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                                HUMAN GENETICS COMMISSION

                                     SECRETARIAT REPORT

                                         Paper HGC08/P21


     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 international developments

                     UK Government Health and Science Policy Related Issues

         Human Fertilisation and Embryology Bill

     2. In October, the Bill completed Report stage and Third Reading in the Commons. The
        changes made during the Bill's passage through the Commons were considered and
        approved by the Lords on 29 October 2008. Royal Assent was received on 13
        November 2008 when the Bill became the Human Fertilisation and Embryology Act

     3. The implementation process will introduce regulations about conditions for extension
        of storage of gametes and embryos, parental orders, licensing and appeals, and
        information. In order to enable public consultation and Parliamentary debate on the
        affirmative regulations, it is planned that the majority of its provisions will come into
        force in October 2009, with the provisions relating to parenthood commencing in
        April 2009.

     4. The text of the Act and explanatory notes are available on the Office of Public Sector
        Information website (

                                                                            HGC08/P14 – PAGE 1

House of Lords Science & Technology Committee Inquiry into genomic medicine

5. The Committee has been busy taking oral evidence with one evidence session
   nearly every week since Parliament returned in October. The last evidence session
   will be in January, when Ministers are expected to give evidence. The Committee‟s
   report is expected to be published in Spring 2009. This will be followed by a formal
   Government response.

NHS Genetics Team

18 weeks

6. The Service Transformation (18 weeks) Team in DH and the genetics community
   are working together to develop pathways that will support a consistent interpretation
   of „clock starts and stops‟ and will help to provide a clearer understanding of how to
   apply 18 weeks to genetics referrals. The pathway guidance will be disseminate

Developments in Specialised Commissioning

7. The National Specialised Commissioning Group (NSCG) is taking forward a review
   of all the specialised services definition in the Specialised Services National
   Definition Set. The timetable for delivering the review of national specialised
   definition of genetic services has changed and it is now expected in Spring 2009.

8. The NSG is also developing frameworks for the designation of specialised services.
   The documents to support designation of specialised genetic services have been
   drafted and are currently being considered by NSCG.

National Genetics Education and Development Centre (NGEDC)

9. DH has agreed funding for another 5 years for the provision of the NGEDC from 1
   September 2009. DH is in the process of tendering for this contract.

DH Science Review

10. The DH Science Review was published in October. It is available at the following

                              DH-sponsored Organisations

Human Fertilisation & Embryology Authority (HFEA)

                                                                     HGC08/P14 – PAGE 2

 HFEA open meeting

 11. The Authority is holding an open meeting in Edinburgh on 17th December. Some of
     the items the Authority will be discussing include information and guidance provided
     to patients who are considering travelling abroad for treatment as well as an update
     on communications around forthcoming consultations. Further details are available
     on the HFEA website.

HFEA Consultation

 12. The HFEA is consulting on its 8th Code of Practice, revised consent forms and the
     presentation of clinic data. The consultation on presentation of clinic data will be a
     two-stage process with the first stage of the consultation closing on 15 December.
     The consultation on the Code of Practice and consent forms runs until 18 February
     2009. In addition to online questionnaires, the Authority will be holding public
     meetings through January and February. Further details are available on the HFEA

 Human Tissue Authority

 13. The HTA has been conducting a public consultation on its codes of practice. The
     consultation closed on 14 November. The Authority consulted on seven new codes
     of practice which have been revised to reflect the HTA‟s experience of regulation.
     The Authority also consulted on a new code of practice on research.

 Gene Therapy Advisory Committee (GTAC)

 14. At the October GTAC meeting three new applications were considered: one for
     treatment of Parkinsons's Disease, an influenza vaccine for babies and a Duchenne
     Muscular Dystrophy study, all of which required small amendments before full
     approval can be given.

 15. In addition, GTAC members considered a draft Workplan for 2008 and 2009 to
     develop policies that meet their responsibilities under their new Terms of Reference
     which came into force on 1 May 2008.

 16. Under the new Terms of Reference, the Committee has a new role in ethical
     oversight of certain types of stem cell therapies. At GTAC‟s next meeting in
     December, discussion will concentrate on developing two important guidance
     papers. The first is to develop a regulatory route map for UK stem cell research
     which will give clear guidance to stem cell researchers and clinical trialists on the
     steps they require to take; the second and equally important issue is to develop
     ethical advice on the use of unlicensed gene therapy and stem cell line derived
     therapies in humans.

 17. More information on GTAC can be found on                      the    GTAC     website:

                                                                         HGC08/P14 – PAGE 3

Genetics and Insurance Committee (GAIC)

18. The Committee met on 28 October 2008. At the time of writing, the minutes of this
    meeting had not been published.

19. The Committee‟s chairman, Professor David Johns, gave evidence to the House of
    Lords genomic medicine inquiry on 29 October. Professor Johns appeared
    alongside Mr Stephen Haddrill, Director General of the Association of British
    Insurers; Ms Sarah Veale, Head of Equality and Employment Rights, Trades Union
    Congress; and Mr Michael Harrison, Barrister.

Patient Information Advisory Group (PIAG)

20. In October, PIAG submitted responses to the OECD consultation on Draft
    Guidelines for Human Biobanks and Genetic Research Databases and the
    consultation on the draft NHS Constitution. The responses are available on the PIAG
    website (

                           Activities of Other UK Organisations

Nuffield Council of Bioethics

New Working Party on personalised healthcare

21. The Council has set up a new Working Party which will consider the ethical issues
    raised by new technologies that are making diagnostic and therapeutic healthcare
    services increasingly personalised. Such technologies include whole body scans,
    mapping the genome of individual patients, and „telemedicine‟ – the delivery of
    healthcare services over a distance.

22. The Working Party is chaired by Christopher Hood, Professor of Government at the
    University of Oxford and Director of the Economic and Social Research Council‟s
    Public Services Research Programme. The Working Party, which met for the first
    time in September, includes members with expertise in medicine, science, law,
    philosophy and sociology.

23. The group will hold evidence gathering sessions and a public consultation in spring
    2009 to draw together wider views on the issues raised. A report with
    recommendations for policy and practice will be published in early 2010.

Dementia: ethical issues

24. The Council‟s consultation on the ethical issues raised by dementia closed at the
    end of July 2008. The Council had a good response, with 200 people and

                                                                    HGC08/P14 – PAGE 4

   organisations sending in evidence and views on the consultation questions.
   Respondents considered issues such as whether you should ever restrain people
   with dementia and how decisions about treatment and care should be made.

25. In addition to the call for evidence, 55 members of the public deliberated the issues
    at a one-day workshop hosted by the Council in Birmingham in August. A report of
    the discussions that took place at the workshop is being considered by the Working

26. Drawing together the outcomes of the consultation process, the Working Party is
    now beginning to formulate its recommendations for policy and practice. A report
    setting out the group‟s findings will be published in autumn 2009.

Workshop on volunteering, donation and payment in clinical practice and research

27. Following preliminary discussions at its annual Forward Look meeting in May, the
    Council decided to explore the topic of volunteering, donation and payment in clinical
    practice and research in more detail. As such, a one-day workshop is being
    organised in December 2008 where the Council will discuss the ethical issues raised
    with experts in the area.

Human Fertilisation and Embryology Bill 2007-08

28. An amendment of the Human Fertilisation and Embryology (HFE) Bill 2007-08 to
    introduce a national bioethics commission was debated in the House of Lords in
    January 2008. The amendment was resisted by the Government, and was
    ultimately withdrawn. It was not carried through to the committee stage of the House
    of Commons, though an amendment to set up a Parliamentary Bioethics Committee
    to focus on issues that arose in the context of the HFE Bill was tabled during this
    stage. It, too, was later withdrawn. The Bill was debated in the House of Commons
    for the final time on 22nd October 2008, with no further amendments relating to the
    setting up of a National Bioethics Commission.

External review of Council ethics

29. In 2006 the Council invited John Harris, Professor of Bioethics at the University of
    Manchester, to carry out an external review of the way ethical frameworks,
    principles, norms and guiding concepts feature in its publications.

30. The authors found that the ethical frameworks used in the Council‟s publications had
    become increasingly explicit and transparent. The Council agreed with the authors‟
    comment that “best practice in ethical decision making involves making decisions on
    the basis of the best available evidence, in the light of consistently applied and
    relevant moral principles which are either generally agreed and accepted or which
    can be established to be relevant by moral argument.” The review is available to
    download on the Council‟s website.

                                                                      HGC08/P14 – PAGE 5

PHG Foundation

Cardiac genetics

31. Our review of cardiac genetics services is progressing well, with a high level of
    involvement from our large working group, which includes stakeholders such as
    clinical geneticists, cardiologists, electrophysiologists and other health professionals,
    health service commissioners and managers, and representatives from
    organisations such as the British Heart Foundation, the Cardiomyopathy
    Association, the Arrhythmia Alliance, Cardiac Risk in the Young (CRY) , Sudden
    Arrhythmic Death Syndrome (SADS) UK and the Marfan Association UK.

32. We have reviewed the epidemiology of relevant disorders, and developed with
    patients and professionals a description of the important elements for an 'inherited
    cardiac conditions' service. A survey has been conducted to identify the main
    providers of specialist diagnosis and care for patients and families with suspected
    inherited cardiac conditions, and to inform a description of current service provision
    in the UK.

33. The findings and recommendations of the Working Group to the United Kingdom
    Cardiac Genetics Network will be completed in 2009; the final report will detail key
    components of cardiac genetic services and related elements in primary and
    secondary care, pathology and coroner services; current and projected future
    demand for these services will be described. Technological development in this area
    has moved extremely quickly in recent years and is likely to continue in the same
    manner, so that the potential impact of emerging knowledge and capabilities will also
    be taken into account.

   For further information contact

Non-invasive prenatal diagnosis

34. The PHG Foundation is currently undertaking a project on non-invasive prenatal
    diagnosis, looking at the technical issues and the ethical, legal and social
    implications of each of the applications of cell-free fetal nucleic acids. The project
    was commissioned by the Joint Committee for Medical Genetics and is being led by
    an expert steering group in conjunction with a working group of wider stakeholders.
    The project seeks to identify barriers to implementation of this technique within the
    NHS, and highlight the wider implications of NIPD both for the health service itself
    and to the public at large.

35. Following two successful working group meetings, the report is nearing completion.
    The project has already generated wide interest. The use of cell-free fetal nucleic
    acids for non-invasive prenatal diagnosis of Down Syndrome has been much in the
    news recently, following the release of new research from the US that used a

                                                                        HGC08/P14 – PAGE 6

   sequencing-based approach to identify aneuploidies; this was shortly after the final
   meeting of the expert working group at the end of September. A preliminary set of
   draft recommendations from this meeting was submitted to the Joint Committee on
   Medical Genetics to keep them fully appraised of progress, and the comprehensive
   final report will be presented to the meeting of the JCMG in January 2009.

36. Evidence from the PHG Foundation and the JCMG specifically addressing the use of
    cell-free fetal DNA and RNA for non-invasive prenatal diagnosis has also been
    submitted to the House of Lords Science and Technology Committee enquiry on
    Genomic Medicine. Preliminary conclusions and recommendations from the project

      Methods for non-invasive testing are developing rapidly for different applications
       and require close monitoring.
      Technological development and laboratory standardisation is required to ensure
       reliable and accurate results.
      Techniques need to be thoroughly evaluated and validated in a large number of
       patients to determine clinical accuracy; measures to allow prospective evaluation
       should be put in place as soon as possible.
      The requirement for validation means that non-invasive testing is unlikely to fully
       replace invasive testing in the NHS for some time.
      The impact of non-invasive testing for different purposes on current clinical
       pathways in antenatal care requires further consideration.
      Non-invasive techniques have the potential to replace current multistep Down
       Syndrome screening tests with a single diagnostic test.
      Careful consideration should be given to safeguarding patient autonomy and
       providing for informed consent.
      There is an urgent requirement for initiatives to boost health professional and
       public understanding of non-invasive testing techniques, their potential and
       limitations. This process should involve key professional bodies and reputable
       sources such as the NHS Direct website.

   For further information contact

Tay Sachs disease review

37. The PHG Foundation needs assessment and service review of the current screening
    programme for Tay Sachs disease (TSD) is essentially complete. Carrier screening
    for TSD in the Ashkenazi Jewish population was approved by NSC and funded as
    an NHS service in 1999; a national meeting on the screening programme held at
    Guy‟s concluded that review was necessary, to ascertain how it could be made more
    systematic and provide equity of access across the NHS.

                                                                       HGC08/P14 – PAGE 7

38. This project was undertaken in conjunction with Sara Levene and Chris Patch at
    Guy‟s Hospital on behalf of the National Screening Committee. The review includes
    carrier screening undertaken both within and outside the NHS in England, Wales,
    Scotland and Northern Ireland. The project also convened an advisory group
    including experts on clinical, laboratory and population screening aspects of TSD
    and representatives from Jewish religious and community organizations. The final
    report will be submitted to the NSC very soon, and will include an analysis of the
    demographics of the Ashkenazi Jewish population in the UK and the epidemiology of
    TSD; an overview of the available facilities and testing technologies available for
    TSD screening and information about how they have been utilized; stakeholder
    consultation on available services; and consideration of deficits in the service and
    how needs may evolve in the near future. Alternative models for screening
    programmes and their appropriateness for the UK will also be discussed, with the
    proposal of an effective screening algorithm.

For further information contact

Legal and regulatory issues

39. A major review of public international and EC legislation and guidance as it relates to
    human biomedical science is nearing completion. The PHG Foundation has also
    been active in responding to major consultations in recent months. The most recent
    of these was its submission on the Revised Codes of Practice to the Human Tissue
    Act, in which the Foundation raised concerns about the way in which the interface
    between the legal framework supporting coroners and the Human Tissue Act is dealt

40. The Foundation proposed that insufficient account was taken of the clinical needs of
    family members where inherited conditions may be implicated in the death of a
    deceased person. For example, in cases of sudden cardiac death the retention of
    samples from the deceased could be required to determine ongoing risks to
    surviving family members. The Foundation envisaged that problems could arise
    within existing systems, as coroners and their officers who are responsible for
    obtaining consent for the retention of tissue samples from family members may not
    understand the vital significance of samples from the deceased in establishing risk to
    at-risk relatives. Ideally the Foundation would like to see default retention of samples
    without the need for consent in these cases, but failing this it suggested that the
    issue should at least be highlighted, and appropriate access to specialist genetic
    advice made possible.

For further information contact

Association of British Insurers

41. The ABI participated at the HGC Direct Genetic Testing Seminar on 30 June. It
    continues to support the ongoing work of the HGC in the development of a
    framework of principles identified at the seminar.

                                                                       HGC08/P14 – PAGE 8

42. The Director General of the ABI, Stephen Haddrill, gave oral evidence to the House
    of Lords Science and Technology Sub-committee inquiry on 29 October.

ESRC Genomics Network – Cesagen

Research Agenda

43. Key findings from Phase One (2002 – 2007) of Cesagen‟s research agenda are
    available at

44. Phase Two of the Cesagen research programme for 2007-2012 builds on the
    collective pool of evidence and skills, and the evidence base created by Cesagen
    and its ESRC Genomics Network (EGN) partners in the first phase of funding.

45. Cesagen‟s research currently focuses on the following areas:
        Biomedicine, Identity and Behaviour
        Susceptibility Genes; Behavioural Genetics and Psychiatry; Health and
        Therapies and Enhancements
        Stem Cell; Tissue Engineering; Enhancement; Chimeras; Mitochondrial
        Bio-knowledge Economies, Publics, and Sustainable Innovations
        Knowledge Economies; Globalisation; Sustainable Innovation
    Methodological innovations and research on Publics and the Media sustain all three
    thematic priorities.

Sociomics Core Facility

46. Cesagen is actively developing research methods and techniques that are
    responsive to changes in the social, commercial and scientific landscapes of
    genomics and related biosciences. The Sociomics Core Facility acts as resource
    centre to support software applications and capacity-building in the application of e-
    infrastructures to our substantive programme of social science research on genomic
    biological and biomedical sciences. It develops software, applies existing analytical
    software tools to new ends, and supports the development of new modes of access
    to existing data sources such as patent databases.
    Key contact:

The Genomics and Identity Politics Workstream

47. This is a joint programme of events that bring together staff from across the ESRC
    Genomics Network to investigate how genomic and genetic knowledge and practice
    relate to the politics of identity. The collaboration takes the form of 5 workshops at
    the different centres, each of which concentrates on an aspect of genomics and

                                                                       HGC08/P14 – PAGE 9

   identity politics in a way that links to one of the flagship research themes of the host

48. The workshop “Constructing/Contesting Mobilizations: Biopolitics, Activism and
    Identity” at Cesagen, Lancaster University, on 27 June 2008 involved twenty-three
    participants from the ESRC Genomics Network and other leading academic centres
    in the UK and Canada, France, Ireland, and the United States.

49. The workshop aimed to examine three interrelated questions:
    How should we conceptualise forms of patient and public activism associated with
    health, medicine and science?
    Do these forms of activism entail the substantiation of new collective forms
    of identity?
    What challenges do these pose for thinking about politics and identity more
    The Workshop Report is available

50. The next workshop in this workstream is “The Genetics and Identity Politics of
    Parenthood and Family: We are Family?” to be held on the 19th and 20th February
    at Genomics Forum, The University of Edinburgh (organised by Innogen, The
    University of Edinburgh). The concluding conference “Genomics and Identity
    Politics” will be held on the 14 and 15 May 2009 at Egenis, University of Exeter.

Scottish Healthcare Genetics Public Engagement Network - Gengage

51. Gengage, the Scottish Healthcare Genetics Public Engagement Network, was
    established in June 2008. Its aim is to connect people who are working to enhance
    public engagement in healthcare genetics in Scotland. The creation of Gengage was
    one of the recommendations in the "Review of Genetics in relation to Healthcare in
    Scotland," chaired by Sir Kenneth Calman and published in 2006.

52. The Review recommended that a mechanism be established to pull together and
    coordinate the efforts already underway in Scotland to increase public awareness,
    dialogue and debate on issues to do with healthcare genetics. Gengage is this
    mechanism and has a role to "coordinate and facilitate activity in the important area
    of public engagement in genetics."

53. As a response to the review, Gengage's activities are funded by the Scottish
    Government Health Department. Gengage is managed by the ESRC Genomics
    Policy and Research Forum based at the University of Edinburgh.

54. The official launch of Gengage will take place on Tuesday, 9 December at a joint
    launch event at City Chambers in Edinburgh. The event will also launch the Genetic
    Interest Group's Patient Engagement Network. At the event, participants will have

                                                                      HGC08/P14 – PAGE 10

    the opportunity to contribute to a consultation on the Scottish Government's Patients'
    Rights Bill. The project‟s website ( is expected to go live on 10

For further information on Gengage contact

The Parliamentary Office of Science and Technology (POST)

55. The Parliamentary Office of Science and Technology is preparing a note (POSTnote)
    on Human Variation and Personalised Medicine. The note will examine the state of
    research into human variability in the post-genomic era, and how it may lead to
    increased 'personalisation' of medicine. Personalised medicine would potentially
    take account of human variation through the application of a number of factors:

   Family history and environmental influences, especially those of childhood
   Identity of particular genetic variants or biomarkers associated with disease
    susceptibility, and the strength of the association (or risk).
   Timing the screening, intervention or prevention of disease based on one‟s risk.
   Discerning between disorders with symptoms that appear similar or identical, but are
    associated with different genes or biological pathways and require specific
   Identify non-inherited or non-genetic changes for treatment (Mutations/DNA
   Predicting individual variation in response to medication to increase effectiveness or
    reduce adverse reactions.
   Tailoring of treatments through stem-cell therapies.

The note will also outline potential impact of personalised medicine on:

 clinical practice, including prospects and barriers to implementation policy issues arising
  from the public funding frameworks for this research.
 governance issues including ethical oversight, regulation of private personal genomics
  tests, and safety aspects.
 health economics, including pharmaceutical industry incentives for developing drugs
  with small markets.

56. It is expected that the briefing will be published in January 2009. It will be
    disseminated to Parliamentarians and other interested parties.

For further information contact Kesson Magid (

                                                                       HGC08/P14 – PAGE 11

                               International Developments

The following updates were received from Science and Innovation Officers at British
Embassies and High Commissions.


Plans to tighten regulations on late abortions

57. Members of the Bundestag (Lower House) of the Christian Democratic and Christian
    Social Unions (CDU/CSU) are planning to put forward a motion by the end of 2008
    to tighten regulations about late abortions. Under current legislation, women have
    the option to abort a child on the grounds of health hazards after the legal maximum
    period of 12 weeks for abortions, e.g. because of a severe depression or physical
    disorder. Women may thus abort children diagnosed with disabilities later than 12
    weeks into the pregnancy until up to shortly before expected birth.

58. The CDU/CSU would like to make it obligatory for physicians to counsel pregnant
    women, whose children have been diagnosed disabled. The motion will also
    propose a compulsory period of three-days for women to think about the options,
    before they take a decision. While the CDU/CSU concede that woman have a right
    to reject the counselling on the grounds of their right not to know, the physician will
    be obliged to offer counselling. The German Medical Association is reported to
    support this position.

59. According to data by the Federal Statistics Office, 117,000 abortions were registered
    in Germany, including 3,000 on medical grounds. Over 200 abortions were carried
    out later than 22 weeks into the pregnancies.

Think-tank recommends new regulatory framework for assisted reproduction in

60. The Friedrich Ebert Foundation, a Social Democratic think-tank, published a report
    in September 2008, benchmarking reproductive medicine in Germany against
    Sweden, the UK and other nations. The report sets out the state-of-the-art in
    assisted reproduction, the regulatory framework, current medical practices and
    effectiveness. The report also looks at the underlying ethical considerations in
    Germany. The German Embryo Protection Act (1990) currently limits the use of
    some assisted technologies. It rules that no more than three embryos may be
    created per treatment cycle and all embryos created must be implanted unless
    discarded for morphological reasons. But screening for the morphologically most
    promising embryo is not permitted in Germany.

                                                                      HGC08/P14 – PAGE 12

61. The report recommends creating a new regulatory framework covering the role of
    physicians, the application of assisted technologies, health considerations, informed
    consent and counselling, and the use of advanced assistive technologies. The
    report recommends establishing a federal agency similar to the UK's HFEA and a
    national register for assisted reproduction.         It also recommends regulating
    heterologue sperm donation and pre-implantation genetic diagnosis (currently
    banned in Germany). The authors of the report recommend the German Embryo
    Protection Act be amended, for instance, to enable (if possible elective) single
    embryo transfer to reduce the number of multiple births in Germany and to improve
    the success rate of assisted reproduction. As a result of this the storage of
    pronuclei, germ cells and surplus embryos will need to be reviewed and regulated.
    At present it is not permissible to generate and store surplus embryos in Germany.

Gene Therapy in Germany - Report by Berlin Academy of Sciences

62. In July 2008, the Berlin-Brandenburg Academy of Sciences (BBAW) published a
    report about state-of-the-art of gene therapy in Germany. It sets out the legal
    framework for gene therapy research, the main research trends and key indicators.
    The report is the fourth of a series of publications by the BBAW Interdisciplinary
    Working Group on Genetic Engineering. Previous reports focused on stem cell
    science, plant biotechnology and genetic testing. The main findings of the report on
    gene therapy, "Gentherapie in Deutschland (Gene therapy in Germany)", are:

(i)     Clinical trials: In 2005, a total of 45 clinical gene therapy trials were registered
        with the German Registry for Somatic Gene-Transfer Trials. With 5.5% of all
        clinical gene therapy research Germany is third only to the UK (11%) and the US
        (27%). Over half German clinical gene therapy trials are phase I studies, the
        remainder phase I/II (39%) and phase II (6%) trials.
(ii)    Disease areas: The majority German of gene therapy research focuses on
        oncology (74%) and HIV infections (22%). This focus on these two disease
        areas is above the international average.
(iii)   Gene therapy research funding: The main funding sources for gene therapy
        research are the German Federal Research Ministry €4.6 in 2002-2009) and the
        German Research Foundation (€4.4m in 2006), this includes €3.3m p.a. for a
        Collaborative Research Centre (Sonderforschungsbereich) on mechanisms of
        gene vector entry and persistence. German researchers were involved in 16
        European gene therapy projects funded under FP6.
(iv)    Industry: In Germany, 42 companies are involved in gene therapy R&D or
        production. They employ over 2,000 staff between them specialising in gene
        therapy projects.
(v)     Main conclusions::
         to continue to investigate the combination of gene therapy with other
          experimental or conventional therapies

                                                                       HGC08/P14 – PAGE 13

           to constantly benchmark the cost, risk and effectiveness of gene therapy with
            other approaches, such as preventative measures or small-molecule
           to ban gene doping and other genetic enhancement technologies, as at
            present the associated risks are not known nor can they be controlled
           to increase to public-sector funding for academic gene therapy research
           to encourage industry to remain committed to gene therapy trials in order to
            safeguard Germany's translational and clinical research capability.

New Genetic Diagnostic Commission

63. The draft GenDG includes the establishment of a new Genetic Diagnostic
    Commission based the Robert Koch Institute in Berlin. Commission members will
    be appointed by the Federal Health Ministry for a three year term.              The
    interdisciplinary membership will include 13 physicians and/or life scientists, two
    ethicists and/or lawyers and two representatives from patient and/or consumer
    groups. The remit of the commission will be to monitor the state-of-the-art of the
    science and technology of genetic diagnosis and to draw up guidance on genetic
    analysis, skills needed for genetic testing and counselling, genetic analysis, and
    quality assurance. The Genetic Diagnostic Commission will produce progress
    reports every three years (for the first time in 2012).

64. Key elements of the draft GenDG are:

(i)     Accreditation of test kits and labs Genetic test kits and labs offering genetic
        analyses will have to be accredited; the Federal Government expects most tests
        and labs already operate in line with ISO standards and guidelines developed by
        the German Medical Association. Estimated costs for accreditation will be
        €5,000-€7,000. The annual costs for monitoring some €1,500.
(ii)    Handling of genetic tests The draft GenDG restricts the application of genetic
        diagnosis and test results to physicians for predictive and medical purposes and
        adequately qualified experts for parent testing
(iii)   Information & counselling Physicians are required to provide comprehensive
        information prior to genetic testing and allow individuals adequate time for
        reflection before a decision on testing is taken; the discussion of the implications
        of test results and adequate genetic counselling is obligatory for predictive and
        prenatal testing and has to be recorded;
(iv)    Parent testing Genetic testing for genealogical purposes may only be carried
        out with the consent of the child, its legal representation and the legal parents.
        Fines for violations will range between €5,000 and €50,000.
(v)     Genetic testing in the workplace The GenDG bans employees from using the
        results of genetic tests as a basis for employment contracts. However,
        employees may be tested for genetic dispositions that increase their
        susceptibility to hazardous substances they handle at work or for conditions that
        may pose a hazard for third parties.

                                                                        HGC08/P14 – PAGE 14

(vi)    Genetic testing and insurance Insurers will not have the right to ask for the
        disclosure of results of genetic tests carried out prior or after insurance policies
        are taken out. The only exemptions are insurance policies of over €300,000 or
        annual rents of over €30,000.
(vii)   Associated costs Estimated costs arising from reporting and documentation
        requirements is some €1.7m. The cost associated with keeping test results for
        10 years (on the basis of 300,000 tests p.a.) is an estimated €180,000 annually.

65. The German government began to look into a regulatory framework for genetic
    testing several years ago. Progress was delayed by some stakeholder resistance
    and early elections in 2005. With some 300,000 tests carried out each year (and
    rising) and 650 laboratories offering genetic testing in Germany, the Federal
    Government felt a need to regulate this area. The draft law is may also be seen as a
    response to an earlier, more restrictive draft legislation submitted by the opposition.

66. The publication of the draft GenDG was covered widely in the TV and print media.
    An editorial in Sueddeutsche Zeitung, Germany's largest broadsheet, mentions that
    neither physicians nor insurers are happy with the draft law. The latter criticise that
    the law denies them access to information on a genetic disposition an individual may
    already have prior to seeking private health or life insurance. This would create an
    asymmetry of information disadvantaging insurers. Physicians on the other hand
    criticise that the draft Act is based on a too narrow definition of genetic diagnosis
    and does not cover other processes that may produce information on an individual's
    genetic disposition, for instance, the medical family history.

67. It is not clear what the implications of the GenDG are with regard to over the counter
    (OTC) test kits - the Federal Government has indicated it may make prescriptions for
    these obligatory. It is also not clear what the implications of the GenDG are for
    providers of test kits and analytical services.

68. And it remains to be seen whether the draft GenDG will make it through the
    legislative process before the summer recess and next federal elections, due in
    September 2009.

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Amendments to Germany's Stem Cell Act

69. On 11 April Bundestag passed the relaxation of Germany's stem cell regulations by
    346 votes to 288. The CDU/CSU (Christian and social democrats) and SPD (social
    democrats) were split over the issue. The Greens unanimously rejected the bill, and
    the FDP (liberals) advocated complete liberalisation. Leading CDU personalities,
    including Chancellor Merkel and Research Minister Schavan, supported the
    amendment, as did a majority of SPD parliamentarians. Before coming into force,
    the law needs to get through the Bundesrat (Upper House), where it might face
    resistance from the CDU/CSU. This could delay its coming into force.

70. The new regulations give German scientists access to hES cell lines created before
    1 May 2007, about 500 cell lines, compared with the current 20 or so. The law's
    validity has been clarified and criminal charges may only be raised for unlawful
    activities in Germany. This paves the way for international collaboration by German

71. The compromise gives German scientists access to better quality hES cells and
    buys time to develop alternative methods for generating pluripotent cells. But the
    new cut-off date still denies them access to clinical-quality stem cell lines, once
    these become available. This might eventually undermine the compromise and
    prompt another review of the law.

72. The development of hES cell lines from embryo cells remains prohibited in
    Germany. However, German scientists may join research teams abroad to work on
    cells developed after the cut-off date. There will now be scope for more
    collaboration between German and British researchers in the field. At present there
    are only about ten research groups in Germany working on hES cells. The German
    Research Foundation (DFG) expects it may take another five years to double this
    number, as young scientists start to enter the field. DFG also expect a surge of
    applications for import licences, as scientists seek to repeat current experiments with
    better quality lines.

New German Ethics Council (DER)

73. The members of the new German Ethics Council (DER) were appointed in February
    2008. DER replaces Germany's National Ethics Council (NER). NER was dissolved
    in September 2007. A new national advisory body on ethics was appointed earlier
    this year, the German Ethics Council. The 26 members of Germany's new German
    Ethics Council (DER) were appointed on 13 February. The new body has a similar
    remit to its predecessor, however, the appointment of members follows different
    rules. One half of the members of the German Ethics Council were appointed by the
    Parliamentary Party groups in the German Bundestag, the other by the Federal
    Government. About half of the appointees have been members of the previous

                                                                      HGC08/P14 – PAGE 16

74. When then Federal Chancellor Schröder appointed his National Ethics Council
    (NER) in 2001, he was heavily criticised for appointing a group of „yesmen‟ to justify
    the liberal approach of his government to biomedical issues, including stem cells.
    Despite producing highly regarded position papers and balanced recommendations,
    the objectivity of the NER was criticised, undermining the advisory body's work

75. The remit of the new German Ethics Council is:

      To inform the wider public in Germany and foster open debate, inviting all
       relevant societal and stakeholder groups to get involved
      To develop positions and draw up recommendation for policy-makers and
      To work closely with national ethics advisory bodies abroad and in international
      To organise at least one public event on bioethical issues in the life sciences, in
       addition to public evidence sessions, regular meetings and other public events.
      To produce positions on the basis of the German Ethics Council own decision
       and in response to requests by the German Parliament and the German
      To produce an annual update on the activities in the business period covered
       and the current position of the ethical debate in society.

76. In May 2008 the DER decided on a range of topics for further enquiries. In contrast
    to its forerunner, DER's terms of reference have been broadened to include all areas
    of the life sciences, including nutrition. The topics DER will address over the next
    months include:

      Anonymous birth/baby boxes
      Research on genetic chimeras
      Public health nutrition
      Nursing services for old and disabled persons
      Resource allocation in public health
      Cosmetic surgery of minors
      Practice of assisted reproduction in Germany
      Pharmacogenomics
      Neurosciences/neuroethics
      Interdiction of commercialised/organised assisted suicide in Germany


77. There was a fair amount of debate last year when the French government voted to
    amend the immigration law. One of the most controversial proposals was to
    implement DNA testing, at the cost of the individual, to verify family ties when
    immigrants were applying for family to join them in France (particularly mother-child
    relations). This proposal was eventually reduced, without being completely removed
    from the final document. In June 08, AFP reported that the Immigration Ministry had

                                                                      HGC08/P14 – PAGE 17

   named 9 countries of whose nationals could be subject to testing under certain

78. The French are planning to review their bioethics law in 2009. On 22 November, the
    BMJ published an article on French regulations relating to disclosure information on
    genetic conditions to relatives (Annex B). This is being discussed as part of the
    review of the law.

The Netherlands

Pre- implantation diagnostics debate in The Netherlands

79. In The Netherlands pre-implantation genetic diagnostics is being performed mainly
    at the academic hospital of Maastricht. Earlier this year the procedure became
    controversial as the Junior Minister of Health, Bussemaker, approved diagnostic
    testing and ability to prevent implantation of embryos which carried genes that were
    proven to increase the chance of developing certain types of cancer. Governmental
    debates flared up as she approved it single-handedly without putting it through
    Government and she escaped a vote of non-confidence by retracting the letter to
    Government, researching the procedure again and writing a new letter to

80. In The Netherlands for approximately 30 diseases pre-implantation diagnostics is
    being used, but this remains a topic of debate and will stay like that till the end of
    term of this Cabinet (2011).

Genetic “fun” testing

81. Minister Bussemaker stresses people not to do “fun” genetic tests online. “Dutch
    companies are not allowed to offer these tests and this is for a reason”, Minister
    Bussemaker says. Her opinion is that tests should only be done for diseases, which
    can be treated.

Genetic discrimination

82. The topic of genetic discrimination is being discussed in Dutch Government and
    amongst the Dutch public. Verbal agreements have been made to prevent the
    misuse of genetic information, though no specific law is set down yet concerning this
    topic. Research projects at the Netherlands Organisation for Sciences regarding
    genetic discrimination are being conducted.


Forensic use of DNA

                                                                     HGC08/P14 – PAGE 18

83. Although Italy has decided to finally implement the European Prum Treaty, the
    national DNA bank has not yet been created and the draft law which should regulate
    the National Genetics Archive is currently under discussion in the Senate. According
    to this draft bill, biological samples will be taken and kept only for crimes of a
    particularly serious nature and will not be used to provide any information on
    possible illnesses or gather any other genetic sensitive data.

Developments in genetic testing

84. As far as genetic testing is concerned, the Mendel Scientific Institute directed by
    Prof. Bruno Dallapiccola, in collaboration with the Italian Society of Human Genetics
    (SIGU), has just presented a report entitled “Genetic Tests and Genetics Structures
    in Italy”. Over the last three years, genetic tests have increased by 30%. Tests were
    carried out in the Northern regions (Lombardy scores 22-24% of the activities at a
    national level). In addition, only 12% of the structures located in the South are
    certified according to quality criteria, while this percentage reaches 64% of centres
    based in the North.

85. The report highlights that many tests are carried out with no particular medical need,
    in structures which are often too small to be able to guarantee appropriate quality
    control. There are 388 diagnostic laboratories of cytogenetics and immunogenetics
    and 102 genetic clinics.

86. Last year 560,000 tests were carried out, while over the same period specialist
    genetic visits were just over 70,000. The number of centres is raising at such a rate
    way over the European trend. So there is definite proliferation of small centres, with
    low quality and high costs.

87. External quality controls are not compulsory and only 40% of the centres take part in
    them. However, according to the President of SIGU, the future goal is to have
    specific quality controls administered by an external international authority based on
    international guidelines.

88. It is also important to be vigilant to the threat of a possible increase in the future of
    the inappropriate use of genetic testing, for example, carried out via the Internet. It is
    therefore urgent to invest in the clinical training of the people who prescribe the

89. Welfare Undersecretary Eugenia Roccella agrees about the need to counteract the
    danger of using genetic test inappropriately and stresses the importance of
    undertaking public opinion information campaigns.


90. The Public Population Project in Genomics (P3G), based out of Montreal, is an
    international consortium designed to encourage effective collaboration between

                                                                        HGC08/P14 – PAGE 19

   biobanks. Last year the project received C$34.5million additional funding. On 10 and
   11 November the P3G held its General Meeting, which preceded the American
   Society of Human Genetics meeting. Highlights of the meeting included:

       Ethics of GWAS
       Nutritional Biomarkers
       The Future of Open Access Databases
       A Roadmap for Biobanking Guidelines?
       Population based biobanks versus tissue banks?
       Models of Governance

   The detailed meeting agenda is available on the P3G website

91. Information on Canada‟s DNA database can be found on the National DNA
    databank website which is updated every 2 weeks (


BioBank Japan

92. The Ministry of Education, Science, Sports, and Culture (MEXT) launched a project
    in 2003 to promote personalised medicine. This project is led by two main genome
    research institutes in Japan – the Institute of Medical Science at the University of
    Tokyo, and the RIKEN Genome Research Center (dissolved in March 08), as well as
    10 other institutes and hospitals. Around 300,000 donor‟s DNA and blood samples
    are stored and managed at BioBank Japan, established in the Institute of Medical
    Science. Data and samples collected are protected by multiple methods including

93. After strict inspection samples are shared with other research institutions including
    public organisations. Clinical information of each sample is not disclosed. Raw data
    that has gone through typing analysis will not be distributed. Judgement on whether
    or not a research can be justified ethically is entrusted to the research
    institute/organisation‟s ethics committee. Research institutes/organisations should
    dispose of any unused/left over samples directly after the research.

Guidelines for handling personal genetic information

94. The personal genetic information protection guideline established in April 2005
    requires organisations that handle (examine, analyse etc.) personal genetic
    information to set up a committee to inspect and judge whether or not a task can be
    justified from the scientific, ethical, forensic, social, technical perspectives. The
    guideline is overseen by „Inspection Committee for the handling of personal genetic

                                                                    HGC08/P14 – PAGE 20

   information‟ which can advise the organisation to change or call            off the plan.
   Members of the committee should be able to inspect candidates               from multiple
   angles in a fair and neutral standpoint. If an organisation is unable       to set up the
   committee, they can entrust the inspection to a committee set                up in other

UNESCO International Bioethics             Committee     (IBC)    and   Intergovernmental
Bioethics Committee (IGBC)

95. A joint session of the UNESCO‟s International and Intergovernmental Bioethics
    Committees was held in Paris from 30 to 31 October. The main issues discussed
    were a report from the IBC Working Group on Human Cloning and International
    Governance and the IBC draft report on Social Responsibility and Health.

96. The working group on human cloning concluded that UNESCO should draw up a
    new Convention for the prohibition of human reproductive cloning. This was
    opposed by the UK and US among other delegations on the basis that any
    Convention incorporating a definition that satisfactorily distinguishes reproductive
    and non-reproductive cloning in the way intended by the Working Group is unlikely
    to satisfy those who are of the principled conviction that all cloning that results in the
    creation of an embryo is already reproductive cloning (not just the deliberate attempt
    to produce a live-born human child with a genome identical to that of another
    individual, whether living or dead).

97. The draft report on social responsibility is intended as an elaborate Article 14 of the
    Universal Declaration on Bioethics and Human Rights. The report is currently
    incomplete and lacks conclusions. However, it provides a useful survey of the
    possible content of the concept of social responsibility from philosophical and legal

Other recent international items of information

98. The United States Coalition for Genetic Fairness (a coalition consisting of civil rights,
    patient and health care organizations, but was expanded in 2005 to include industry
    groups and employers) has published a guide to the Genetic Information
    Nondiscrimination Act. The guide provides a functional outline of GINA's protections
    to help clarify how the Act impacts on individuals and families.

                                                                          HGC Secretariat
                                                                          December 2008

                                                                        HGC08/P14 – PAGE 21


Annex A – France must say how genetic data are passed to patients’ relatives
           (BMJ, 22 November 2008) (not included in public papers but can be
           accessed at

                                                           HGC08/P14 – PAGE 22