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					                                                                       HGC10/P12

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                          HUMAN GENETICS COMMISSION

                               SECRETARIAT REPORT

                                   Paper HGC10/P12


   Purpose

   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 Parliament

   House of Lords Science and Technology Select Committee

   2. The House of Lords Science and Technology Select Committee has
      appointed a sub-committee, chaired by Baroness Neuberger, to investigate
      the use of behaviour change interventions to achieve policy goals. The inquiry
      will examine our current state of knowledge about what interventions can
      effectively influence behaviour, how behaviour change interventions which
      have been designed on the basis of that knowledge can be used to achieve
      policy goals, and what factors should be taken into account by government in
      determining whether a particular behaviour change intervention is
      appropriate. It will look at the evidence base that supports current behaviour
      change interventions and at the effectiveness of those interventions.

   3. The committee will conduct two case studies as part of the wider inquiry. The
      first case study will look at the use of behaviour change policy interventions to
      tackle obesity. The topic of the second case study will focus on community-
      based intervention and will be announced in October 2010.

   4. The committee invites evidence on questions in relation to research and
      development, translation, policy design and evaluation, cross-government
      coordination, ethical considerations and international comparisons.




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5. Commissioners may wish to discuss whether they should to respond to this
   consultation. Commissioners may wish to consider, for example, if pre-
   symptomatic genetic tests create behavioural changes, making individuals
   become fatalistic or whether they may reinforce positive behaviour. The
   deadline for submissions is Friday 8 October 2010. The call for evidence is
   attached at Annex A.


         UK Government Health and Science Policy Related Issues

Department of Health

6. As a result, of the Government‟s review of arm‟s length bodies the Human
   Fertilisation and Embryology Authority (HFEA) and the Human Tissue
   Authority (HTA) will be retained as separate arm‟s length bodies for the time
   being, with the aim of transferring their functions by the end of the current
   Parliament. In the meantime, the Government will examine the practicalities
   (and legal implications) of dividing the HFEA‟s and HTA‟s functions between a
   new research regulator, the Care Quality Commission and the Health and
   Social Care Information Centre.


Department of Health NHS Genetics Team

House of Lords Science & Technology Committee Inquiry into genomic medicine
– Government Response

7. The House of Lords Science and Technology Committee appointed a sub-
   committee, chaired by Lord Patel, to assess the use of genomic technologies
   and their impact on clinical practice in the post-genomic era.

8. The Committee published its report on 7 July 2009. The Government
   Response to the House of Lords report was published on 14 December 2009.
   At a House of Lords debate on 9 June 2010, the response was generally
   positive with Lord Patel particularly encouraged that the Carter Review
   recommendations for pathology services would be taken forward. However,
   there was some disappointment that the Department would not commit to a
   new White Paper on genetics. The Lords also agreed that the establishment
   of the Human Genomics Strategy Group was a positive step forward, keeping
   the UK at the forefront of research in this area. However, some concern was
   expressed at the ability of the HGSG to drive change.

Human Genomics Strategy Group (HGSG)

9. The Government response to the House of Lords Genomic Medicine Inquiry
   announced the establishment of the Human Genomics Strategy Group
   (HGSG). Professor Sir John Bell has accepted the invitation to Chair the


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   group. The HGSG will be supported in the delivery of its work programme by
   three Working Groups covering the themes of; Innovation; Service
   Development; and Education, Engagement and Training. Sir John Burn,
   (National Institute for Health Research, Genetics Committee) Dr Ian Barnes,
   (National Clinical Lead for Pathology, Department of Health) and Prof Charles
   Easmon, (Chair, National Genetics Education Development Centre, and
   Board Member, Health Protection Agency) are Chairing these respectively.
   Members have been invited to join the Working Groups and they are currently
   identifying the key priorities they will be focussing on. The Working Groups
   are scheduled to meet in September, with the second HGSG meeting
   scheduled for the 19th October 2010.

NHS Genetics Education and Development Centre 2009 – 2014 Contract

10. Following the Department's tender exercise, the contract has been retained
    by Birmingham Women‟s NHS Foundation Trust. The new contract will run
    from September 2009 to end of August 2014. The Department has recently
    reviewed its contract with the NEGDC and identified key priorities in the
    coming years which have now been agreed.

Laboratory trainee posts – Modernising Scientific Careers (MSC)

11. The Department has renewed its commitment to developing and supporting
    NHS genetic services with funding for the above pilot scheme already
    secured for this year. The upcoming October 2010 cohort of new trainee
    scientists, is being funded by the Strategic Health Authorities. There have
    been positive feedback from students and the recommendations from an
    external evaluation of the pilot scheme has been implemented. The MSC has
    set up a newsletter which has a wide circulation.

Genetic Counsellor 50:50 Scheme

12. The Department has provided funding for the first year (2009/10) of the new
    scheme, which will see the DH meet its White Paper commitment to fund over
    50 genetic counsellors trainees. This is a transitional scheme, with Trusts in
    which the trainee is being employed, funding the second year (2010/11). In
    future, it will be a decision for NHS Trusts to make local arrangements for
    genetic counsellor trainees. In October, genetic counsellor trainees are due
    to be appointed, with Central Manchester University Hospitals NHS
    Foundation Trust providing finance administration for the scheme and
    distributing the funds to the Trusts in which the trainee counsellor is being
    employed.




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                           DH-sponsored Organisations


Human Fertilisation & Embryology Authority (HFEA)

13. At its meeting in September, the Authority will be considering minor
    amendments to its process for handling applications to carry out PGD. This
    will include guidance to applicant clinics and to the licence committee on the
    use of OMIM numbers and a guide for the licence committee on how to
    satisfy the seriousness and significant risk test in the legislation.



Gene Therapy Advisory Committee (GTAC)

14. So far this year GTAC has reviewed a smaller number of new applications for
    gene therapy research than in previous years. However to counteract this
    downward trend, the Committee has also been involved in reviewing several
    represented applications. It is a requirement under the Clinical Trials
    Regulation for the Committee to review any previously approved application if
    the study had not commenced within two years. Quite often researchers must
    receive regulatory approval for a study in order to secure funding grants.
    Once the funding has been secured researchers can experience a variety of
    delays, usually due to the complex process in manufacturing the vaccine and
    ensuring it meets all the required standards under Good Manufacturing
    Practice requirements. Re-review of such studies is necessary to ensure that
    there is still an ethical need for such research which had not been
    superceded by another approved clinical treatment in the intervening years.

15. GTAC also reviewed two requests for compassionate use of gene therapy
    investigational drugs. Both applications were for patients with advanced
    disease but who did not meet the entry criteria into the corresponding study.
    Once the Committee had satisfied itself that all other treatment options had
    been explored as well as being fully informed of the patient's medical history,
    it was content to approve both applications. Such applications are extremely
    rare and the previous application was received five years ago.

16. The Gene Therapy Advisory Committee has also been involved in reviewing a
    number of pre-clinical presentations from researchers who are on the
    threshold of moving their animal research into the clinic. These presentations
    afford the Committee the opportunity of giving informal feedback to assist the
    applicants in identifying any issues to consider before moving the research
    into patients.

17. The Committee reviews consultations by other groups on a regular basis. Of
    particular interest to GTAC members currently, is the Academy of Medical




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   Sciences most recent call for evidence, which is part of the Academy‟s
   ongoing review of the regulation and governance of medical research.




                      Activities of Other UK Organisations

Association of British Insurers

18. ABI members 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 HGC MGGI report on the
    insurance industry‟s 2008 annual compliance exercise has been published.
    The ABI is compiling the 2009 report.


ESRC Genomics Network

Cesagen

19. Researchers from Cesagen have been involved in a collaborative project with
    the Wales Gene Park and Techniquest, which culminated in an art exhibition
    at BayArts, Cardiff in May 2010. This event showcased artwork produced by
    young people who had participated in the public engagement project, funded
    by the Beacon for Wales, which explored social and ethical issues related to
    the concept of “The $1000 Genome”. Some of the artwork will also be
    exhibited at the British Society for Human Genetics conference, University of
    Warwick, 6-8 September 2010. http://www.engagingwales.org/the-1000-
    genome

20. Cesagen is organising a workshop on “Microbiology, genomics, and beyond:
    Regulating dual use technologies into the 21st century”, to be held at The
    Wellcome Trust Conference Centre, London, 17 September 2010. Email
    Professor Adam Hedgecoe hedgecoeam@cardiff.ac.uk

21. Cesagen Director and Chair of the Human Genome Organisation‟s Ethics
    Committee, Professor Ruth Chadwick, is leading a working group to produce
    a HUGO White Paper on whole genome sequencing. This work is being
    supported by a grant from the Brocher Foundation in Geneva where the
    working group will meet in December. Email Ruth Chadwick
    ChadwickR1@cardiff.ac.uk

Egenis

22. A new Egenis research project will examine the impacts of direct to
   consumer access to genetic tests for serious psychiatric disorders. The


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   project, funded by the ESRC and the Netherlands‟ NWO, is a collaboration
   between Egenis and the Virtual Knowledge Studio at the University of
   Maastricht.
   http://www.genomicsnetwork.ac.uk/egenis/news/title,23549,en.html

23. A symposium proposed by Egenis researchers has been accepted by the
    prestigious Brocher Foundation in Geneva. “New developments in non-
    invasive prenatal genetic testing: Ethical, legal and social implications”,
    proposed by Dr Susan Kelly and Dr Hannah Farrimond, will take place with
    30 invited participants at the Foundation in November 2011. Email
    s.e.kelly@exeter.ac.uk

24. Egenis Deputy Director Dr Christine Hauskeller organised a panel discussion
    “Practices of peer reviewing and their influence on research” at the UK
    National Stem Cell Network conference, Nottingham, July 2010. She also
    spoke in the workshop “Beyond the lab: Social science analysis of innovation
    in regenerative medicine”. Email c.hauskeller@exeter.ac.uk


Innogen

25. A new book exploring contemporary understandings of nature has been co-
   edited by Dr Sarah Parry (Innogen) and Egenis Director Professor John
   Dupré. “Nature after the genome” is a collection of essays on issues such as
   synthetic biology, agricultural biotechnology, stem cell research and
   biodiversity by academics including Dr Jane Calvert (Innogen), Dr Claire
   Waterton (Cesagen) and Professor Barry Barnes (Egenis).
   http://eu.wiley.com/WileyCDA/WileyTitle/productCd-1444333968.html

26. The Wellcome Trust funded Scottish Health Informatics Programme (SHIP)
    has recently appointed Dr Mhairi Aitken as Research Fellow within the Public
    Engagement strand. There will be a two year programme of work researching
    public views about data linkage, use of electronic patient records for research
    purposes, and engaging publics in governance policy. http://www.scot-
    ship.ac.uk


Genomics Forum

27. The Forum is seeking applicants for its Bright Ideas Programme, which
   allows visitors to spend up to 2 months working in residence at the University
   of Edinburgh. They offer funding for work that can contribute to the Forum‟s
   objectives of bringing different stakeholders into dialogue around social,
   ethical and regulatory implications of biotechnology and life science.
   http://www.genomicsnetwork.ac.uk/forum/people/brightideasfellowshipsandre
   sidencies/



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28. The Forum is delighted to announce a brand new writing competition on
    „Humanity+poetry‟. Budding poets are invited to submit an unpublished poem
    of no more than 50 lines on the theme of „improving the human‟ before the
    deadline of 7 October 2010 (National Poetry Day). First prize is £500.
    http://www.genomicsnetwork.ac.uk/esrcgenomicsnetwork/news/latestnews/titl
    e,23732,en.html

29. The 2010 Genomics Network Conference will be held in Paris, 6-7 December,
    in collaboration with the OECD Global Forum on Biotechnology. The meeting
    is by invitation only but details of sessions and presentations will be available
    in due course at www.genomicsnetwork.ac.uk/forum/conference2010. Email
    toni.freitas@ed.ac.uk


NIHR Manchester Biomedical Research Centre (BRC) – Specialist BRC in
Genetics and Developmental Medicine

30. With an impressive track record of turning scientific breakthroughs into
   clinical practice, in April 2008 Manchester was appointed one of the nation‟s
   12 flagship Biomedical Research Centres. Set up by the National Institute for
   Health Research (NIHR), Biomedical Research Centres drive innovation and
   accelerate the translation of biomedical research into NHS practice. The
   Manchester BRC is uniquely designated as the specialist centre of excellence
   in genetics and developmental medicine. Bringing together the combined
   forces of The University of Manchester and Central Manchester University
   Hospitals NHS Foundation Trust, they aim to move research ideas efficiently
   from the laboratory, through clinical trials and into the Trust's five hospitals.
   They work to bring benefit locally to patients, nationally to the wider NHS and
   internationally to a global audience. With £7.5million awarded by the NIHR, in
   addition to £13.5 million funding from the Northwest Regional Development
   Agency, they have been able to significantly invest in research projects and
   infrastructure. They aim to continue developing first-class facilities, use the
   latest technologies available, generate substantial grant funding and attract
   the world‟s leading researchers.

Highlights of some of their current research

Genetic testing in minority populations


31. Manchester BRC have been working with families from the British Asian
    community where intrafamilial marriage has a higher frequency than other
    populations. They provide, through a Department of Health initiative,
    dedicated genetic counselling to this community. This has lead to
    collaborations with colleagues across the world including Spain, Turkey,
    Israel and Iran. Recent discoveries include the identification of the genes



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   responsible for renal, neurological and ocular problems and have lead to
   improved management of patients from this disadvantaged population.

   Treatment and diagnosis of cleft lip and palate

32. BRC scientists secured a grant of £2.5m in early 2010 from the Healing
    Foundation to establish a National Centre for Cleft Research. Manchester is
    at the forefront of clinical trials in this area and is a world-leader in research
    into the genetics of cleft lip and palate.

   Centre for Advanced Discovery and Experimental Therapeutics (CADET)

33. CADET is a new research facility that currently houses six mass
    spectrometers in recently refurbished laboratories. The central remit of
    CADET is to use proteomic and metabolomic strategies to discover new
    therapeutic targets for treating major causes of morbidity including diabetes,
    cardiovascular disease and dementia.

   Cancer genetics/Pharmacogenetics

34. BRC researchers continue to play a key role in developing UK Cancer
    Genetics, including nationally commissioned services for complex
    neurofibromatosis type one (NF1) and two (NF2) and management and
    screening of familial breast cancer.

   Dyscerne Project for Diagnosis of multiple anomaly syndromes

35. Dyscerne has now reviewed over 100 cases of rare multiple anomaly
    syndromes worldwide, using the innovative concept of a secure web-based
    system for diagnosis of rare syndromic disorders. Information is uploaded to
    the secure site along with appropriate images, for review by a panel of around
    30 expert international reviewers (www.dyscerne.org).


Nowgen

Public engagement and patient involvement

Implementing the PPI strategy for the NIHR Manchester NIHR Biomedical
Research Centre (BRC)

36. Nowgen has developed the PPI strategy for the Manchester BRC and it has
   now has been agreed by the Senior Team at the Manchester BRC. An action
   plan has been drawn up, which includes: conducting a mapping exercise with
   researchers regarding the way they involve patients in research, delivering a
   training programme for both researchers and publics, and improving the BRC
   website to allow publics/researchers to find out more about BRC programmes
   and enable them to get involved.


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Creative Strand for Manchester Science Festival

37. Nowgen is part of a consortium funded by The Wellcome Trust to develop a
    creative strand exploring human enhancement for the Manchester Science
    Festival. This project brings together a vibrant team of young people,
    scientists, ethicists and artists to explore this theme and hear about the latest
    biomedical research. The young people will develop performances (such as
    street dancing and science busking) that will get the public thinking about the
    ways in which they might potentially improve their brains and bodies in the
    future. The project will culminate with public shows in shopping arcades and
    trains stations during October‟s Festival this year.

Citizen’s Jury on cell-free fetal DNA for non-invasive prenatal diagnosis

38. Nowgen is planning a Citizens‟ Jury of young adults to explore the social,
   legal and ethical implications of the use of cell-free fetal DNA for non-invasive
   prenatal diagnosis. A group of 16-19 year olds will be recruited to participate
   in a „trial‟ that will take place at Manchester Crown Court over four days in
   April 2011. A pilot study was conducted with a group of A-level students, and
   expert witnesses from a range of perspectives have confirmed their interest in
   taking part. The jury will be facilitated by a Regional Participation Officer from
   the Youth Work Unit with specific expertise in health care. The
   recommendations of the Citizens‟ Jury will be disseminated at a launch event
   and in a report sent to all stakeholders.

Working with ‘Jeans for Genes’ charity

39. Nowgen has collaborated with the charity „Jeans for Genes‟ to develop a
   suite of educational resources for school pupils. The Wellcome Trust has
   recently funded a partnership between Nowgen, Jeans for Genes and The
   Sickle Cell Society to create films and worksheets that will help school pupils
   understand more about living with sickle cell anaemia. These creative
   educational resources help pupils empathise with those affected by genetic
   conditions and understand more about the science and broader societal
   issues.

‘Looking Forward’ Project’

40. Nowgen has been awarded £29,500 by the Wellcome Trust People awards to
    create an educational arts resource about gene therapy with Cystic Fibrosis
    patients. This innovative project will bring together researchers, teenage
    patients, artists, clinicians and teachers to develop a new information
    package. The resource will be used to help people understand the latest
    information on gene therapy trials.

Nowgen Schools Genomics Programme (NSGP)




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41. The aim of this Wellcome Trust funded project is to narrow the gap between
    genomics research and classroom genetics through curriculum development,
    resource provision and direct delivery to secondary school students. Since
    March 2010 Nowgen have worked with „Teachers‟ TV‟ and Glasshead
    Productions to produce three programmes (for GCSE and A-Level students
    and teachers) about modern genetics in medicine. The programmes will be
    launched at the Wellcome Trust in September 2010. They are available to
    view at: http://www.teachers.tv/series/genetics-and-medicine. Nowgen are
    working with Gengage (The Scottish Healthcare Genetics Public Engagement
    Network), the Scottish Qualifications Authority and the Scottish Schools
    Equipment Research Centre (SSERC) to extend the work of NSGP to
    Scotland. They have recently started the research strand of the project which
    aims to investigate how best to influence change within education. Over 450
    teachers from across the UK responded to their initial survey and they
    achieved a 15% sign up rate for further in-depth interviews with teachers and
    students.

‘Question of Taste’ workshops

42. Almost 1100 post-16 students have now attended this practical workshop in
    the teaching laboratory at Nowgen. They are using molecular genetics
    techniques to investigate human and chimpanzee evolution. Students use
    research-quality equipment to analyse their own DNA and understand how
    changes in DNA sequence affect human characteristics. This new workshop
    has been developed by Nowgen in collaboration with two other science
    centres and is funded by The Wellcome Trust to celebrate Darwin200. Their
    evaluation shows that 99% of teachers would bring a group of students again
    and over 95% of students would recommend the workshop to their peers. A
    full evaluation report will be published shortly on the Nowgen website.

Professional Training

43. Nowgen runs a comprehensive programme of training in all aspects of
    genetic medicine for healthcare and other professionals. They are pleased to
    announce Nowgen‟s first pharmacogenetic based course in the area of
    oncology which we have developed in partnership with Dr Bill Newman of
    Central Manchester University Hospitals NHS Foundation Trust. Training
    Courses planned for 2010/2011 include:

         Familial Breast Cancer Risk Assessment Course, 21 September

         Bioinformatics for Cytogeneticists and Molecular Geneticists, 13-14
          October

         Bioinformatics for Clinical Geneticists, 18-19 October

         Molecular Genetics for Genetic Counsellors, 9-11 November


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          An Introduction to Oncology-based Pharmacogenetics, 9 December

          Genetic Research and the REC Review (with National Research Ethics
           Service), 6 Jan

          Bioinformatics training for Next Generation Sequencing Provision, TBC

          Familial Bowel Cancer Risk Assessment Course, TBC

          An Introduction to miRNA and siRNA (with ABI), TBC

          An Introduction to Q-PCR (with ABI), TBC

Research

Genetic counselling information in British Sign Language (BSL)

44. This NIHR doctoral research investigates one component of Deaf people's
    barriers to accessing genetic counselling services: the translation of genetic
    terminology. The qualitative methodology seeks Deaf people's perspectives
    on preferred terminology and format for information resources. Innovative
    online data collection methods have been developed which allow participants
    to respond to questions in BSL via webcam, capturing the resulting video files
    remotely to a secure server.

Empowerment: developing a robust instrument to measure patient benefits from
clinical genetics services.

45. Dr Marion McAllister is in the final year of a 3-year MRC-funded Special
   Training Fellowship in Health Services Research at the University of
   Manchester, hosted in the Nowgen Centre. The overall aim of Marion's
   research is to develop a reliable and valid Patient Reported Outcome
   Measure to capture Empowerment. This is based on previous DH-funded
   qualitative research conducted at Nowgen between 2003 and 2007. An
   experimental version of the Genetics Empowerment Scale (GES-24) is to be
   used in a service evaluation in Glasgow beginnning in summer 2010.

Invited speaker

46. “Working together to improve clinical genetics services in the UK”. Invited
   presentation at Genetic Alliance UK annual conference 2010 “Giving patients
   a voice in the heart of debates”, London, June 2010 “Patient empowerment in
   clinical genetics services: Development of a new Patient Reported Outcome
   Measure”. External departmental seminar, Department of Health Sciences,
   University of York, 10 March 2010

European Projects- Orhpanet



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47. Nowgen continues to manage the UK and Ireland office of Orphanet.
    Orphanet is the largest international online resource on rare diseases,
    including 5857 diseases, an encyclopaedia covering 2867 rare diseases, an
    inventory of orphan drugs and a directory of specialised services in 37
    countries, including clinics, medical laboratories, research projects, clinical
    trials, registries and patient organisations; Orphanet provides accessible and
    accurate information on the diagnosis, care and treatment of rare diseases.
    www.orpha.net


Gengage

48. In April, Gengage (the Scottish Healthcare Genetics Public Engagement
    Network) held a deliberative event entitled 'What should happen to your brain
    after you die?' as part of the Edinburgh International Science Festival. The
    report of the event (mentioned in our last submission) is now available on the
    Gengage website at: http://www.gengage.org.uk/publications-
    events.php?id=3

49. In June, Gengage held its Second Annual Conference. This year‟s
   conference focused on genetics education in Scotland, bringing together
   biology teachers, upper year students and Gengage members for a day of
   talks and interactive workshops. The plenary presentations addressed current
   and future trends in genetics, including the effects genes have on our health;
   the development of a treatment for Pompe disease (recently fictionalised in
   the Harrison Ford film, Extraordinary Measures); and the implications of
   technological developments for the patient attending a genetic clinic. A series
   of interactive workshops provided an opportunity for participants to explore
   issues around genetics through various activities. These activities ranged
   from facilitated discussions about the ethics of recent advances in genetics to
   simulated DNA profiling, and featured unique and innovative teaching and
   learning resources. The Conference report is available on the Gengage
   website at: http://www.gengage.org.uk/publications-events.php?id=4


PHG Foundation

Whole genome sequencing – the impact of new sequencing technologies for
health

50. A major new programme to address the implications of rapidly advancing
    technical capacity for high-speed, low-cost whole genome sequencing (WGS)
    for health and society is now under way. The work addresses three key
    questions:

      What is the role of WGS technologies in medicine and public health?




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      How will they affect routine clinical practice, and what ethical principles
       should guide their implementation?
      What operational barriers exist to adoption within health services, and how
       should they be tackled?
  Working with experts in a range of relevant fields, they will identify the most
  useful applications of current and emerging sequencing technologies and
  produce recommendations to direct their optimal use within health services to
  improve patient care. This will involve a particular focus on the utility and
  impact for the diagnosis and management of inherited diseases and cancer,
  and the implications for clinical genetics, pathology, oncology and other
  specialised medical services.
  They will also explore the potential impact of private provision of DNA
  sequencing and analysis to healthcare providers and direct to consumers, and
  consider the economic, ethical, legal and social implications of widespread
  introduction of WGS for medical applications, including issues such as:
      Genetic privacy and genetic discrimination
      Duty of care and dealing with incidental findings
      Informed consent, autonomy and reproductive choice
   For further information contact: caroline.wright@phgfoundation.org

Framework for action on birth defects – building better care and prevention
51. The second of two main work programmes is an initiative to address the
    preventable burden of disability and death caused by birth defects. These are
    a large group of conditions present from birth, ranging from inherited diseases
    and chromosomal disorders to congenital abnormalities; mortality from birth
    defects is increasingly recognised as a public health problem, especially in
    countries where they may be „unmasked‟ by falling rates of deaths from
    infectious diseases. In May 2010, the World Health Assembly passed a
    resolution calling upon member states to act to address the current lack of
    focus on birth defects; although simple measures to provide better care could
    have a major effect, even these basic services are absent in many low and
    middle-income countries. They are working with the World Health
    Organization (WHO) and other supporters in this area to achieve two key
    aims:

   1. To provide governments and their health partners with the tools and data
   to build the evidence base and make the case for the development of
   services to tackle birth defects in their populations
   2. To use the toolkit as a focus for creating international momentum to
   secure better services for preventing birth defects and caring for those
   affected and their families, especially in low and middle income countries




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   At present, the web-based toolkit is in preliminary trials in selected middle-income
   countries, prior to formal evaluation trials in other countries.
   For further information contact: corinna.alberg@phgfoundation.org

Expanded newborn screening

52. The PHG Foundation‟s most recent report on the evidence for expanding
    newborn screening in the UK to include selected rare inherited metabolic
    disorders was released in May 2010. Commissioned by the National Institute
    of Health Research Collaboration for Leadership in Applied Health Research
    and Care – South Yorkshire (CLAHRC – SY), this report found that there was
    potential to reduce the mortality and morbidity caused by these conditions in a
    cost-effective manner by newborn screening. It was recommended that a pilot
    study should be conducted in the UK, the main aims of which would be to
    establish laboratory protocols for optimal test performance, ascertain costs
    and impact on laboratory and clinical services, and public and professional
    acceptability.

   For further information contact: hilary.burton@phgfoundation.org

Consanguineous marriages and infant mortality

53. Birmingham has the highest rates of infant mortality in the UK, with overall
    rates approximately double the national average, and particularly high
    amongst those of South Asian ethnicity. The Enhanced Genetics Services
    Project being led by the West Midlands Regional Clinical Genetics Unit aims
    to reduce infant mortality and morbidity associated with autosomal recessive
    genetic conditions in the Birmingham region, where high levels of marriage
    between cousins within the local Pakistani community increases the risk of
    affected children in families. The PHG Foundation has been commissioned
    to advise and contribute to the evaluation of the project, which will run until
    late 2012 and comprise three main strands: haemoglobinopathy screening via
    GP practices, a register of „at risk‟ families within the clinical genetics service,
    and educational outreach to both health professionals and the relevant local
    community.

   For further information contact: corinna.alberg@phgfoundation.org

Mainstreaming medicine

54. Opportunities to use genetic knowledge and technologies within mainstream
    medical services, in addition to specialist genetics services, are rapidly
    expanding. Health services require a strategic response in order to meet the
    challenges of genomic medicine. The PHG Foundation and UK Genetic
    Testing Network (UKGTN) have been examining some of the key issues and




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   producing recommendations for policy development, with the final report to be
   released in autumn 2010.


                            International Developments

Czech Republic

55. On 14 June 2010, the then-acting Czech Republic Prime Minister Jan Fischer
    announced that the government has approved the country's first national
    strategy for rare diseases. There are some 20,000 rare disease patients
    amongst the nation's 10.5 million population. The ten-year strategy will allow
    rare disease patients to access appropriate diagnostics and treatment. Care
    is to be concentrated in 10 to 20 centres. The establishment of a National
    Coordination Centre for rare diseases in the Prague-Motol Teaching Hospital
    coincides with the approval of the strategy. Besides diagnostics and
    treatment, the strategy will encompass research, public information, training
    for health professionals, and quality of life for patients. An inter-ministerial
    working group for rare diseases will be formed. A budget for the strategy has
    not been announced yet.


Germany

Court ruling on pre-implantation genetic diagnosis (PGD).

56. On 7 July 2010, Germany‟s Federal Court of Justice issued a verdict on pre-
    implantation genetic diagnosis (PGD). The court confirmed the acquittal of a
    doctor who used PGD as part of IVF treatment. The court underlined that the
    verdict was not about approving embryo selection in general. Germany‟s
    Embryo Protection Act (ESchG) does not offer legal clarity about the use of
    PGD. Despite this ambiguity the doctor used PGD in two separate IVF
    treatments of couples with a history of severe hereditary disorders. The
    doctor had reported himself as violating the law to force the courts to create
    legal clarity.

Background to the verdict

57. The Embryo Protection Act (ESchG) has been in place for 20 years. The Act
    bans the donation of human egg cells, IVF using sperm of a deceased,
    surrogate motherhood and the creation of embryos for a purpose other than
    implantation in the womb. Legal experts offer conflicting interpretations of the
    Act with regard to PGD and the selection of embryos for implantation. There
    are increasing doubts that the Act adequately reflects new approaches to
    assisted reproduction. While the ESchG provides comprehensive protection
    of the human embryo in-vitro, Germany‟s abortion law tolerates (but does not
    legalise) late abortions of a foetus diagnosed with a severe disorder. If the


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   mother-to-be feels unable to cope with a severely disordered child, late
   abortions may be carried out provided the parents have had the mandatory
   counselling. The protection of the human embryo in-vivo is therefore
   considered less effective than of embryos in-vitro. In the early 2000s the then
   Federal Government began to review the regulatory framework for assisted
   reproduction and embryo protection. However, a comprehensive
   reproductive medicine bill was never drafted and the project eventually
   abandoned, leaving some legal ambiguity.

View of policy-makers

58. The conservative CDU/CSU and liberal FDP are at odds over the issue. The
    Federal Government‟s Disabilities Commissioner Hüppe (CDU) rejects the
    legalisation of PGD. Research expert Rupprecht (CSU) is not expecting any
    far-reaching legislation. But Federal Justice Minister Leutheusser-
    Schnarrenberger welcomes the verdict, saying that the court has “created
    legal clarity for affected couples in an ethically very sensitive question”. The
    liberal FDP believes the Federal Government is now required to pass rules
    clarifying the use of PGD.

Media response

59. The July 2010 verdict was covered widely in the media with main stories in all
    major broadsheets, on television and on radio. Comments varied. Some
    warned of opening a door that could lead into darkness (e.g. Handelsblatt,
    Germany‟s FT equivalent). Others welcomed the court ruling as creating the
    necessary legal clarity (e.g. Sueddeutsche Zeitung, Germany‟s largest
    national broadsheet). The paper considered the court ruling a good, life-
    affirming verdict. The conservative Frankfurter Allgemeine Zeitung, however,
    expressed concerns that PGD might open the door to a weighing up between
    valuable and worthless life.

   German-language media reporting in the run-up and after the verdict are
   available from the press archive of the German Ethics Council at
   http://www.ethikrat.org/presse/pressespiegel


German Ethics Council launches enquiry into assisted reproduction

60. The German Ethics Council recently announced an enquiry into assisted
    reproduction. An expert working group will be established in August 2010.
    The Council held a kick-off meeting on 22 July to outline the main legal and
    medical issues. This provided an overview of the state-of-the-art in assisted
    reproduction and the implications of the Embryo Protection Act (ESchG) of
    1990. The Council will make recommendations on reviewing and updating
    Germany‟s regulatory framework for assisted reproduction.



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61. A number of recent court rulings at European and national have underlined
    the need for reviewing and amending the ESchG. Additionally, there is scope
    for distinct interpretation of sections of the ESchG – e.g. on the maximum
    number of embryos that may be created per IVF cycle. It is also not clear
    whether therapeutic cloning is illegal under the ESchG. It is also doubtful
    whether the ESchG effectively bans the creation of chimeras and hybrids. It
    fails to specify how long impregnated egg cells may be frozen and stored.
    Another area to review is genetic manipulation of the germ cells and whether
    amendments to the Act needs to be amended to take into account new
    techniques such as reprogramming totipotent cells.

62. The ESchG has been criticised for leading to an above-average rate of
    multiple births in Germany compared with other European countries, exposing
    mothers and children to unnecessarily high risk. Many critics also point to the
    contradiction between comprehensive protection of embryos in-vitro with less
    restrictive protection granted in-vivo. English-language press releases:
    http://www.ethikrat.org/press/press-releases/2010



German Ethics Council presents recommendations on research biobanks

63. In June 2010, the German Ethics Council put forward recommendation on
    biobanking in research. The ethical and legal issues arising from research-
    related biobanking are not covered by the Genetic Diagnostic Act (GenDG)
    which came into force in February 2010. This has prompted the German
    Ethics Council to review biobanking. The Council therefore recommends a
    regulatory framework for research biobanks containing human tissue, blood
    and DNA samples linked to pseudonymised personal and socio-demographic
    data.

64. Previous approaches to protect the interests of donors were essentially based
    on informed consent. The specific features of research biobanks mean that
    informed consent is inadequate to safeguard donors‟ interests. The Council
    recommends that the concept of consent should be supplemented by
    institutional and procedural rules to both set objective limits and grants some
    flexibility regarding research. The Council recommends to:

    safeguard biobank confidentiality. Processing and using samples and data
   should be restricted to scientific research only. Third parties will be banned
   from accessing samples and data. Operators and users of biobanks will be
   given the right to refuse access to samples and data for all individuals and
   institutions outside science, including the state.

    define permissible use of biobank samples and data. Informed consent of
   the donors should continue to be the essential requirement for the use of
   biobank samples and data. Donors should be given the option of making their


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   samples and data available for scientific research for indefinite periods and
   irrespective of project or research area.

    Involve local ethics commissions. Such commissions should be involved
   when personal samples and data are to be used or where there is an
   intention to re-contact donors. They should also periodically evaluate the
   activities of biobanks which are not restricted in subject and duration.

    safeguard quality assurance. Donors‟ rights should be protected by
   appropriate organisational structures and procedures. Biobanks should be
   subjected to sound evaluation.

    safeguard transparency. Goals and procedures of a biobank should be
   made transparent, e.g. by comprehensive documentation and regular
   publication of the activities. A biobank register should be established and be
   publicly accessible.

    introduce internationally binding standards to safeguarding biobank
   confidentiality when samples and data are exchanged with cooperation
   partners abroad.

   A minority of four Council members recommend that the proposed provisions
   should not apply to biobanks with a narrow thematic and time-specific focus
   and which do not involve the transfer of samples or data for any other use but
   academic projects for university dissertations and theses.

Background

65. The enquiry was launched in late 2008 with the aim to present the
    recommendations in late 2009. Council will draw on a review
    recommendations on biobanking in research issued in 2004 by the then
    National Ethics Councils. The Council‟s main ethical concerns in connection
    with biobanking include

      Growing numbers of biobanks: e.g. Germany has over 40 biobanks with
       between 1,500 and 100,000 samples each.

      Increasing information contained in datasets. This is seen to potentially
       undermine anonymisation as samples become more easily
       distinguishable.

      Collaboration and data sharing between biobanks and greater integration
       of research biobanks with local and regional health care providers is likely
       to blur the lines between research-based and non-research biobanking.

      Lack of standardisation in biobanking seen by the Ethics Council as major
       obstacle to meaningful collaboration and networking of biobanks


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      Increasing privatisation and commercialisation of biobanking expand the
       purpose of biobanking beyond pure research and restrict donor‟s rights.

      Danger of the use of datasets and samples for non-research purposes.
       Biobank licensing – initial considerations to propose a licensing approach
       to large biobanks –was not covered in the 2004 recommendations on
       biobanking.

   English-language press release: http://www.ethikrat.org/press/press-
   releases/2010/press-release-05-2010

Ethical concerns about research into genetic cause of metal retardation

66. Lebenshilfe, a German patient group with some 130,000 members
    representing people with intellectual disabilities, has raised concerns about
    genetic research into mental retardation. The organisation argues that this
    research will only benefit third parties. Lebenshilfe argues that those affected
    by mental retardation will not benefit from insights into the genetic causes for
    this disorder. The group flags up concerns over the recruitment of patients
    and question that this is done on the basis of full informed consent. The
    group is concerned that a genetic test for mental retardation, one of the
    project aims, could lead to further discrimination of people with intellectual
    disorders. The patient group has therefore called for a regulatory framework
    for this type of research.

67. As part of Germany‟s National Genome Research initiative, Germany‟s
    mental retardation research network (MRNET) conducts a multicentre
    research project which involves seven universities and other research
    institutes, such as the Max Planck Institute for molecular genetics.
    Participants in the network use a variety of modern genetic technologies are
    combined with neuro- and cell biological approaches. The network was
    launched in 2008 for an initial three-year period and a budget of EUR 4
    million. The project aims to develop a genetic test for mental retardation.
    MRNET http://www.german-mrnet.de (English). Bundesvereinigung
    Lebenshilfe http://www.lebenshilfe.de/wDeutsch/andere-
    sprachen/en/index.php (some information in English)

Enlarged EPO Board discusses controversial biopatent

68. In late July, the European Patent Office‟s Enlarged Board held a hearing on
    whether marker-assisted selection is a biological breeding process or a
    technical method and therefore patentable. Its decision on the interpretation
    of the relevant passage in the EPC and the definition of criteria to be applied
    in the patent grant procedure is likely to be published by the end of the year.
    A judgment was not announced immediately after the hearing. The
    patentability of plants and animals was not discussed.




                                                                HGC10/P12 – PAGE 19
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Background

69. In 2002 Plant Bioscience Ltd. was granted a patent (EP 1069819) on a
    method for selectively increasing the level of a potentially anticarcinogenic
    substance in broccoli plants. The method involves locating the relevant genes
    on the broccoli genome and identifying them with genetic markers. Then
    broccoli lines containing the desired substance are selected by means of
    these markers and used in plant breeding. Although this method involves
    conventional breeding steps, the European Patent Office (EPO) has hitherto
    deemed marker-assisted selection to be a technical process and therefore
    patentable.

70. In April 2003 the Swiss company Syngenta Participations AG filed notice of
    opposition to the patent, on the grounds that under the applicable provisions
    of the European Patent Convention (EPC) the patented selection method was
    an essentially biological process and therefore not patentable. This opposition
    is now at the appeal stage before one of the EPO's technical boards of
    appeal.


Switzerland

Revised Swiss patent law

71. The revised Swiss patent law of July 2009 makes a clear distinction between
    discovery and invention; it has the following two starting points: The human
    body as such in all its phases of emergence and development, including the
    embryo, are not patentable. Parts of the human body in its natural
    environment are not patentable. A part of the human body is however
    patentable in case it has been technically made available and its technical
    use can be indicated. An in nature existing sequence or part of sequence of a
    gene as such is not patentable. Sequences, which can be deduced from an in
    nature existing sequence or part of sequence of a gene, can be patentable as
    invention, if that have been manufactured technically and if their function can
    be made clear.

72. Excluded are however inventions, which could be harmful in any way,
    especially no patents are given out for (in summary):

      Human cloning procedures and the actual clones
      Procedure to build so-called mixture creature by using human cells and
       the actually obtained creature
      Procedures for parthenogenesis by using human material and the actual
       product
      Unchanged human embryonic stem cells and stem cell sequences
      The use of human embryos for non-medical purposes



                                                              HGC10/P12 – PAGE 20
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      Procedures to change the genetic identity of animals, which might lead to
       suffering for the animal, without clear clarification of the use of these
       procedures, as are the obtained animals.
      Procedures in surgery, therapy and diagnostics used with human or
       animal bodies
      Plants and animals as the biological procedures to breed these plants and
       animals

Research and Patenting in Biotechnology, a survey in Switzerland

73. In preparation to this revised law the Swiss Federal Institute of Intellectual
    Property sent out 200 questionnaires to research institutes and private
    companies, in order to investigate the issue of patents in biotechnology
    (including DNA) and their influence on access to research. Listed below are
    the findings relevant to DNA patenting. One particular focus of the study was
    the issue of patents and their influence on access to research. To what extent
    do patents in the field of biotechnology limit the dissemination of technological
    knowledge, when and under which circumstances? The aim of this study is to
    indicate possible policy conclusions concerning intellectual property rights in
    response to the needs of Swiss biotechnology companies and institutes. It
    takes into account the need to provide recognition and incentives for
    research, invention and exploitation, to encourage competition and to meet
    the needs of current and future users of creative work and its products.


      Survey participants confirm that the patent system is an important
       incentive for investment in research and development in the field of
       biotechnology.
      Patents and licenses for biotechnological inventions are considered an
       important incentive to stimulate research, knowledge flows and the entry
       of new technologies into markets.
      Switzerland files more triadic patent applications (those applications filed
       at the EPO, the USPTO and the Japanese Patent Office) per inhabitant
       than any other country in the world. Swiss biotechnology patenting
       performance indicates that the Swiss biotechnology industry is closely
       linked to other countries, especially the United States.
      The Swiss biotechnology industry is one of the strongest in Europe. It is a
       very research-and-development intensive branch with high growth rates
       and a high potential for innovation. In addition, the industry shows
       increasing numbers of patent applications. Small companies in the sample
       show the highest potential for innovation in terms of patenting per
       employee in research and development.
      Biotechnology companies wish to resolve the unclear legal situation with
       biotechnological inventions in the European Union and in Switzerland
       (particularly compared to the USA) and, consequently, welcome the



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       implementation of the European directive on biotechnological inventions in
       Switzerland.
      Patents, secrecy and lead-time advantages, play an important role as
       protection mechanism for inventions. Big companies and some small and
       medium-sized companies use patents intensively.
      Main motives to abstain from seeking patent protection are, (1) patents
       are considered to be too expensive and (2) that patent protection requires
       the full disclosure of the invention made.
      Patent litigation plays a minor role in Switzerland.
      Traditional uses of patents (the evaluation of the state-of-the-at in a
       technological field together with a purely defensive patenting strategy to
       protect one‟s own technology), dominate in Switzerland.
      With respect to licensing, the survey participants, and in particular
       research institutes, would welcome a compulsory licensing regulation in
       those cases where abusive monopoly positions are apparent.
      Moderate problems involving DNA patents were identified as: (1)
       dependency on previous patents (crowded art); (2) patents that lock
       access to technologies; and (3) difficulties to enter a technological field
       because of too many patents and conflicts with overlapping patents.
      Participants consider a broad research exemption and a limitation of the
       scope of protection of DNA patents to the specific disclosed functions as
       possible solutions to the problems with DNA patents. Survey participants
       believe that an „absolute‟ scope of protection for DNA patents would
       hamper research as well as further development. However, a concrete
       disclosure of the function of DNA patents would enable the restriction of
       patent claims.
      Survey participants in general do not believe that the introduction of a
       grace period would be an efficient remedy to overcome shortcomings with
       DNA patents.
      Participants feel that patents on methods for genetic testing can lead to
       over strong monopoly positions. Patents can increase the costs of genetic
       testing methods - there have been cases where this has led to the non
       development of new testing methods.
      In order to overcome the problems with genetic testing patents, the survey
       participants suggest that efficient remedies would be a clinical use
       exemption and offering clinical laboratories non-exclusive licenses for
       patented genetic test on reasonable terms.


74. A detailed summary with all findings of the surveys and the conclusions of the
    study can be found at the end of the report. The Report „Research and
    Patenting in Biotechnology; A Survey in Switzerland‟ is electronically available
    at:

   https://www.ige.ch/fileadmin/user_upload/Juristische_Infos/e/j10005e.pdf



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Sweden

LifeGene project at Karolinska Institute to study half a million Swedes DNA

75. The LifeGene study is a national collaborative project designed to build up a
    resource for research in all medical disciplines. By combining a biological
    perspective with e-epidemiology, LifeGene will open up new possibilities for a
    greater understanding of the interplay between heredity, lifestyle and the
    environment as regards to common diseases. Researchers in disciplines
    such as biomedicine, biotechnology and behavioral and social sciences will
    be able to access LifeGene. The study will include information from half a
    million Swedes between 18 and 45 with the aim of creating new tools to
    prevent, diagnose and treat the most common diseases. Anyone who accepts
    will give blood and urine samples which will be frozen and stored for many
    years in a gigantic biobank, which is currently being built under the ground at
    the Karolinska Institute. Participants will also be given an extensive health
    test and asked to answer many questions about their lifestyle habits. Samples
    and information about the participants will then be used by researchers who
    want to study the links between genes, lifestyle and various diseases. The
    biobank may be used for studies related to depression, allergies,
    cardiovascular disease and cancer. Participants identities will be kept
    anonymous.

Swedish Research Council Seminar on Building Capacity in Medical Ethics skills
June
76. The Swedish Research Council discussed the lack of specialist skills in
    medical ethics to meet future needs. They proposed that they approach the
    Ministry of Social Affairs and the Ministry of Education and Research as soon
    as possible to investigate how to finance capacity building for a stronger
    research and education system in Sweden in medical ethics. They will do this
    in partnership with the Swedish Association of Local Authorities and Regions
    as many public health care issues are made at a regional level. Some of the
    issues discussed included the conflict between the pressure to find urgent
    solutions to ethical dilemmas without a long term bank of knowledge or staff
    training to draw on; the need to prepare for important upcoming issues that
    will be introduced into healthcare such as genetics, nanotechnology, stem cell
    research etc; risk assessment and value judgements; and most importantly
    linking research and education across undergraduates, graduates, and
    postdoctoral researchers into a more permanent solid structure. One early
    step might be the establishment of specific teaching positions responsible for
    ethical competence in health care. These services should be linked to the
    universities where both educational and research competences are located.

The Royal Swedish University (KTH) is to host a £ 2.2 million national large scale
infrastructure for DNA sequencing – SNISS




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77. The purpose of the facility is to preserve long term academic access to
    sequencing technology. Researchers across the country will have access.
    The joint partner in the facility is Uppsala University. The facility will measure
    variations in individuals' DNA from human tissue samples, but also plants,
    trees, bacteria and viruses. It will receive 25 million Swedish Kronor (c. 2.2
    million GBP) between 2010-2014.

Swedish Research Council's Expert Group for Database Infrastructure (DISC)
convenes committee to review right to privacy


78. A committee is to be convened to investigate how to balance increased
    availability of data to researchers balanced with an individual's right to
    privacy. A background report to inform the work of the committee goes
    through several laws and regulations from a database perspective, such as
    the Data Protection Act, ethics and the law of publicity and secrecy, existing
    data sources, records and disclosure of data.



France

79. The National Consultative Ethics Committee for Health and Life Sciences in
    France has published a report on ethical issues in connection with antenatal
    diagnosis: Prenatal diagnosis and Preimplantation Genetics Diagnosis.

   The document is available at:

   http://www.ccneethique.fr/docs/AVIS_107_Eng.pdf



United States

80. A report on Gene Patents and Licensing Practices and their Impact on Patient
    Access to Genetic Tests has been published by the Secretary‟s Advisory
    Committee on Genetics, Health and Society. The executive summary is
    available at Annex B.

   The full report is available at:

   http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_011


81. A report on Direct-to-Consumer Genetic Testing has been published by the
    Secretary‟s Advisory Committee on Genetics, Health and Society. The
    executive summary is available at Annex C.



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   The full report is available at

   http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_011



India

Genetic Discrimination

82. In India, medical graduates are exposed to medical genetics only briefly and
    as such compared to western world, public awareness is much lower in India.
    Some diseases like Beta- thallasemia, Ducchene Muscular Dystrophy etc.
    has been studied quite extensively in many parts of the country and carrier
    testing has been introduced. India has a complex social structure wherein a
    large section of communities practice strict patterns of matings. Therefore,
    much more care and sensitivity is needed in handling genetic discrimination.
    If a marker linked to a disease is traced to a community the entire community,
    even with an incomplete understanding of the disease could be castigated. In
    this context, researchers like Dr Mitalli Mukherji from the Institute of
    Genomics and Integrative Biology (IGIB) who has worked on related projects,
    mentioned about her work on sex-linked diseases like DMD where the male
    members are afflicted and the mother is held responsible as a result of which
    she is sometimes socially ostracised.

83. The Indian Council of Medical Research (ICMR) has issued special
    Guidelines for Research on Human participants for Human Genetics and
    Genomics research in 2000 (updated in 2006). Also, the Department of
    Biotechnology, Govt. of India, in 2002 has issued Ethical Policies on the
    Human genome, Genetic research and services (updated in 2006). Both take
    special cognisance of the fact that genetic information, be it family history or
    genetic test results, can lead to discrimination and stigmatization of the
    participant (family and community). Therefore, it is laid down that all genetic
    information should be kept strictly confidential.

Preconception Genetic Testing

84. There is no national programme on preconception genetic testing. Though,
    this has been in a larger scale provided in case of thalllasemias and DMD as
    well as chromosomal disorders like Down‟s syndrome, fragile X etc. However,
    it has not been made obligatory in the preconception testing.

85. Genetic counselling and advice to screen family relatives at high risk of
    genetic disorder is a routine practice at genetic centres. Some research
    studies have been done to screen school going population and pregnant
    women in the first trimester, for thalassemia carrier state, with a view to
    achieve primary prevention. Thalassemia is one of the important national



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   health problems (3% of the population at large is thalassemia carrier).
   Routine preconception clinics are also not in vogue. The prevalence of neural
   tube defects (NTD) is very high (5/1000 births). Some practitioners
   recommend periconceptional folic acid supplementation, but it is largely an
   individual practice. There is no specific social taboo against preconception
   testing.

86. At present, there are several institutes/centers throughout India especially in
    metro-cities where sufficient technological facilities are available for the
    detection/diagnosis of various genetic diseases along with the detailed
    investigations as well as genetic/marriage counselling. Currently in India, the
    emphasis on the small family and the socio-economic constraints have
    created a desire in all the eligible couples that every child born should be
    normal.


   Note: The Government has strictly enacted laws to prevent preconception
   gender testing.

Public Engagement on issues relating to complex genetic conditions

87. Public engagement and awareness is extremely low and limited. A large
    mass of medical profession, public at large and government remain largely
    indifferent to the potential of medical genetics for public good. A major limiting
    factor seems to be the high cost of genetic tests and lack of their accessibility
    in India.

88. There are some trusts and foundations, made by patient groups, being set up
    with respect to certain diseases. However, that too is limited. Public
    engagement would be more effective if the persons who are responsible for
    creating this awareness have an understanding of genetics. The critical
    education link is missing.

89. Screening for genetic markers associated with predisposition to common
    disorders is primarily a research activity limited to selected candidate genes
    at few centers in the country. There is no ongoing or proposed Genome Wide
    Association Study for any common complex disorder . Also, there are no
    national bio-banks engaged in collection of the desired clinical material. Some
    population based single nucleotide profiling (SNP) to create an Indian
    HapMap are ongoing.

The impact of intellectual property on innovation in DNA diagnostic technology

90. So far most of the DNA diagnostic testing are based on the mutations that are
    reported in the Western populations and a very limited set from the Indian
    population, for instance in DMD and thallasemias. However, after having
    participated in National and International SNP consortium projects, Indians


                                                                 HGC10/P12 – PAGE 26
                                                                    HGC10/P12


   are becoming more aware of IPR rights and the need for development of its
   own low cost diagnostics.

91. Dr Samir Brahmachari‟s group (Director General-Council of Scientific and
    Industrial Research) has initiated major work in the area of
    pharmacogenomics, where markers related to responsiveness to low cost
    drugs are being identified and protected. Current work involves identifying
    markers that are useful for a larger section of population - for example : for
    identifying people who would not be at risk compared to those at risk or only
    those sections of populations that need to be administered expensive drug
    and as a corollary have genetic tests for cheaper drugs etc. This would
    enable Affordable Health care initiatives. Dr Brahmachari has been a
    champion in preventing genetic samples being moved outside the country
    when there is a feasibility to identify genetic markers in India. The reason
    behind this being that the IPR on markers identified from Indian population
    stays in India and the country will not have to pay for it.

92. As India gears up for more genomics activity, there is a very high likelihood of
    more innovations in DNA diagnostic technology in the future.


Japan

Regulation of DTC genetic testing in Japan

93. In Japan, there are issues emerging with the regulation of DTC (direct-to-
    consumers) genetic testing. Recently, a foreign based genetic testing
    company has made agency agreements with Japanese companies and
    started its operation in Japan. Children‟s talent testing by the company was
    featured in TV programmes including NHK (Nippon Hoso Kyokai, Japan‟s
    public broadcasting organisation) and has been receiving much public
    attention.

94. There are no advisory body functions like HGC in Japan which regulate
    genetic testing neither inside the government nor cross governmentally.
    There are only non-legally binding guidelines provided by respective
    ministries or academic societies. Medical genetic testing is at least subject to
    regulation by doctors‟ common sense; however, there are no ways to regulate
    non-medical genetic testing without the involvement of a medical
    professional, including DTC genetic testing.

95. In addition, these kinds of provider companies are often not visible as they
    tend to conceal themselves behind general physicians whose literacy and
    practice in clinical genetics are very limited. There are still only a small
    number of clinical geneticists in Japan: thus some companies take advantage
    of the situation in order to set up and operate their businesses.




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96. Experts in Japan are concerned about the current situation where there is no
    way to legally regulate the establishment or entry of a new genetic business,
    and call for the necessity of legally binding regulations against increasing
    cross-national genetic businesses.

‘Genetic Counselling Japan’ established by graduate schools

97. Nine Japanese graduate schools have jointly established a non-profit
    organisation named „Genetic Counselling Japan‟- in response to the growing
    needs for experts in genetic research and medicine to provide counselling
    and support to patients and their families undergoing genetic diagnosis and
    treatment. Regular employment of genetic counsellors is still limited to only
    large hospitals. The organisation aims to raise awareness of genetic
    counselling and provide employment support for the graduates of the
    universities.




                                                                   HGC Secretariat
                                                                   August 2010



Annexes

Annex A – The House of Lords Science and Technology Select Committee call
          for evidence on behaviour change (the call for evidence is available
          at www.parliament.uk/.../lords-committees/science-
          technology/behaviourchange/CfEBehaviourChange.pdf)

Annex B – The executive summary of a report on Gene Patents and Licensing
          Practices and their impact on patient access to genetic tests by the
          Secretary‟s Advisory Committee on Genetics, Health and Society.
          (the full report is available at
          http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_0
          11)

Annex C – The executive summary of a report on Direct-to-Consumer Genetic
          Testing by the Secretary‟s Advisory Committee on Genetics, Health
          and Society (the full report is available at
          http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_0
          11)


NB: URL links given are accurate at the time of writing but may be subject to change




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