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                                HUMAN GENETICS COMMISSION

                                     SECRETARIAT REPORT

                                         Paper HGC08/P14


1.   This paper contains updates from other organisations with relevant regulatory and/or
     advisory roles, and items for information. It includes:

          UK Government health and science policy related issues
          Current activities of DH-sponsored organisations
          Work of other UK organisations relevant to HGC
          Information about relevant foreign and international developments

                     UK Government Health and Science Policy Related Issues

         Human Fertilisation and Embryology Bill

         2. The Bill progressed to the House of Commons in early February this year, and
            the primary issues of controversy were voted on decisively there at the
            Committee stage. These included the permissibility of human-animal “admixed”
            embryos for research; the removal of the existing requirement for IVF clinics to
            consider the child‟s need for a father; and the creation of tissue-matched children
            via embryo selection to aid a seriously-ill sibling. In each case, the Government‟s
            position was supported, on the basis of a free vote.

         3. Although not part of the Bill itself, the issue of abortion has been ruled within the
            scope of the Bill and backbench MPs have tabled amendments during the Bill‟s
            progress to alter the Abortion Act 1967. A series of amendments at the
            Committee stage which sought to lower the existing abortion time limits were

         4. After the summer recess, further amendments to the Bill will be debated, after
            which the House of Lords will consider all changes made to the Bill by the House
            of Commons. The two Houses will need to reach agreement on the final text of
            the Bill during the Autumn. The Bill remains a flagship Government Bill and is

                                                                             HGC08/P14 – PAGE 1

     expected to receive Royal Assent by the end of the current parliamentary

DH Science Review

  5. The Government Office for Science is undertaking a programme of reviews to
     assess the quality of science used by Government departments. The report on
     the DH Science Review is currently in preparation and is expected to be
     published later in 2008.

                            DH-sponsored Organisations

  Human Fertilisation & Embryology Authority (HFEA)

  Appointment of new HFEA members

  6. In May 2008, the Appointments Commission began the recruitment of new
     members of the HFEA.     The new appointments were announced on 5
     September. They are:

        Dr Mair Crouch, Lecturer in Bioethics, University of Glasgow
        Ms Jane Dibblin, Freelance Executive Producer
        Ms Gemma Hobcraft, Trainee Barrister
        Ms Lillian Neville, Senior Lecturer in Nursing
        Mrs Debbie Barber, Nurse Consultant and Lecturer in Women´s Reproductive
        Professor Lesley Regan, Professor and Head of Department of Obstetrics
         and Gynaecology, Imperial College London

  HFEA annual conference

  7. The HFEA's 2008 annual conference takes place on 13th October at the Royal
     College of Surgeons. This year, the conference takes the new Human
     Fertilisation & Embryology Bill as its theme. As well as the changes arising from
     the Bill, the conference will look towards embedding new approaches to
     regulation and will hear about HFEA horizon scanning activities on future
     developments in the assisted reproduction sector. The conference will also
     highlight the opening of the HFEA register to donor conceived young people,
     donors and researchers, and the national strategy to reduce multiple births (see
     item below). The Public Health Minister, Dawn Primorolo, is scheduled to give
     the keynote speech.

                                                                  HGC08/P14 – PAGE 2

HFEA horizon scanning annual report

8. The HFEA published its 2007/2008 annual report on HFEA horizon scanning
   activities in July. The report describes the HFEA‟s horizon scanning process and
   contains a summary of outcomes of the 2006/2007 horizon scan as well as a
   detailed account of issues identified in the 2007/2008 scan. A copy of the report
   is supplied with the plenary papers and is also available on the HFEA website.

New professional guideline for the use of single embryo transfer

9. On 3rd September the British Fertility Society (BFS) and the Association of
   Clinical Embryologists (ACE) issued new guidelines, in the journal Human
   Fertility, to assisted UK clinics in introducing an elective single embryo transfer
   (SET) policy for IVF treatment.

10. The BFS and ACE are the main professional groups leading the One at a Time
    campaign, the national strategy to reduce the number of multiple pregnancies
    resulting from IVF, which is the biggest health risk arising from fertility treatment.
    The national strategy on SET and multiple pregnancies/births is supported by the
    HFEA as well as the British Infertility Counselling Association, Infertility Network
    UK, Multiple Births Foundation, Royal College of Nursing, Royal College of
    Obstetricians and Gynaecologists, and the Royal College of Paediatrics and
    Child Health.

Human Tissue Authority

Position statement on regulating human embryonic stem cell lines for human

11. In May 2007 the HTA, Human Fertilisation and Embryology Authority (HFEA) and
    Medicines and Healthcare Products Regulatory Agency (MHRA) issued a joint
    statement on the regulation of human embryonic stem cell lines which are going
    to be used for human application (patient treatment). The statement has recently
    been updated to incorporate the HTA‟s extended remit under the Quality and
    Safety Regulations. A copy of this regulation can be found in the guidance
    section of the HTA website.

New Authority Members

12. Four new Authority members have recently been appointed to the HTA. Three by
    the Secretary of State and one by Ministers in the Northern Ireland Executive.
    These are the first new Authority members to join since the HTA was established
    in 2005. Authority members meet with senior HTA management approximately
    10 times a year to shape HTA strategy and policy. The new members are:

      Jodi Berg, Independent Complaints Reviewer

                                                                     HGC08/P14 – PAGE 3

      Brian Coulter, Northern Ireland representative.
      Pamela Goldberg, Chief Executive of Breast Cancer Campaign
      Catharine Seddon, producer of film documentaries and magistrate

Codes of practice consultation update

13. On 1 August 2008, the Authority launched a public consultation on their revised
    codes of practice. The consultation will run until 14 November 2008.
14. Seven of the codes of practice are being revised to reflect their experience of
    regulation. There is also an entirely new code on research.
15. The draft codes and the consultation documents are available in the „consultation
    and events‟ section of the HTA website.
16. In October, the Authority will be holding consultation workshops in London and
    Newcastle for people from the regulated sectors.
17. For questions regarding the consultation process, please contact Rosanna Bate,
    Policy Officer: or 020 7211 3414.

Annual Review

18. The Authority have recently published its 2007/08 Annual Review „Building
19. This has been a busy year for the HTA in which it approved almost 1000 living-
    donor transplants and licensed nearly 750 establishments (including satellite
    sites). A copy of the review is available on the HTA website.
20. If you would like to order a printed copy of the Annual Review, please email
    Serena Box, Communications Assistant: or 020 7211

Gene Therapy Advisory Committee (GTAC)

21. Since the previous HGC plenary meeting the Gene Therapy Advisory Committee
    has met once. At this meeting the Committee reviewed one new protocol for non-
    small cell lung cancer as well as a re-review of a trial which was given conditional
    approval two years ago.

22. In the afternoon, the Committee began its training for its new role in becoming
    the Research Ethics Committee for the UK that reviews certain stem cell trials.

23. The next GTAC Committee meeting will be held on 1 October when three trials
    are scheduled for ethical review: one for treatment of Parkinson's Disease, an
    influenza vaccine for very young children and a further trial for Duchenne
    Muscular Dystrophy.

                                                                    HGC08/P14 – PAGE 4

24. The GTAC annual report, published in July, gives an overview of all trials and
    consultations that the Committee have commented on in 2007 as well as a
    comprehensive up-to-date list of all ongoing gene therapy trials in the UK. A
    copy is provided with the meeting papers.

25. More information on GTAC can be found                          on     their   website

Genetics and Insurance Committee (GAIC)

26. GAIC last met on 29 July 2008. The main item for discussion was the ABI
    compliance exercise for 2007 which the Committee approved. Also discussed at
    the meeting was the Committee‟s future work plan and the operational review of
    the Concordat and the extension of the Moratorium (see paper HGC08/P15

27. More information on GAIC can be found                         on     their    website:

NHS draft Constitution and research

28. The Government‟s draft NHS Constitution was published for consultation at the
    end of June (consultation runs until 17 October). It includes a pledge on access
    to information and informed choice that means, among other things, that all
    patients in the NHS will be made aware of relevant medical research and
    opportunities to participate in medical research and clinical trials that are relevant
    to them. The handbook says („Informed choice‟, p.24) that patients can expect
    health professionals or research professionals to use care records to identify
    whether they are suitable to participate in approved clinical trials, and that
    appropriate patients will be approached accordingly.

29. A copy of the Constitution and draft handbook can be found at Annex B.
    Consultation responses should be sent to by 17
    October 2008.

                        Activities of Other UK Organisations

UK Biobank

                                                                       HGC08/P14 – PAGE 5

30. Since the previous HGC meeting, UK BioBank has opened two more centres, in
    Reading and in Bristol. This means that recruitment is currently underway in
    North Manchester, Cardiff, Edinburgh, Stoke, Leeds, and Newcastle upon Tyne.
    The centres in Oxford, Glasgow and South Manchester have now completed
    their recruitment.

The Wellcome Trust

31. On 10 July, the Wellcome Trust held the „Wellcome Debate‟ – this time on the
   topic of genetic testing. The panel of speakers included HGC Commissioner Dr
   Christine Patch who spoke alongside three other experts: Dr Alison Stewart,
   PHG Foundation; Dr Kari Stefansson, DeCODE Genetics; and Dr Mark
   Henderson, Science Editor of The Times. The debate explored issues raised by
   genetic testing including the regulation of direct-to-consumer genetic testing and
   the predictive power and validity of tests based on data provided by genome-
   wide association studies.

Nuffield Council of Bioethics

New project on personalised healthcare

32. The Council has set up a new Working Party to investigate the ethical issues
    raised by technologies that have potential to deliver personalised healthcare,
    such as personal genome technologies. The Working Party will be chaired by
    Professor Christopher Hood, Professor of Government at the University of Oxford
    and Director of the ESRC‟s Public Services Research Programme. A full
    announcement about this project will be made in the autumn.

Consultation on dementia

33. The Council has been consulting on the ethical issues raised by dementia. The
   consultation received in the region of 200 submissions. In August, a public
   workshop (organised by Opinion Leader) was held at which fifty members of the
   public deliberated on issues such as whether you should ever restrain people
   with dementia, and how decisions about treatment and care should be made.
   The outcomes of all activities will be invaluable to the Working Party as they
   begin to formulate recommendations for policy and practice. A report setting out
   the group‟s finding‟s will be published in autumn 2009.

Forensic use of bioinformation: ethical issues

34. This report has been downloaded over 40,000 times since it was published in
   September 2007. The report continues to receive media coverage, including a

                                                                 HGC08/P14 – PAGE 6

   series of articles about the report in the journal Biosocieties. Working Group
   members and the Secretariat have been involved in a range of activities to
   disseminate the report. Of particular note is a presentation given by the Council
   Director, Hugh Whittall, to an FBI Symposium in Washington.

Public health: ethical issues

35. This report has been downloaded over 100,000 times since it was published in
    November 2007. Dissemination activities have included a key note speech by
    Professor Ken Calman at the UK Public Health Association Annual Conference,
    and a meetings with the Department of Health, NICE and the Prime Minister‟s
    Strategy Unit.

PHG Foundation

Safeguards for new diagnostic tests

36. A major strand of the Foundation‟s work this year has been to address the lack of
    systematic evaluation, and the inadequacy of regulatory frameworks, for the
    burgeoning number of genetic tests available to both clinicians and consumers
    for diagnosis and prognosis of disease and tolerance to medicines.

37. The majority of genetic tests are classified as low risk by the IVD directive and
    are therefore not subject to pre-market review. The clinical validity and utility of
    these tests are not evaluated before they are sold to the public. The tests are
    unlikely to result in direct physical harm to an individual, however, the information
    generated by them may be inaccurate or misleading. The information may also
    lead an individual to adopt certain lifestyle choices which could impact on their
    future health.

38. For the last HGC plenary meeting, the Foundation reported on the January 2008
    meeting of experts („diagnostics summit‟), organised jointly by the PHG
    Foundation and the Royal College of Pathologists, and its outcomes as published
    in „The Evaluation of Laboratory Diagnostic Tests and Complex Biomarkers‟ in
    May (at The main proposals
    coming out of the meeting included the establishment of a new body to ensure
    the evaluation of diagnostic tests, and the creation of a publicly available
    database of new and existing laboratory tests that would contain evidence (or
    express reference to the lack of it) regarding the validity and utility of clinical
    laboratory tests.

39. Since then, interest in taking these proposals forward has grown as a result of a
    parliamentary briefing, a presentation to the MHRA Committee on the Safety of
    In Vitro Devices, and further discussions within the NHS. Later this year, the
    PHG Foundation will co-host, with the OECD, a workshop on policy issues for the
    development and use of biomarkers in health care.

                                                                    HGC08/P14 – PAGE 7

40. The Foundation are looking to expand the scope of their work in this area to
    address tests for „genetic susceptibility‟ – aimed at predicting the likelihood of
    future onset of disease - and their potential use for population screening. They
    will carry out some methodological work to determine the adaptations that may
    be required to make the Foundation will consider whether consumers are
    adequately protected by current legislation, in light of the growing market for
    predictive tests as a „lifestyle‟ product.

41. Foundation representatives will be attending the next meeting of the Non-
    Invasive Prenatal Diagnosis (NIPD) working group, to be held at the National
    Council for Voluntary Organisations (NCVO) in London, on Tuesday 30th
    September from 10am - 4pm. Coffee will be available from 9.30am. A draft
    agenda is attached at Annex A..

42. The purpose of the meeting is to agree a set of recommendations on the
    implementation of cell-free fetal nucleic acid testing technology in the NHS. The
    meeting will include consideration of both application-specific and general
    recommendations, including implementation, timing, oversight, effect on existing
    services, access, training and education.

Nowgen Centre for Genetics in Healthcare

Williams Syndrome

43. The Nowgen Centre„s European Project Office has received funding from the UK
    Williams Syndrome Foundation to develop international clinical guidelines and
    care tools to support the health care of Williams Syndrome patients. Williams
    Syndrome is a rare genetic condition characterised by developmental disorder
    and can be associated with cardiac malformation, psychomotor retardation, a
    characteristic facial dysmorphism and a specific cognitive and behavioural
    profile. It affects approximately 1 in 25,000 individuals. The Foundation, which is
    run by families of Williams Syndrome patients, raises funds for research and
    aims to improve the welfare of those with the condition. The Nowgen initiative will
    begin by updating the American Academy of Pediatrics‟ recommendations for
    Williams Syndrome follow-up care, which were published in 2001. The revisions
    will be informed by an analysis of research of the condition since 2001 as well as
    a national meeting for UK experts in Williams Syndrome in order to establish an
    expert consensus. The revisions will also feed into the development of further
    care tools, including diagnostic and review checklists for physicians, emergency
    care information and guidelines, and a Personal Health Record (PHR).

44. For further information, please contact Pam Griffiths at Nowgen.

                                                                   HGC08/P14 – PAGE 8

Association of British Insurers

The extension until 2014 of the insurance Concordat and Moratorium

45. Insurers are committed to complying with the Concordat and Moratorium agreed
    with the Government on the use of genetic test results in insurance, and also with
    the industry Code of Practice. The yearly report on insurer compliance in 2007
    was agreed with the Government‟s Genetics and Insurance Committee (GAIC).

46. By agreement between the Department of Health and the ABI, and as part of the
    review process, the moratorium has been extended to 2014, with a review date
    of 2011.

47. With an ongoing focus on continuous improvement and treating customers fairly,
    the ABI and the Chartered Institute of Arbitrators (CIArb) have agreed a new
    arbitration scheme for dealing with any complaints about an insurer‟s use of
    genetic test results.

                      Foreign and International Developments

Opinion of the Portuguese Bioethics Council (CNECV) about DTC genetic

48. The Portuguese Bioethics Council, have approved recommendations on the
    commercial use of genetic tests and, in particular, on direct-to-public (DTC)
    genetic testing. (See also paper HGC08/P16, below)

49. In brief, CNECV was of the opinion that genetic tests for health- related purposes
    must not be offered directly to the public. Non-medical applications of genetic
    testing must follow the same requirements of quality assurance, transparency of
    claims and loyal advertising, if they are to be sold directly to consumers. In
    general, any kind of genetic testing must follow the principles of transparency and
    rigorousness, in order to assure its quality and preserve the confidence of the
    public. Prior information about sensitivity, specificity and the predictive value of
    each test, and the evidence available for the specific population, as well as on
    the possible personal and family implications of its results, must be made
    available in a clear and easily accessible way, to enable informed decision-
    making. All genetic testing labs must have a quality system in place and assure
    privacy of their users and confidentiality of the information, and be subjected to
    appropriate licensing and certification, as well as to accreditation of the tests they
50. It was felt that regulation is needed to address these quality requirements,
    including transparent reporting about the methods used and their limitations, the

                                                                     HGC08/P14 – PAGE 9

         lab that has actually performed the test and its quality assurance status, as well
         as to promote and verify the practice of fair advertising. Given the difficulties of
         regulating transborder flow of samples and tests being offered over the web, it
         was considered that there is an important place for harmonization and
         international cooperation among regulating agencies, and that education of all
         the professionals involved and of the public at large will be of the utmost

   51. Specifically, any health-related genetic tests must not be made available without
       medical prescription and follow-up; and, in the particular case of predictive
       testing, pre and post-test genetic counselling must always be available. It is
       hoped that this will now be followed by effective legislation and regulatory efforts
       from the competent authorities.

   Health Council of the Netherlands

   52. In April 2008, the Health Council of the Netherlands submitted an advisory report
       entitled „Screening: between hype and hope’ to the Dutch Minister of Health,
       Welfare and Sport. The report considers issues relating to all types of screening
       and recommends the setting up in the Netherlands of an independent body to
       oversee screening, partly analogous to the UK National Screening Committee
       but with a wider remit. The report also suggests that quality assurance of direct-
       to-consumer tests could be provided by a „quality mark‟. The criteria that such a
       „quality mark‟ would have to meet could be based on independent health
       technology assessments – compiled by, for example in the UK, the NIHR Health
       Technology Assessment Programme.

   53. The contents pages and the executive summary of the report are provided at
       Annex C. The full 178 page report is available on the Europa website at

Council of Europe Steering Group on Bioethics

   54. The Council of Europe (CoE) Steering Group on Bioethics (CDBI) held its 34th
       plenary meeting in Strasbourg between 4 and 6 June.                  Among the items
       discussed were an update from the exploratory group on predictivity, genetic
       testing and insurance. (The UK is represented on the exploratory group.)
       Indications are that the initial exploration will not be restricted to DNA-based tests
       but also cover non-genetic predictive tests. The working group will begin by
       considering the notion of „predictivity‟ and delegations were invited to nominate
       appropriate experts.

   55.   There was also discussion of two CoE European Health Committee (CDSP) draft
         Recommendations on (1) Monitoring the Protection of Human Rights and Dignity
         of Persons with a Mental Disorder and (2) the Impact of Genetics on the
         Organisation of Health Care Services and Training of Health Professionals.

                                                                        HGC08/P14 – PAGE 10

  56. A working group of the Committee is also expected to produce a draft guide for
      research ethics committee members in December 2008 and background paper
      on preimplantation and prenatal genetic tests is in preparation by the Secretariat.

                                                                     HGC Secretariat
                                                                     September 2008


Annex A –   Draft Agenda for the Cell-free fetal nucleic acids for NIPD working

Annex B –   NHS Consitution (for consultation) and Handbook to the draft NHS

Annex C –   Health Council of the Netherlands advisory report ‘Screening:
            between hype and hope’

                                                                    HGC08/P14 – PAGE 11

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