Rare diseases action plan - progress report: Fairer Scotland duty summary

Fairer Scotland Duty summary: Progress Report on Scotland’s Action Plan for Rare Diseases

Title of policy, strategy or programme

Progress Report on Scotland’s Action Plan for Rare Diseases

Summary of aims and expected outcomes of strategy, proposal, programme or policy

Our aim is to improve the lives of people in Scotland living with a rare condition by enabling opportunities for our key priorities to be implemented. Faster diagnoses allow earlier intervention; increased awareness empowers healthcare professionals to recognise what interventions are required; co-ordinated care saves wasted appointments and administrative burden on the individual, and access to specialist care allows more people to benefit from a tailored approach.

Our first Action Plan for Rare Diseases focused on 18 actions to be worked on over the subsequent 12-18 months, with governance/oversight from Scotland’s Rare Disease Implementation Board. Working within a challenging fiscal environment, policy officials focused the Action Plan towards low-cost/neutral cost, smarter use of existing resources and aligned workstreams elsewhere in Scottish Government from which people living with a rare condition would benefit. This continues to be the case at the current stage of review.

As there are over 7,000 known rare conditions, our approach is not condition-specific as this would not be feasible. Instead, the focus in our Action Plan and beyond is on ways that the four overarching priorities can improve the lives of people living with any rare condition. Some examples of best practice that can be found do focus on a single condition or group of conditions, and part of our approach is to seek examples of best practice that could be widely applicable to any number of rare conditions.

Improving the lives of people in Scotland living with a rare condition benefits not only that individual but also their families, particularly for those caring for a child with a rare condition. Healthcare professionals will benefit from having increased awareness of rare conditions: survey work carried out in 2023 by Genetic Alliance UK and the Office for Rare Conditions Glasgow highlighted that healthcare professionals who had received some training in rare conditions appreciated this and felt more confident in identifying the right diagnosis and care. Better co-ordination of care allows for greater knowledge-sharing among multi-disciplinary teams, and reduce wasted appointments and the overall time burden.

Summary of evidence

Our Action Plan, and this progress report, sets outs the actions required to ensure that access to care and treatment is equitable and that information on rare conditions is made accessible across the health and social care system to better support care and treatment for all.

Access to healthcare services can be hindered by socioeconomic factors, as can the time-intensive (sometimes expensive) daily care for a family member with a rare condition. Stakeholders have told us, for example, of families struggling to afford the cost of increased energy bills when running additional home equipment essential for wellbeing. People with a rare condition often have to travel to several appointments with multiple specialists, increasing travel costs.

Summary of assessment findings

The aim of our rare disease policy work, and our Action Plan, is to drive improvements in the lives of people in Scotland living with a rare condition. Our Action Plan set out eighteen actions against four key priorities to be worked on in the following 12-18 months, and this progress report represents our first review of this work. This is an ongoing, iterative process and it is probably too early to tell at this stage if the progress made so far has worked to reduce disparities and inequalities. This will however remain our aim as an effect of quicker diagnoses, increased awareness among healthcare professionals, better co-ordinated care and improved access to specialist care. We will revisit this impact assessments with future reviews.

Sign off

Name: Lynne Nicol

Job title: Deputy Director, Healthcare Planning and Quality Division, Directorate of the Chief Operating Officer, NHS Scotland