Joint Committee on Medical Genetics by eot15664

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									                              Joint Committee on Medical Genetics
The Royal College of Physicians     The British Society for Human Genetics    The Royal College of Pathologists


RCPath, 2 Carlton House Terrace, London, SW1Y 5AF

     A meeting of the Joint Committee on Medical Genetics was held at the Department of Molecular &
                   Medical Genetics, Guy‟s Hospital on Wednesday, 31st October 2007.



Present:            Dr John Crolla                        JCMG Chair, RCPath
                    Ms Amanda Barry                       BSHG
                    Dr Jim Bonham                         RCPath, MetBioNet
                    Dr Rodney Burnham                     (RCP Registrar) (am only)
                    Dr Hilary Burton                      Observer, Public Health Genetics Foundation
                    Dr Sally Davies                       RCP
                    Dr Rob Elles                          BSHG, Chairman
                    Professor Peter Farndon               National Genetics Education and Development
                                                          Centre),
                    Dr Alan Fryer                         BSHG
                    Dr Hilary Harris                      RCGP
                    Ms Diane Paine                        Observer, DoH
                    Dr Susan Holder                       RCP, workforce representative
                    Dr Anneke Lucassen                    BSHG
                    Dr Tessa Homfray                      RCP
                    Dr Ruth Newbury-Ecob                  RCPCH
                    Mrs Gail Norbury                      RCPath
                    Dr Leema Robert                       RCP, trainee representative
                    Ms Kim Smith                          BSHG
                    Dr Graham Taylor                      BSHG
                    Dr Virginia Warren                    Faculty of Public Health


In attendance                 Dr Anna Middleton           to give a presentation on genetic services for the
Deaf


1.                  Apologies for absence

NOTED:            apologies were received from Professor Ian Gilmore (RCP, President), , Dr Trevor Cole
(RCP), Dr Teresa Davies (RCPath), Prof. Paola Domizio (RCPath, Registrar), Mrs Hilary Grandey (RCP,
Patient and Carers Network), Mr Alastair Kent, (GIG / RCP Patient and Carers Network), Dr Sian Morgan
(RCPath Trainee representative), Professor Adrian Newland (RCPath President), Professor Peter Soothill
RCOG, Dr Fiona Stewart (RCP), Dr Allison Streetly (NSC, Observer),


Professor Peter Farndon and Ms Diane Paine were welcomed to the meeting. Professor Farndon
represented the National Genetics Education Centre and Ms Paine represented the Department of Health.
Dr Ruth-Newbury-Ecob was welcomed back to the JCMG to deputise for the RCPCH representative, while
the RCPCH nominated someone to fill the vacancy on a permanent basis.




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2.   To confirm and sign the minutes for the meeting held on 25 th January 2007

     NOTED:            a number of changes to the minutes of the previous meeting held on
     15th May 2007. Dr Bonham noted that for section 20, relating to the Foundation for
     Genetics and Population Health, the action point should be listed for Dr Burton not Dr
     Bonham and the last sentence of the paragraph should also refer to Dr Burton and not Dr
     Bonham. Dr Virginia Warren highlighted an error in item 15, page 8 on the bottom line:
     patients should be „patents‟ so that it reads as follows, „ a query that had been raised at
     the previous JCMG meeting about concerns amongst the Genetics community regarding
     the process for negotiating genes patents.‟


3.   Matters arising on the Minutes:

     i)       MetBioNet – reply from Mark Bale

     NOTED:             a copy of the a letter from Dr Mark Bales, Deputy Director of Scientific
     Development and Bioethics, in response to a letter from the JCMG Chairman regarding
     funding for HST posts in biochemical genetics. Unfortunately, the Department of Health
     was not in a position to provide further funds. Dr Bales suggested that the normal
     mechanisms for NHS workforce planning be utilised for addressing the problem.

     Dr Bale's letter noted that the decision to use funding from the genetics white paper to
     fund 8 HST posts in metabolic biochemistry and trainer support had been agreed as a
     'one-off' measure for a period of 3 years because of the shortage in HST posts in
     metabolic biochemistry. These arrangements were coming to an end. JCMG members
     expressed their concerns about the decision and asked whether the Department of Health
     would be willing to reconsider its decisions particularly in relation to the continuation of
     support for trainers.

     AGREED:              Ms Diane Paine agreed, in response to the above concerns, to look at
     this issue again, in particular the provision of funding for the now discontinued HST
     trainer posts, but was unable to give a firm commitment at this stage. Dr Bonham would
     write to Ms Paine with details of how the trainer posts might be continued, though he
     stressed the importance of avoiding any undue delays as the trainer post funding had
     ended in July 2007. Dr Fryer highlighted the role GENCAG could play in assisting with
     this as a result of its commissioning work.

     Action            Ms Paine, Dr Bonham


     ii)      RCP College Lectureships 2009

     NOTED:           that the RCP was happy to receive the JCMG‟s nomination for
     Professor Veronica Van Heyingen to deliver a College lecture in 2009.


     iii)     Optimal BRCA testing – reply to Dr Ros Eeles

     NOTED:            a copy of a letter from Dr Crolla on behalf of the Joint Committee on
     Medical Genetics, regarding the committee‟s views on the optimal BRCA test that should
     be offered and reasonable pricing structure. The letter communicated the JCMG‟s view
     that there was currently insufficient published data by which to make a definitive
     statement about the comparative sensitivity of the testing scenarios and in particular by
     which these approaches could be objectively compared. The letter stressed the
     importance of clinical judgement when ultimately deciding on the best tests option in any



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     given situation. Dr Eeles had thanked the JCMG for its response.

     iv)     Guidelines Clearing House

     NOTED:           No further progress had been made with this initiative to date. Dr Fryer
     would consider how to this could be taken forward and will report back to the JCMG.

     Action: Dr Fryer



     4.      Report from the Genetics Unit, Department of Health

     NOTED:            verbal and written reports from Ms Diana Paine regarding NHS
     Genetics and White Paper commitments. Work was continuing on the review of the
     genetics white paper and a report was due to be published shortly. Following a two stage
     bidding process open to all higher education institutions in the UK, the Department of
     Health had signed a contract with the University of Liverpool to host the
     Pharmacogenetics Chair from 1st September for a period of five years. Professor Munir
     Pirmohammed was appointed to the NHS Chair of Pharmacogenetics.

     Ms Diana Paine confirmed that not all the funding had been spent by the Genetics White
     Paper commitment to fund up to 90 grade A trainees in laboratory genetics had not been
     fully delivered although when the current posts had gone through they would more than
     have met the financial commitment ('up to £3.5 million') as the posts were being funded
     for 4 years. Further decisions on funding would be dependent on both future available
     funds and the implications of implementation of the modernisation of pre-registration
     training for healthcare scientists.

     The new steering group of the National Genetics Reference Laboratories was due to have
     its first meeting. The steering group was to be chaired by Professor Martin Bobrow.

     Ms Diana Paine had been confirmed in the post of Genetics Unit team leader while Dr
     Alison Hill would continue to work in the team on a part time basis as senior medical
     adviser. An appointment was due to be to made to fill Ms Paine's former position in the
     team in the next few months, bringing the NHS genetics team back up to full strength.
     [N.B. post meeting update: Dr Neil Ebenzer has joined the DH NHS genetics team with
     effect from 3 December 2007]


5.   National Genetic Reference Laboratories

     NOTED:           a written report from the National Genetics Reference Laboratories
     based in Wessex and Manchester, and a copy of the Diagnostic Mutation Database
     (DMUDB) Newsletter Autumn 2007, produced by the NGRL Manchester.

     It was reported that the Department of Health NGRL steering group was due to meet for
     the first time on 19th November to consider the NGRL‟s new programme. Dr Ruth
     Newbury-Ecob asked whether input was being sought from the other mainstream medical
     specialties. Ms Paine noted that they were keen to keep the membership of the
     committee as manageable as possible but would seek, in due course, to co-opt members
     from other areas.

     JCMG members highlighted the importance of making a strategic decision regarding new
     technologies, in particular taking on the challenge of embedding new technologies in a
     service delivery environment. Dr Bonham highlighted the useful information technology



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     links being made in the piloting of the STALIMS system. Dr Graham Taylor noted the
     considerable scope for partnership in the work being performed by Cancer UK on new
     technologies.


6.   Clinical Advisory Panel on the 18 week pathway

     NOTED:           Dr Rodney Burnham gave details of the work being done by the
     Clinical Advisory Panel on the 18-week pathway. The panel had been nominated by the
     AoMRC. Dr Burnham highlighted the close links between the 18 week pathway and
     Payment by Result initiatives.

     Dr Burnham gave details of the work being done to consider the likely impact that the
     increased number of medical trainee doctors and the increased proportion of female
     doctors was likely to have on the training process and future workforce needs. How
     services could be managed in light of these changes, especially the working time
     directive, was a key issue. Dr Burnham would address this at a meeting due to be held on
     20th November 2007 and was keen to receive feedback from the specialties and their
     representatives.


7.   Genetics Commissioning Advisory Group

     i)       Update from GENCAG

     NOTED:            a written report from Michael Wright, Clinical Genetics Society (CGS)
     representative on GENCAG, on the key issues discussed at the meeting of the GENCAG
     held on 9th October 2007. These included the responses to this year‟s quality marker
     survey, lessons from the external evaluation of the service development project, the 18
     week guidance, DNA testing for Hypertrophic Cardiomyopathy and Test Turn Round
     Times.


     ii)      UK Genetic Testing Network

     NOTED:          a copy of a progress report on UKGTN initiatives and the progress
     achieved between March 2007 and September 2007.

     JCMG members were circulated copies of the dossiers that had been evaluated by the
     genes dossier working group from September 2006 to August 2007. Those that had been
     evaluated as meeting the criteria in the UKGTN approved list of tests were recommended
     for acceptance by GENCAG. These tests would be considered by commissioners at the
     local level to determine whether funding would be made available for them. JCMG
     members highlighted the thorough nature of the criteria.

     It was reported that a pilot collection of reporting times data for the period January 2007
     to March 2007 had been requested from member laboratories. The Department of Health
     had asked the UKGTN Project Team to coordinate the collection of reporting times data
     for the year April 2007 to March 2008. The Department of Health was of the view that
     targets for tests turnaround times had been helpful but they needed to be reviewed to
     ensure greater sensitivity to clinical need and ensure that resources were used in the most
     appropriate way.

     Details were given of a paper outlining an expanded framework for Genetics Testing
     Evaluation beyond ACCE. It was could be accessed on the PHGU website at:




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                       http://www.cdc..gov/genomics/gtesting/ACCE/fbr.htm

     The UKGTN was looking at a possible framework for prioritising tests that had already
     been evaluated for clinical utility through the Gene Dossier process and had met the
     criteria. A small working group had been had been established to develop and pilot the
     framework.

     With regards to the UKGTN National Tariff Exercise, it was noted that no further expert
     working groups were being put forward and as a consequence genetics would need to
     feed into a group that was already established. It had been suggested that the Paediatrics
     EWG might be the most appropriate, as genetics sees adults and is not limited to
     paediatrics. Professor Farndon expressed his thanks to the laboratories for their input.


8.   Genetics Services for the Deaf: a presentation by Anna Middleton

     NOTED:            a presentation by Anna Middleton, PI and consultant research genetic
     counsellor from Cardiff, concerning the DH funded research project conducted into Deaf
     individuals‟ understanding and perceptions of genetics and their needs from the genetics
     services.

     Dr Middleton was keen to gain feedback from the JCMG about how the results of the
     ongoing research project, in the form of a summary report, may be disseminated to the
     wider genetics community so that they were fully aware of the project‟s findings and
     recommendations. The findings of the project will be aimed at raising awareness and
     access to the full range of genetics services amongst both the genetics community as well
     as the “culturally deaf” i.e. those deaf individuals who live within a non-hearing society
     who have considerable pride in their sign language and life style. The perception of many
     of the culturally deaf is that genetics is only concerned with the genetics of deafness and
     so the real challenge of the project was how to make the full range of genetics services
     available to all deaf individuals.

     The summary report would go out to each genetics department. Dr Middleton was
     grateful for the JCMG‟s views and feedback on the report.

     AGREED:           that it was important to involve audiologists in the project as they are
     an important group for whom an increased awareness in genetics is also required. The
     summary report of the findings would be forwarded to the JCMG for its feedback and
     views. The findings would be circulated to the CGS, the AGNC and the BSHG.
     Professor Farndon noted that the recommendations relating to the project could be
     incorporated into the 9 competencies of the NGEDC and included on the NGEDC
     website. Professor Farndon would liaise with Dr Middleton. Dr Middleton was thanked
     for coming to the meeting and giving the presentation. The JCMG looked forward to
     receiving a copy of the project report and the opportunity to comment on it.

     Action            Committee Administrator, Professor Farndon


9.   Medical Specialties Board

     NOTED:             a written report from Dr Tessa Homfray regarding the key issues
     discussed at the last meeting of the Medical Specialist Board on 21 st June 2007. A new
     system for nominations for the Clinical Excellence Awards had been developed. Details
     were given of a new web portal called „Health Choices‟ intended to bring together health
     information sources for patients and the public at a national level. The online healthcare
     map of medicine healthcare support tool, providing pathways on clinical management



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      and as core knowledge, was discussed. All information booklet on revalidation was
      given to members of the Board and has since then been distributed to all physicians. Dr
      Fryer was acting as the lead for this project in Genetics. With regards to demand
      management, it was noted that GPsSI had been excluded from the choice agenda.


10.   Educational Issues

      i)       NHS Genetics Education and Development Centre

      NOTED:            a copy of a written report regarding the activities of the NHS Genetics
      Education and Development Centre and a verbal report from Professor Farndon. It was
      reported that good progress was being made in putting together training pathways for
      developing and supporting learning outcomes in genetics and would be posted onto the
      website.

      Professor Farndon highlighted the success of the „Talking Stories, Understanding Real
      Life Genetics‟ initiative, an education website available online with experiences
      illustrating what it is like to have, be at risk of, live with and support those affected by
      genetic conditions. It helped promote understanding and raise awareness of genetics
      education initiatives.

      Professor Farndon drew reference to research findings indicating that patients preferred
      to receive genetic information as part of specialist advice rather than as part of general
      medical advice.


      ii)      Report from Genetics Counsellor Training Panel

      NOTED:           Mrs Barry noted that all posts for the second phase had been appointed.
      All except one genetics counsellor had gained substantial posts. A third phase was likely
      for a small number of posts.

      The next meeting of the Training Panel was due to be held soon.


11.   National Metabolic Biochemistry Network

      NOTED:             a written and verbal update on current activities of the National
      Metabolic Biochemistry (Biochemical Genetics) Network. Dr Bonham noted that active
      consideration was being given to the development of expended newborn screening by
      Tandem Mass Spectrometry to include a wider rage of disorders, including: GA1,
      MSUD, tyrosinaemia, homocystinuria, IVA and others. An expert group had been
      established following a meeting on 21st September 2007 organised jointly by MetBioNet
      and UKNSLN to identify candidate disorders. The group and meeting report would be
      available to the JCMG by mid-November. It was hoped that these plans would lead to
      the introduction of pilot project in 2008 / 2009.

      There was continued close working with the Newborn Screening Programme Centre over
      the roll-out of MCAD Screening nationally and over the plans to develop an over-arching
      quality strategy.

      Dr Bonham reported that no agreement had been reached about the geographical
      arrangement of the possible formation of regional IMD (inherited metabolic diseases)
      networks. Instead they had agreed to the formation of a multidisciplinary National Board
      with strong commissioner input.



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      AGREED:          that although the decision was a welcome advance that would lead to
      cooperation between different networks, committee members expressed disappointment
      that no agreement had been forthcoming about the geographical distribution of these
      networks, which would have introduced greater coordination to the services.

      Dr Crolla agreed to write to Julia Stallibrass to voice these concerns, liasing with Dr
      Burton and Dr Bonham as required.

      Action            Dr Crolla


12.   Workforce and Training

      i)       RCPath SAC

      NOTED:              Ms Smith noted that the RCPath would be seeking the Clinical
      Molecular Genetics Society (CMGS) and the Association of Clinical Geneticists (ACC)
      for their assistance in producing a syllabus and learning outcomes document for genetics
      clinical scientists as part of the work of the joint DoH / RCPath and IBMS Life Sciences
      Task Force.

      ii)      JCHMT SAC in Clinical Genetics

      NOTED:            a written and verbal report by Dr Sally Davies regarding the key issues
      discussed by the JCHMT SAC in Clinical Genetics.

      Dr Davies noted that the PMETB had approved the curriculum for clinical Genetics and
      was available on the RCP and PMETB websites. The assessment methods for the
      competences identified had also been approved and would be put on the PMETB
      websites. The assessment methods included Mini CEX, Care-Based discussions,
      MultiSoucrce feedback and patient satisfaction questionnaire.

      The Walport posts were proving difficult to find and / or fill. The SAC was currently
      receiving the number of approvals generated, posts appointed to and posts unfilled.

      Following MTAS in 2007 there had been a decision made by the MMC programme based
      board in England that recruitment of vacant posts for 2008 would be undertaken on a
      local deanery basis using deanery specialty specific forms. Applicants would be able to
      apply for as many posts in as many deaneries as they wish. It was likely that there would
      be a large excess of doctors applying for posts.


      Dr Davies gave details of the main elements of the Tooke Report. The opportunity to
      uncouple CMT from specialty training was welcomed but there was a general reluctance
      to scrap Foundation. The consultation on the report would close on 20 th November 2007.
      The SAC was submitting a response.


      iii)     workforce in clinical genetics

      NOTED:             Dr Holder gave details of a meeting held on 17th October 2007 to look
      at the „Physicians Workforce of the Future‟. The aim was to discuss the problem of the
      oversupply of doctors in England with the resultant likelihood of a considerable national
      unemployment. A report to the DoH was planned detailing the problem and offering
      potential solutions. The meeting had been held to consider the possible impact that such



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      solutions may have on the way care was delivered in the future.

      The main thrust of the report was to be a recommendation of a 50 per cent reduction in
      the number of medical students and the development of an essentially consultant
      delivered service in the future, with the trainees members being gradually reduced to
      about 25% of the current level and trainees being supernumerary.

      The impact of the recommendations on clinical genetics was likely to be less marked as
      the number of junior staff was minimal and specialty training usually commenced at a
      relatively senior grade. Dr Holder felt the potential expansion of consultant members
      (and reduction of trainees) was very positive and may well suit clinical genetics, with
      efficiency gains from a specialist-led services.

      The final report was awaited.


      iv)      Workforce in clinical laboratory scientists

      NOTED:            an update on training posts in clinical laboratory scientists.

      For clinical molecular genetics, 38 molecular trainees had started in training posts since
      October 2006 (of which 20 had started in 2007). 12 posts had been white paper funded.
      One post had been withdrawn.

      Fewer centres appeared to be offering training in the clinical scientists handbook for 2008
      / 09 start.

      Dr Sarah Warburton was continuing in post as National Trainer for Molecular Genetics
      for 3 years. The two regional trainers David Cockburn and Lyndsey Bentley were unable
      to continue due to other professional responsibilities.

      The 2006 intake for Clinical Cytognetics was 32 trainees, of which 5 were non-
      supernumerary, 11 were local-funded supernumerary, 13 national funded (white paper /
      Scotland), 3 unknown funding source.

      For the 2007 intake, 18 trainers had started in posts, of which none were supernumerary,
      8 were national funded (white paper / Scotland / Wales), 4 not known.

      They were still relying excessively on the provision of national funding.

      The National Training Co-ordinator, Gavin Cuthbert and administrative support plan to
      continue in their present roles for the foreseeable future.


13.   Chief Scientific Officer’s Summit on developing the HCS Professions

      NOTED:                       details from Ms Kim Smith regarding the proposals put
      forward by Professor Sue Hill at the Chief Scientific Officer's Summit, on developing a
      single structure for training and career progression for all NHS healthcare scientists.

      The proposals focussed on 3 years of supernumerary postgraduate training, consisting of
      two years of core general training followed by a year of specialty training. On
      completion of this training, the Healthcare Scientists would be awarded a BMed Sci
      qualification and be eligible for HPC registration. They would then eligible to compete
      for funding to do higher specialist training in order to be fast-tracked for the MRCPath.




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      Following higher specialist training, healthcare scientists would be able to apply for
      consultant posts.

      The aim of the proposed changes were to create a single, defined structure of training and
      career development for clinical scientists of all specialties and backgrounds. All HCS
      would be expected to go through this structure.

      Ms Smith noted that the draft proposals were going to be finalised at a meeting on 11 th
      December 2007. The meeting would be chaired by Professor Hill and attended by a
      number of selected advisors, including Dr John Old, RCPath Vice President and chair of
      the RCPath Genetics SAC. A formal consultation document regarding the proposals
      were likely to be published in early 2008

      JCMG members expressed concerns about the amount of genetics training to be covered
      in the first two years of the proposed postgraduate training programme. There was a risk
      that genetics would not feature in the generalist training of the first two years. Concerns
      were also expressed about reducing the training from 4 years, which was widely viewed
      as the gold standard in such training, to 3 years, which might see key elements of training
      not being included. There was also a lack of clarity about the amount of research
      experience required.

      Specialist societies were encouraged to submit written reports and feedback to the
      proposals in order to make the above concerns known.

      AGREED:           that it would be advisable to consider these proposals and their likely
      impact. It was agreed to include this as an agenda item for the next JCMG meeting so
      that any decisions made at the meeting on 11th December 2007 could be considered. Dr
      John Old would be attending the meeting on 11 th December and would be invited to
      attend the meeting and consider the committee‟s views on the matter.


14.   Report from BSHG Awayday, 16th May 2007

      The aim of the away-day was to consider a 7-10 year perspective and identify three areas
      for strategic development to help the Society develop an achievable action plan. Key
      features in the current landscape are the reform of the NHS research and development
      system and the creation of the National Institute for Health Research and Office for
      Strategic Co-ordination of Health Research. There is a new emphasis following the
      Cooksey report of the need to strengthen translational research and identify clear patient
      benefits as the outcome of research. At present Genetics is not recognised as one of the
      research networks. It was also recognised that the period when specialised genetic
      services s could benefit from central funding was drawing to a close and that a period of
      financial stringency was likely. Genetic services must adapt to this new environment.

      The discussion groups agreed three areas for the wider society to discuss:

      1. Re-emphasising the aims of the Society and strengthening its structure

         The discussion from this document will set strategic goals for the BSHG within the
          framework of the existing aims of the society
         A new executive post was proposed to help it achieve its strategic goals, promote the
          public profile of the Society, and strengthen its financial base.
         The Society will improve interactions with other medical societies and disciplines
          (for example the social sciences) and strengthen its relationship with patient groups
          and industry.



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         The BSHG will take actions to retain the existing membership and extend
          membership appropriately beyond its current base (NHS employed professional
          staff).
       The BSHG will ensure that the value of Society membership is more evident.
       The Society will consider the benefits and issues involved in the adoption of one or
          more Patrons.
      2. New directions for Human Genetics in healthcare:

         The BSHG recognises that the outcome of a genetic intervention is changing from
          being primarily seen as better information to the patient to inform life decisions
          towards improved prevention of and management and therapy for genetic conditions.
       In recognition of this the Society should encourage and facilitate education and
          training for example in the management and analysis of clinical trials.
       The Society should promote measures to strengthen the infrastructure of the genetic
          network to better meet the needs of service and research by promoting the
          standardisation and communication of clinical and laboratory information systems.
       The BSHG recognises the increased relevance of genetic interventions to common
          conditions and will encourage genetics to work with colleagues in other disciplines
          to set standards in clinical care pathways.
      3. Actions to influence policy development:
       The BSHG will help ensure that Genetics retains its identity as a research theme by
          supporting the candidature of members of the community to the College of the
          NIHR.
       The Society will encourage the retention of an identifiable Genetics Policy function
          within the Department of Health.
       The BSHG will strengthen its effectiveness in responding to issues of public interest.

15.   Diagnostics Summit 14 – 15 January 2008 – JCMG representation

      NOTED:            details of a joint PHGU and RCPath Diagnostics Summit due to be held
      on 14 and 15th January 2007 to discuss issues concerning the evaluation and integration
      of molecular diagnostic laboratory tests within the NHS.

      The aim of the meeting was to develop a set of recommendations directed towards NHS
      policy makers.

      Dr Taylor asked if the GMGS was sending a representative to this meeting. Dr Burnham
      asked whether the RCP was aware of this event and if it was interested in sending
      representatives to attend the meeting. The JCMG agreed that a single representative from
      the JCMG would be appropriate as the meeting was planned to be strategic not detailed in
      structure.

      AGREED:           Dr Crolla agreed to attend as the JCMG representative. Dr Burnham
      noted that the RCP would be willing to send a representative to the meeting though a
      number of physicians were attending the event and could if required be asked to represent
      the College as well.

      Action           Dr Crolla, Dr Burnham


16.   National Screening Committee Steering Group on Fetal Anomaly Screening
      Programme

      NOTED:          details of the formation of the new NSC Fetal Anomaly Screening
      Programme Steering Group, and the need to nominate a clinical geneticist to represent the



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      JCMG on the group.

      AGREED:           Dr Tessa Homfray kindly agreed to serve as the JCMG representative
      on the NSC Fetal Anomaly Steering Group. Dr Crolla had attended the first meeting of
      the Steering group and had expressed the thanks of the JCMG for the invitation to
      provide a representative. Dr Crolla would inform Prof Soothill (Chairman of the new
      steering group) that Dr Homfray is the nominated JCMG representative.

      Action            Dr Homfray, Dr Crolla


17.   Commissioning Clinical Genetics Service

      NOTED:             a copy of a letter from Dr Crolla on behalf of the JCMG responding to
      a request from the RCP as to whether it would be appropriate to set up a new working
      party to review or update the 1985 RCP document „Commissioning Clinical Genetics
      Service‟. The letter stated that given recent developments that had transpired, most
      notably the significant reorganisation of specialist commissioning, a review of the
      document at this time was unlikely to serve any useful purpose.

      It was therefore agreed to wait a few years for the changes to take full effect before
      reviewing the document again.


18.   JCMG Working Group on diagnostic tests utilizing free fetal DNA (non-invasive
      prenatal diagnosis)

      NOTED:           details of the fist meeting held of the Free Fetal DNA Working Group,
      chaired by Dr Tessa Homfray. The aim of the group was to consider whether free fetal
      DNA (ffDNA) may also be a method of assessing fetal well-being.

      In view of the piecemeal introduction of Screening for Downs Syndrome, the working
      group felt that by establishing a group at this pre-implementation stage, effective
      introduction might be possible.

      A number of priorities were agreed. These included the need to identify laboratory
      provision of the ffDNA method, establish quality markers and standardisation; establish
      accurate data collection for audit; encourage wider participation from molecular genetics
      laboratories; and establish costs. There were also plans to hold 2 workshops to explore
      this new technology and widening participation in this.

      The next meeting of the working group was due to be held on 5 th December 2007. Dr
      Homfray would report back to the JCMG at the next meeting.

      Action: Dr Homfray


19.   Foundation for Population Genomics (previously PHGU)

      NOTED:            an update report on the work being performed by the PHG
      Foundation


20.   National Institute for Health Research

      NOTED:            that, as discussed at the previous JCMG meeting, Dr Crolla would put



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      together information on the basis of that meeting's discussions and circulate for
      discussion at the next JCMG meeting.

      Action: Dr Crolla


21.   UK Haemophilia Centre Doctor's Organisation

      NOTED:           a written update report on the UKCHDO Genetics working party
      meeting held on 10th September 2007, produced by Dr Alan Fryer.

      A planned audit of the use of the Working Party‟s consent form for DNA testing had not
      yet taken place. No further progress had been made regarding the Gene therapy trial. Dr
      Fryer noted that there was concern above the tariff issue, particularly the feeling within
      the Haemaophilia lab testing network that there was not enough recognition on the part of
      the Department of Health of the level of molecular testing conducted outside UKGTN
      laboratories, notably haematology and metabolic biochemistry testing. Dr Fryer asked
      whether it would be useful for the Network to make a further presentation to the JCMG
      on the matter.

      The next meeting of the UKHCDO was due to be held in January 2008. Dr Fryer would
      keep the JCMG up to date with developments.


22.   RCP Clinical Effectiveness Forum

      NOTED:            details from Dr Fryer about a meeting he had attended of the RCP
      Clinical Effectiveness Forum. Issues discussed at the meeting included national audit,
      peer review and revalidation. Dr Fryer reported that a meeting of the CGS revalidation
      committee was due to be taking place in a few weeks time.

      AGREED:           that Dr Fryer would provide the JCMG with a report on this meeting.


23.   JCMG Membership - Current roles and Chairman elect

      NOTED:            that as discussed above, the JCMG would revert to the RCP in 2009
      and the next chair would be nominated by the College.

      AGREED:             that Dr Crolla hoped the College would be able to nominate a
      successor for the JCMG chair by early 2008 so that a handover process could be phased
      before the new chair takes over in January 2009.


24.   Any other business

      i)       RCP Conference Programme 2010

      NOTED:         the JCMG could suggest ideas for an RCP conference in 2010.
      The JCMG chair would be happy to receive any suggestions from committee members.

      ii)      RCPath Annual Report

      NOTED:            Dr Crolla had contributed a summary of the JCMG‟s work for
      inclusion in the RCPath‟s annual review. Dr Crolla thanked Dr Holder for the
      information she had provided on workforce issues.



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      iii)    Genetics CME contribution for 'Clinical Medicine'

      NOTED:           a request for a for Genetics CME contribution for Clinical Medicine.

      AGREED:            that Dr Ruth Newbury-Ecob, Dr Alan Fryer and Professor Farndon
      would liase to commission 5 articles that could be included in the RCP Clinical Medicine
      publication. Some suitable topics put forward by JCMG members included „in-born
      errors‟, genetic technologies and genetics testing.

      iv)     Human Tissue & Embryonic Draft Bill

      NOTED:          Dr Crolla informed the committee the committee that the Human
      Tissue and Embryology Draft Bill was currently going through the second reading at
      Parliament.

      v)      Family History Genetics and Insurance - Public Meeting 22nd November 2007

      NOTED:            that details of the public meeting on Family History Genetics and
      Insurance due to be held on 22nd November 2007 had been included by email to
      committee members.


      vi)     Census of Consultant Physicians in the UK 2006

      NOTED:           details of the Census of Consultant Physicians in the UK 2006


      vii)    From Medical Genetics to Genetic Medicine - Work of the UK Genetics
              Knowledge Parks

      NOTED:           the publication of information on the work of the UK Genetics
      knowledge Park, entitles „From medical genetics to genetics medicine – work of the UK
      Genetics Knowledge Parks'.


25.   Dates of forthcoming meetings

              Thursday, 24th January 2008 at 11:00am at Guy‟s Hospital
              Tuesday, 13th May 2008 at 11:00am at the Royal College of Pathologists
              Tuesday, 14th October 2008 at 11:00am at the Royal College of Pathologists




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