during the British Society for Human Genetics
meeting in September. The Committee was advised that this would be a major
document and useful for clinical practice. Professor Farndon explained
that he had already had talks with the RCP to discuss having this published.
4.3
Genetics
Education
a)
Undergraduate
medical education
Professor Haites was planning to convene a meeting
of representatives from medical schools and representatives from regional
genetics centres to discuss the basis of the national undergraduate curriculum
in medical genetics in the autumn of this year.
b) Postgraduate training course in genetics
The Chairman confirmed that
it was planned to hold a series of meetings with specialist registrars to
determine what their educational needs were, and then to hold similar meetings
with trainers from the Regional Clinical Genetics Units to determine the form
and content of the proposed course. There appeared to be considerable
support for a modular course, beginning with “basic genetics” with further
specialised modules led by the country’s recognised experts on those topics.
Whilst it had originally been intended that such a modular course would be for
the specialist registrars in clinical genetics, the Joint Committee requested
that the modular structure of the course be developed to allow all professionals
in genetics to benefit from its opportunities.
The Chairman confirmed that
other medical specialties were also interested in modules dealing with the
genetics of their specialties.
The Chairman confirmed that
it was intended that the structure and contents of the course would be informed
by and based upon the identified educational needs.
4.4
Guidance for Ethical Committees on Genetics
The Chairman reported that
Dr Cyril Chapman’s working group expected to have the final draft completed
within the next few weeks, and circulated to Joint Committee members. It
is hoped that the document will be adopted by the Central Office for Research
Ethics Committees and be helpful to local research ethics committees.
5
Secretary of State’s Speech
The Secretary of State’s Speech on Genetics, previously circulated to all members, was discussed in detail.
The Chairman of the Joint Committee had been
invited to attend the Secretary of State’s Speech and reviewed some of its
major points.
The Chairman welcomed the speech on behalf of the
genetics community, and commented that he felt there were parts of the speech
for which existing mechanisms would ensure that the plans were put into
practice. Other parts of the speech
needed assistance from the genetics community and commissioners to develop new
mechanisms – training of genetic counsellors, for instance. Thirdly, there were aspects of the speech which appeared to be statements
of intent and detailed work had not yet been undertaken on them.
Dr Hughes asked about the implementation of the
speech in Scotland, Wales and Northern Ireland. Dr Brecker confirmed that the funding announced in the speech
was mainly for England, but it was hoped that the overall plan of the speech, suggesting a framework for clinical
services, would be adopted by the national assemblies. The Secretary of State had outlined proposed service developments, but
the commissioning would be through the existing local systems. The National Genetics Commissioning Advisory Group (GENCAG) would play a
key role in co-ordinating developments throughout the United Kingdom.
Mrs Fitchett asked for clarification of the Rare
Genetic Testing Network, and Dr Brecker confirmed that Dr Robert Elles and
herself had been asked by GENCAG to prepare a document on possible structures
for its next meeting.
Dr Brecker confirmed that the mechanisms for
bidding for the National Reference Laboratories were still being developed.
Members from all genetics specialties on the Joint Committee were concerned about the mechanism for increasing the number of training posts for genetic laboratory scientists. There was concern that an increased number of training posts would not be available under current planning systems until September 2002, and there was real concern that this would not allow adequate numbers of scientists to be trained ready for the developments envisaged in the Secretary of State’s Speech. It was agreed that the Association of Clinical Cytogeneticists and the Clinical Molecular Genetics Society would contact the chief scientist, Dr Peter Greenaway to make proposals for increased numbers of training posts as soon as possible, and the Chairman of the Joint Committee would also write to confirm that this was a concern shared by all professional groups in genetics.
Action: Chairman
Urgent work also needed to be undertaken to ensure
that adequate numbers of genetic counsellors could be trained. Dr Brecker confirmed that she was convening a meeting as soon as possible
to discuss training requirements and training capacity for genetic counsellors.
Dr Brecker confirmed that the DH Genetics Unit was pleased to receive
expressions of interest to serve on this group.
Professor Kalsheker raised concerns about the paucity of training posts in biochemical genetics. After discussion, it was agreed that Professor Kalsheker would write to the Royal College of Pathologists Common Pathway Training Group to discuss this matter further.
Action: Prof Kalsheker
6
National Genetics Commissioning Advisory Group
Members of the Joint Committee who had been
present at the first meeting of the Genetics Commissioning Advisory Group
reported that there had been agreement with the commissioners on priority areas,
the most urgent of which is the setting up of the genetic testing network.
The next meeting is being held on the 25 June.
7 National
Specialised Service Definitions - Genetics
a)
Definition
Following extensive consultation, it was likely
that the specialised definition for genetics would be finalised at a meeting in
early June.
b)
Discussion and implementation of proposed contracting currencies
The Chairman wished to record his thanks formally
to the professional groups who had produced the proposed contracting currencies
for molecular genetics, cytogenetics and clinical genetics. The Chairman invited discussion of the documents particularly with regard
to the long term feasibility and resources required to provide the information.
After discussion, it was felt it would be helpful
if the cytogenetics contacting currencies could be redrafted to remove the
capital component, so that they were on the same basis as the molecular genetics
currencies. The Joint Committee
then identified that capital equipment procurement was a cause of major concern
as different policies around the country were leading to inequities between
laboratories. The Joint Committee
recommended that this should be a topic placed before GENCAG, and the Chair
agreed to write to Sir John Pattison to ask that this be placed on the agenda.
Mr Kent pointed out that the contracting currencies applied to only one aspect of regional genetics centres; he was concerned that education and training may not be appreciated to be integral components of the work of the services. The Chair agreed to write to Mrs Barbara Gill, responsible for the specialised services definitions to confirm that the education and training components would be commissioned separately from the workload in the contracted currencies.
Action: Chairman
The Chairman confirmed that he had written to
colleagues in biochemical genetics at the request of the specialised service
definition group to ask them to prepare a similar document on contracting
currencies.
The Committee recognised that the contracting
currency documents were draft documents likely to undergo considerable change.
It was agreed that the professional groups would each ask several units
to undertake a trial of the contracting currencies and report back.
The Chairman confirmed that the specialised
service definition group regarded the definitions and contacting currencies to
be working documents which would require amendment in the light of experience.
He would ensure that the contracting currencies were represented as work
in progress rather than schemes for adoption.
Dr Collins tabled a “simplified” scheme for
contracting currencies in clinical genetics which was felt by the Committee to
be more easily workable.
8 Training
needs of Genetic Counsellors
a) Training Posts in Regional Genetic
Centres
Dr Heather Skirton reported on the training needs
of genetic counsellors, which included –
An increased number of practical experiential placements for MSc students.
Funding for travel to placements.
Bursaries for genetic counselling students (similar to those for nursing students).
Funding for genetic counsellor training posts for those with a nursing background.
Resources to allow
senior practitioners to devote time to training.
Dr Brecker commented that as well as the Genetics
Unit holding an urgent meeting about training requirements and training capacity
for genetic counsellors, it was important to work in parallel with the National
Genetics Commissioning Advisory Group.
Professor Mueller spoke for the entire Joint Committee in saying that it was an urgent priority to devise a scheme to ensure the necessary numbers of genetic counsellors to enable the future development of genetic services. The Committee asked the Chairman to write to Professor Sir John Pattison to stress the importance of this work.
Action: Chairman
9
National Electronic Library for Health
Professor Haites reported that it was being
proposed that a genetics branch library be added to the National Electronic
Library for Health. This was likely
to be a simple “front end” for health care professionals, with links to
other levels of the library giving information on particular conditions. It was
being proposed that the genetics part of the library would concentrate on basic
genetics information. The British
Society for Human Genetics Council
were supportive of the initiative, but, like the Joint Committee were concerned
that sufficient funds would be available in the future to complete and maintain
the library.
As a first step, Professor Haites was convening a workshop to identify in more detail suitable content.
10 Public Health Genetics Unit
The Public Health Genetics Unit had organised
workshops on genetics and health economics and cardiovascular disorders. Reports would be available soon.
Dr Warren raised Dr Zimmern’s concern (in his
absence) about the future commissioning of genetics screening programmes
(including those for Down syndrome, the haemoglobinopathies and neonatal
metabolic disorders). The Joint
Committee agreed that there could be concern about inequity of access and the
relationship of these services with the tertiary metabolic disease laboratories
if they were to be commissioned at a local rather than national level. This issue is being addressed as part of the specialised genetics service
definition.
11 Human Genetics
Commission/Department of Health
11.1
Dr Brecker reported on the one day meeting held by the Commission to
inform its document on Genetics and Insurance.
Joint work is presently being undertaken with the
Human Fertilisation and Embryology Authority on preimplantation genetic
diagnosis.
11.2 Babies conceived by intracytoplasmic sperm injection.
Professor Donnai reported that she had alerted the
Chief Medical Officer to the reports of babies conceived by intra cytoplasmic
sperm injection having problems which could be related to abnormal methylation.
The Chief Medical Officer asked the HFEA to consider this and they have
taken expert advice. It is hoped
that a detailed follow up study of children born in this country following ICSI
will be instituted. Professor
Donnai asked that this be kept on the agenda.
12
National Screening Committee
Professor Haites reported on three workshops held
by the National Screening Committee on breast cancer, colon cancer and factor V
Leiden deficiency. The
conclusion of each was that there is no evidence to support genetic screening
for the population, but genetic testing should be available for particular sub
groups likely to be at highest risk where surveillance would be helpful.
Professor Haites commented that Health Technology Assessment funding had been requested for assessment.
13 Report from United Kingdom
Haemophilia Centres Directors Organisation
Dr Fryer, Joint Committee representative on the
UKHCDO Advisory Committee, reported
13.1 Following assimilation of responses, the document on gene therapy for
haemophilia would be considered by the UKHCDO Advisory Committee early in June.
13.2 A consent form for DNA testing and storage has been drawn up with an
information leaflet to accompany it. These will be considered by the UKHCDO Advisory Committee
early in June. Joint Committee
members asked Dr Fryer to bring to UKHCDO’s attention to Dr Fiona Douglas’s
Working Party on Consent and Confidentiality, and asked that a copy of the
UKHCDO document be forwarded to Dr Douglas. Action: Dr Fryer
13.3 A document on testing in childhood has been produced and is being
considered by the UKHCDO Advisory Committee in June.
13.4 A consultative letter has been sent by UKHCDO to laboratories providing
molecular testing to propose having a few laboratories (6 or 7) across the
country offering testing with a set of agreed standards.
13.5 The role of genetic associates, genetic registers and the relationship
with clinical genetic services would be discussed at a future meeting.
14 Royal College of Physicians
a)
Continuing Professional
Development
The Chairman reported
that the Royal College of Physicians Continuing Professional Development
Advisory Committee was awaiting the decision of the General Medical Council on
the precise form of revalidation. The
CPD Advisory Committee had written to the Presidents of the three Medical Royal
Colleges to ask that a CPD scheme be made compulsory for physicians.
In the meantime, the
CPD Advisory Committee recommended that specialties prepare to develop
assessment tools, in a form felt to be most appropriate for the characteristics
of the speciality.
The Joint Committee agreed to reconsider this when more information was available.
Several Physician
members of the Joint Committee had found it extremely difficult to access and
use the on-line version of the Royal College’s recording scheme for CPD.
Those trying to use the paper based system, had, however, found this even
more problematic. The Chairman advised the members to contact the CPD
department.
b) Specification of Requirements for
clinical information systems in support of secondary care
The Joint Committee discussed and supported this document which aims to
ensure that all health care professionals working in hospital practice have
access to relevant clinical information necessary to support patients in their
care, to have on-line access and to provide a basic uniformity of clinical
systems.
There was debate about the confidentiality of some genetic information,
as in many units it was stored as family based files. There was special concern about the recording of predictive information
on computer systems and the Joint Committee felt that this was not appropriate,
especially if information on the system could be accessed, as recommended in the
specification of requirements, by other departments within the hospital, and
perhaps also transferred to organisations out with the hospital.
Dr Warren wondered whether the specification would also apply to cancer registries. Professor Haites reported that the Scottish Executive Health Department had set up a project (ECCI) to ensure that systems currently in use in different Trusts were able to communicate with each other and provide a core data set. The Chairman would write to the Academy of Colleges Information Group supporting the document but raising the particular features required of a genetics information system.
Action:
Chairman
15
Manpower and Training
a)
RCPath SAC
The Committee has not met since the last Joint Committee meeting. Professor Neva Haites reported that the Manpower Committee of the Royal
College of Pathologists discussed the 3 registrar posts in genetic laboratory
medicine as they had been asked whether additional posts were required to
complement the increased number of clinical registrar posts. The Manpower Committee believed that 3 training posts for clinical
laboratory staff were sufficient.
b)
Numbers of Specialist Registrars
Professor Mueller confirmed that 9 new specialist registrar posts
would be released this year, and that Professor Michael Tunbridge, Lead Dean,
had suggested that they are placed in accordance with the weighted capitation
index. Regional Specialities
advisers would receive details shortly. It
is expected that an additional 21 posts will be released over the next two
years.
c)
JCHMT SAC in Clinical Genetics
Dr Tolmie had confirmed
that by letter the curriculum for specialist registrar training in clinical
genetics had been fully updated. As
requested by the JCHMT, methods of assessment had been added to the statements
of all training requirements.
The JCHMT has not
progressed further with its assessment tools, but the assessment tools developed
by the SAC and a group of speciality advisers is currently on trial with
specialist registrars. Dr Brennan
reported that some trainees could not see the need for such a document whilst
others felt the document to offer a reasonable method of assessment. The Chairman regretted that the reasoning which had led to the particular
form of the assessment document appears not to have been explained as fully as
it might to some groups of registrars. The
assessment document would be revised in the light of experience.
16 Any other business
a) Consultant Clinical Geneticists had asked the British Society for Human Genetics to ask the Joint Committee to write to the Royal College of Obstetricians about their concerns about the standards of reports from some private laboratories. After some discussion it was agreed that the Chairman would consult with Professor Haites Chairman of the British Society for Human Genetics and then discuss the matter with Professor Peter Soothill.
Action: Prof Haites
b) Disabled Peoples International
Europe Position Statement on Bioethics and Human Rights: Disabled speak on the new genetics.
It was agreed that the Chairman would try to obtain copies of this
document and circulate them to Joint Committee members. It was felt that opening a dialogue with DPIE on some of the perspectives
expressed should be considered. The
Joint Committee felt that this may be best undertaken by the Genetic Interest
Group and the British Society for Human Genetics, and Mr Kent and Professor
Haites would discuss this further. Action: Mr Kent, Prof Haites
c) UK population Biomedical samples
collection (the Wellcome Trust and Medical Research Council).
The Chairman reported that the Wellcome Trust and Medical Research Council are discussing the possible establishment of a DNA collection from 500,000 randomly selected volunteers aged 45-64 and were seeking views from people within the NHS and related fields about the project, its proposed management and the kind of impact it might have on local and regional NHS services. The Chairman proposed that a presentation about the project may be appropriate for a future Joint Committee meeting.
17
Date and Time of Next Meeting
Thursday 20th September 2001 at 2.00 pm, Royal College of Physicians.
Wednesday 9 January 2002 at 2.00 pm