Rare diseases action plan - progress report: island communities impact assessment

Island Communities Impact Assessment

Policy/strategy

Action Plan for Rare Disease (2022)

Progress Report on Scotland’s Action Plan for Rare Diseases (2024)

Minister

Jenni Minto MSP, Minister for Public Health and Women’s Health

Directorate: Division: Team

Directorate of the Chief Operating Officer, NHS Scotland: Healthcare Planning and Quality Division: Rare Disease policy team

Is this new policy of revision to an existing policy?

Progress report on existing policy

1. Introduction

This is a summary of the Island Communities Impact Assessment (ICIA) conducted on our first review of Scotland’s Action Plan for Rare Diseases. This ICIA has been carried out in accordance with the provisions of the Islands (Scotland) Act 2018 (“Islands Act”). The Islands Act places a duty on the Scottish Ministers and other relevant authorities, including a number of public authorities, to have regard to island communities in exercising their functions. This duty is often referred to as ‘island-proofing’.

Island communities have unique needs and this impact assessment enables identification of how elements of the strategy can be shaped to meet such needs. It is recognised that it can be more difficult to access health services, particularly specialist services for people living with a rare condition, on an island. The consequences of geography can create particular problems for island communities, including a higher general cost of living which can lead to higher levels of poverty, as well as more expensive and more complex transport options and poorer internet connections.

There are also demographic concerns, including an aging population, and social and cultural issues, such as shortage of appropriate and affordable housing, dispersed deprivation, and challenges with alcohol misuse. Recruitment of suitably qualified and experienced staff can also be a significant challenge alongside the need to support incoming staff in their new environment. All of these issues can exacerbate the problems and inequalities faced by already vulnerable people who have been diagnosed with a rare condition.

The findings in this summary are based on desk-based research.

2. 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.

3. 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 Disease 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.

4. Rationale for Government Intervention

Scotland’s first Action Plan for Rare Diseases was published to meet the agreed outcome for each nation under the Rare Diseases Framework as noted, but also to refresh our approach to rare conditions. Rather than have a static strategy with a large list of commitments that can quickly become obsolete, we committed to an iterative process so our Action Plan and subsequent progress reports can remain agile to new developments.

Furthermore, intervention was required to increase awareness of rare conditions among healthcare professionals. This priority is key to all others as it enables faster diagnosis, co-ordinated care and improved access to care. Our work is relevant to meeting the National Outcome that “we are healthy and active”, through improving the lives of people with rare conditions and easing the burden of their condition and the care it requires.

Delivery of this strategy will also be interdependent with a range of other plans in health and beyond, including:

• NHS Recovery Plan (2021)
• National Workforce Strategy for Health and Social Care (2022)
• Digital Health & Care Strategy (2021)
• Cancer Strategy for Scotland 2023-2033
• Mental Health and Wellbeing Strategy (2023)
• Genomic Medicine Strategy (2024)

5. Consultation

5.1 Within Government

In the development of Scotland’s Action Plan for Rare Diseases and the subsequent Progress Report, we have engaged internally with relevant policy teams as week as other public sector partners. These include:

• Chief Scientist Office
• Chief Nursing Officer/Allied Health Professionals
• Digital Health and Care
• Pharmacy and Medicines
• National strategies/specialist healthcare
• Diagnostics
• Person-centeredness and participation
• Realistic Medicine
• Mental Health Strategy

We also engaged with governance and stakeholder groups, including:

• NHS Education for Scotland
• NHS Inform
• Healthcare Improvement Scotland
• Public Health Scotland
• UK Rare Diseases Framework Board & Forum

5.2 Public consultation

We did not carry out or identify any need to carry out a public consultation as part of the development of our Action Plan or Progress Report. As our focus is on improving the lives of people living with rare conditions, extensive engagement with this community was carried out through Genetic Alliance UK both in the drafting of our Action Plan and more recently to ensure that we are still grounding their priorities in our work.

5.3 Business/Third Sector

Industry engagement tends not to be a direct feature of our policy work thus far; however, we work closely with colleagues such as those in medicine policy to keep informed of any relevant engagements or developments.

Our third sector engagement has been 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.

6. Data and Evidence

Our vision is that anyone living with a rare condition in Scotland is able to access equitable care, and access services and support regardless of condition or where they are in Scotland.

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.

7. Key findings

The National Clinical Strategy for Scotland recognises that the co-ordination and delivery of health and social care in remote and rural areas presents very significant challenges. The small island populations cannot sustain specialist services. However, it highlights that the opportunities presented by digital solutions are important in increasing equitable access to services as well as noting that there is a need to preserve high standards of specialist skills, which means that patients will need, on occasion, to travel for care and treatment.

Ambitions with the Action Plan focus on improving the lives of those living with a rare condition, regardless of where they live in Scotland.

Specialist and highly specialist healthcare services treat patients living with a rare condition or who have highly specialist needs. National Services Directorate (NSD) currently commission more than 60 national designated specialist services on behalf of Scottish Government and NHSScotland’s health boards. These services are therefore not available in every hospital because they can only be delivered by teams of doctors, nurses and other health professionals who have the necessary training, skills and experience. However, patients from across Scotland have equitable access to the service.

We expect local Health Boards to have arrangements in place to allow people to travel. The Scottish Government continues to provide help with travel costs if eligible patients need to attend hospital for NHS treatment and extra help is provided to those living in the Highlands and Islands, if eligible.

There are other wider Scottish Government initiatives to better support people across Scotland:

• Implementation of the Genomics Health Strategy which is aiming to ensure that there is greater access to healthcare data and better insights because of genomic information.
• Working alongside initiatives under the Digital Healthcare Strategy to enhance digital provision for people interacting with health and social care services in Scotland such as Near Me video consulting
• More equal access to diagnostic and treatment services as well as clinical trials, in conjunction with the Cancer Policy, the Genomics Health Strategy and the Equity of Access to Commercial Clinical Trials working group.
• Exploring delivery models to ensure equitable access to genomic testing irrespective of location and reducing the need for patients to travel to access trial sites or specialist centres

8. Conclusion

Several initiatives are already in place, and will be further developed, to address the issues that come with living in island communities. We recognise that additional support is likely to be required to ensure island communities receive equity of access and service delivery to specialist services and co-ordinated care, and better access to research and clinical trials for rare conditions. We recognise that there is potential for different islands to need bespoke approaches and we are committed to working with relevant Health Boards to decide how best to engage with island, remote and rural communities to address their specific concerns and needs.

9. Performance measurement

Further iterations of our Action Plan and/or Progress Reports will be published in the coming years, detailing actions that have been completed to improve the lives of people living in Scotland with a rare condition, and new actions added. We will keep listening to the rare community to ensure that we are acting on their priorities, including for those living in more remote or rural parts of Scotland.

This impact assessment should be read in conjunction with assessments developed in parallel, including:

• Equality Impact Assessment (EQIA)
• Children’s Rights and Wellbeing Impact Assessment (CRWIA)
• Business and Regulatory Impact Assessment (BRIA)
• Fairer Scotland Duty (FSD)

10. Publishing

This impact assessment will be published on the Scottish Government website.

11. Accountability

A review of this impact assessment can be requested in terms of The Island Communities Impact Assessments (Publication and Review of Decisions) (Scotland) Regulations 2020.

12. Authorisation of the ICIA

ICIA completed by:

Alan Burns

Rare Disease Policy Lead

Date completed:

18 June 2024

ICIA approved by:

Lynne Nicol

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

Date approved:

8 August 2024