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  • 1. The Calman Review - progress report Ros Skinner Mary Porteous
  • 2. Review of genetics in relation to healthcare in Scotland “ To review NHS genetic services in Scotland in the light of the White Paper ‘Our Inheritance, Our Future – Realising the potential of genetics in the NHS’ and to assess how the current quality of such services in Scotland can be maintained and the potential from present developments in genetics harnessed for the enhanced wellbeing of the people of Scotland, and to benefit academia, the life sciences industry and the NHS in Scotland”.
  • 3.
    • Population Approx 5 million
    • Birth Rate Approx 60,000 per year
    • 4 Genetic Centres
      • Outreach clinics to cover all areas and provide equity of access.
    • Clinical genetics service locally commissioned, but being developed into ‘national model’.
    • Molecular and cytogenetic laboratory services nationally commissioned and will work as a Scotland-wide Consortium
  • 4.
    • Genetics Education and Training
    • Formal links with Birmingham Genetics Education and Development Centre
    • ScotGen/NES/e-library
    • Genetics Research
    • Scottish Genetics Research Network
    • Genetic Research Nurses Network
    • Public Engagement Network (Genomics Forum)
    • Network for Patients and Families (GIG)
    GENETICS REVIEW IT Development
    • NHS Genetics Services
    • Clinical and counsellor manpower strengthened (Forum)
    • Laboratories equipped and strengthened
    • Cytogenetics service moved to Scotland wide consortium services
    • Clinical/Patient Focussed Initiatives
    • Specialist neuromuscular geneticist appointment
    • GPs with special interest
    • Single Gene Complex Disorders Project/Genetic Care Coordinators
    • Cardiac Genetic Services
  • 5. Areas for discussion
    • Cytogenetics developments
    • Clinical Genetic Forum
      • Learning disability strategy
      • Cardiac genetics
    • Neuromuscular genetics initiative
    • Challenges
  • 6. Cytogenetics
    • Investment around £1.8 million to tool up labs
    • NSD Consortium - equity of access
      • Aberdeen
      • Dundee
      • Edinburgh
      • Glasgow
      • Inverness
  • 7. Laboratory Automation
  • 8. Image Analysis System
  • 9.
    • National data network
    • Backlogs of cases can be distributed, resulting in lower, more even, reporting times.
    • .
    Workflow Balancing
  • 10.
    • Complex cases can easily be referred to another centre for a
    • second opinion.
    Workflow Balancing
  • 11.
    • Support would be in place to assist laboratories with local staffing problems.
    Workflow Balancing
  • 12.
    • An image based training system could be put in place. This would allow staff to broaden the
    • range of abnormalities that they encounter, as well as helping
    • raise the quality of issued reports.
    Workflow Balancing
  • 13. Microarray Laboratory
  • 14. Patient DNA Normal Control DNA Mix Equimolar Amounts of Labelled DNA Patient:Control ratio = 1 Patient: Control ratio 0.5:1 i.e. deletion in Patient DNA Label DNA with different fluorescent dyes Apply DNA mix to glass slide with high-density array of different DNA probes with known location in the human genome Patient: Control ratio 1.5:1 i.e. duplication in Patient DNA
  • 15. 60mer oligo from Duplicated Region 60mer oligo from Deleted Region Microarray Slide
  • 16. South East Scotland Cytogenetics Service
  • 17. Clinical Genetics
    • Consortium model rejected
    • “Forum” as a model for development of joint working
    • Facilitated by prevailing political ideology
      • Support for working across Health Boards
      • Managed Clinical Networks
  • 18. The Clinical Genetics forum
    • Forum key areas
      • Learning disability strategy
      • Cardiac genetics
      • Neuromuscular genetics
      • Cancer genetics
    • Agree quality standards
    • Common ways of working across departments
    • Existing strong relationships
  • 19. Cardiac Genetics
    • Long QT, cardiomyopathies, hyperlipidaemia
    • Collaborative working with other disciplines to agree protocols
      • F amilial A rrythmia N etwork S cotland
      • Lipid group (meeting November)
  • 20. Screening Strategy Request Patients with learning difficulties and dysmorphic features Karyotyping Fragile X Testing MLPA Testing for Telomeres and microdeletions (Kits P036B,P0764B) Clinical Genetics Evaluation Array CGH
  • 21. Edinburgh pilot
    • April to October 2007
    • All learning disability referrals screened
    • Abnormalities detected:
      • Sub telomere 16/201 7.9%
      • Deletion panel 6/201 3.0%
      • Total 10.9%
  • 22. Molecular Genetics
    • Jewel in the crown
    • Model for other genetic services
    • Centralised funding through National Services Division
    • £300k National equipment rolling replacement policy
  • 23. Scottish Muscle Network
    • Founded in 1998 through MDC grant and adopted in 2003 by NSD
    • “ to improve the care provided to all Scottish neuromuscular patients, regardless of where they live, by ensuring they have access to local health, social and educational professionals who are informed about their condition and its complications and are aware of what can be offered by appropriate tertiary referral specialists .”
  • 24. Neuromuscular initiative
    • Appointment of a full-time Neuromuscular geneticist and physiotherapist for Scotland
    • Neuromuscular clinics held throughout Scotland with significant input from other specialists
    • Rationalisation of service protocols, streamling audit and improving equity of access to modern diagnosis and treatment
    • Complement the Scottish Muscle Network and strengthen the resources in the East
  • 25. Progress
    • Neuromuscular geneticist took up post Aug 2007
    • Established muscle clinics across Scotland - over 270 families seen to date
    • National Consensus Conference for myotonic dystrophy management guideline
    • Pysiotherapist and specialist nurse (Lothian) under recruitment
  • 26. Challenges
    • We’ve got what we asked for
      • No excuses!
    • Major IT requirement
      • Data security
    • Need to develop meaningful outcome measures
    • How to develop meaningful user involvement
    • Agenda for Change
    • Accommodation