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The Calman Review - progress report

Review of genetics in relation to healthcare in Scotland.

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The Calman Review - progress report

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    1. The Calman Review - progress report Ros Skinner Mary Porteous

    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

    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 Familial Arrythmia Network Scotland Lipid group (meeting November)

    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

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