Rare diseases action plan - progress report: equality impact assessment

Equality Impact Assessment: Progress Report on Scotland’s Action Plan for Rare Diseases

Title of policy:

Progress Report on Scotland’s Action Plan for Rare Diseases

Summary of aims and desired outcomes of 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.

Directorate: Directorate for Chief Operating Officer NHS Scotland

Division: Healthcare Quality & Improvement

Team: Genomics, Diagnostics & Participation

Executive summary

Scotland’s 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.

Background

A rare condition is defined as a condition which affects less than 1 in 2,000 people. Approximately 412,080 people out of a population of 5,151,000 in Scotland have a rare condition, and it is estimated that there are over 7,000 different rare conditions. Rare conditions are thus individually rare, but collectively common, with 1 in 17 people being affected by a rare condition at some point in their lives. Most rare conditions are chronic and will require management throughout a person’s life.

The UK Rare Diseases Framework, co-produced by the UK Government and devolved nations, was published in January 2021. This identified four shared priorities, following extensive stakeholder engagement, to improve the lives of people living with a rare condition: faster diagnosis, increased awareness among healthcare professionals, better co-ordination of care and improved access to specialist care, treatments and drugs. Working to these four priorities, each administration’s task was to publish a nation-specific Action Plan by the end of 2022. Scotland’s Action Plan for Rare Disease was published in December 2022. We are now publishing our first report on our progress implementing our Action Plan.

In keeping with our commitment to listen to community feedback, this progress report also marks a shift in our language from “rare diseases” to “rare conditions” as much as is practical (“Rare Disease Day”, for example, is an established and well-recognised day of visibility). A rare condition may be caused by a disease, but we want to ensure we are always considering the person with the condition and what is required to improve their life.

Policy objectives

Our aim is to improve the lives of people in Scotland living with a rare condition by enabling opportunities for these 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.

The Scope of the EQIA

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.

An EQIA is required because rare conditions policy work has wide-ranging potential impact across Scotland. While rare conditions are individually rare, they are collectively common and impact not just the individual but families and other caregivers. People living with rare conditions can be living with a manageable condition or a severe disability, and impact of symptoms can vary over time. This community therefore experience various levels of marginalisation in society. The availability of specialist care may also be an issue for people living with a rare condition in the more remote/rural areas of Scotland.

The evidence-gathering stage of this impact assessment process used both desktop sources in the form of published reports, and third sector engagement. Our third sector engagement was centred around Genetic Alliance UK, an alliance of over 200 charities and support groups across the UK working to improve the lives of people with genetic, rare and undiagnosed conditions. We have also engaged with the Office for Rare Conditions, Glasgow, and with Medics 4 Rare Diseases. Engagement with the rare community was also taken forward by Genetic Alliance UK to ensure that our priorities continue to align with theirs.

Key Findings

Evidence from published sources and engagement indicated that people living with a rare condition are still going through lengthy diagnostic odysseys, not feeling listened to by healthcare professionals (who may often never have encountered their condition/symptoms before), attend multiple appointments with specialists in care that is poorly co-ordinated, and require better access to specialist care.

Our Action Plan for Rare Diseases, and this progress report, work to the four shared priorities of the UK Rare Diseases Framework to set out action that will enable faster diagnosis, increased awareness among healthcare professionals, better co-ordination of care and improved access to specialist care.

Some gaps in data remain, such as prevalence of rarer conditions. The work that we are supporting CARDRISS (Scotland's registry of rare and inherited conditions) to take forward will help to address this, as will pursuing alignment with registries in other nations. Learning from Genetic Alliance UK’s Stats Behind The Stories report will also be helpful in its analysis of groups of more common rare conditions and how improvements to care could be adapted for a much wider range of conditions.

Our work will positively support protected characteristics, most notably for those living with a disability, with the successful implementation of our Action Plan enabling the reduction of healthcare inequalities and unintended variation of care across Scotland.

Recommendations and Conclusion

There is currently no evidence to indicate that our work would impact negatively on the nine protected characteristics or socio-economic considerations. It is anticipated that our Action Plan will impact positively through enabling more effective care for people with rare conditions, some of whom will be living with life-limiting disabilities that could have more pronounced impacts if care were not improved. Our Action Plan will be kept under review throughout the lifetime of the UK Rare Diseases Framework so that mitigations against unintended impacts can be put in place where necessary and where possible.