We are pleased to announce that the Implementation Plan for Scotland has now been published. The Implementation Plan is a step forward in helping the 300,000 in Scotland who will be affected by a rare disease at some point in their lives.
The effective implementation of the plan will help to ensure that patients affected by rare diseases will be able to access effective care and treatment.
Alastair Kent OBE, Chair of Rare Disease UK, said:
"The publication today of the Scottish Government's response to the UK Rare Disease Strategy is an exciting and important development. We welcome this commitment to meeting the needs of patients and families with rare diseases in Scotland. We look forward to continuing the collaboration between Genetic Alliance UK, through its Rare Disease UK campaign, the Scottish Government and the NHS in Scotland to bring about the improvements that this document heralds quickly, affordably, equitably and sustainably."
Key points include:
- The Implementation Plan acknowledges that delivery of the actions requires continuing collaborative working between the NHS, public and third sector partners, researchers, academic institutions and industry.
- The Implementation Plan also acknowledges that partnership working in rare disease research is key to providing diagnostic tools to reduce diagnostic delays and to pilot and develop treatment interventions.
- During 2014 the Scottish Government will establish an Implementation Oversight Group to oversee actions and metrics, and to assess progress and delivery of the Implementation Plan over agreed timescales.
- The first task for the Rare Disease Implementation Oversight Group will be to bring forward a timed, deliverable and sustainable set of high level actions to encourage, support and deliver the changes in rare diseases that will help patient and their families.
Key Actions the Scottish Government will undertake include:
- improving rare disease patient involvement and engaging with rare disease service users at all stages in service planning, delivery and evaluation.
- exploring with relevant agencies the applicability/practicability of registers and the opportunities to develop a patient electronic health record.
- ensuring access for people in Scotland and families to UK Genetic Testing Network (UKGTN) approved carrier testing, extending coverage as appropriate.
- improving diagnostic pathways for people with rare diseases through review by NHS Boards, National Services Division and Managed Diagnostic Networks of the input of diagnostic specialties to rare disease diagnosis and consideration of how delays may be reduced.
- improving diagnostic pathways for people with rare diseases through Exploration by NSS Public Health and Intelligence of how rare disease decision support systems and other rare disease software systems may feature in future development of IT systems in NHS Scotland, ensuring these are interoperable with GP clinical systems.
- reviewing existing data collection approaches for rare diseases through engagement with NSS Public Health and Intelligence to carry out a stock take of rare disease databases to scope what existing patient data systems exist, where these are held and how they might be improved.
- improving knowledge and appropriate utilisation by referring clinicians of pathways for rare diseases through the publication of patient pathways for rare disease and the referral requirements for services in and out of Scotland, and by working with specialist services to develop clear diagnostic pathways for molecular diagnostics.
- supporting service planning, coordination of care and monitoring of service delivery through engagement between NSD, e-Health Strategy and NSS Public Health and Intelligence colleagues to consider how to best develop the IT database requirements for national managed clinical networks to collect systematic patient data.
- supporting rare disease research through the Chief Scientist Office and publicise to all stakeholders the work carried out in science and research to improve outcomes for people with rare diseases.
- ensuring that rare disease research is fully supported in the reorganised clinical research infrastructure for NHS Scotland and that Scotland is represented on any proposed rare disease strategic research initiative.