Rare diseases action plan - progress report: business and regulatory impact assessment

Business and Regulatory Impact Assessment

1. Title of Proposal

Progress Report on Scotland’s Action Plan for Rare Diseases

2. Purpose and Intended Effect

2.1 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.

2.2 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 work with 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.

2.3 Rationale for government intervention

Scotland’s first Action Plan for Rare Diseases was published to meet the agreed outcome for each nation under the UK 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)

3. 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 and 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.

4. 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.

5. Options

5.1 Option 1 – publish Progress Report and continue to implement Rare Disease Action Plan

Our Action Plan outlined the actions that would need to be implemented to improve the lives of people with a rare condition, and in its first iteration (published December 2022) focused on the subsequent 12-18 months. Now that this time has passed we are publishing our first review; despite ongoing financial and resource pressures progress is notable, and this will maintain confidence among our stakeholders and people living with a rare condition that we are continuing to act on their priorities.

This report also outlines our priorities for the coming year, the successful implementation of which will further our four key priorities of people living with a rare condition being able to have faster diagnoses; healthcare professionals having greater awareness of rare conditions; people experiencing better co-ordination of care and having improved access to specialist care.

5.2 Option 2 – do nothing

Failure to continue this work would result in services and care experiences in Scotland for people with a rare condition falling further behind those in the rest of the UK (where nation-equivalent Action Plans are in place in UK Government and other devolved nations), with poorer outcomes for patients in Scotland as a result.

Relations with stakeholders and with the rare community would be damaged, and the wide perception would be that we have not listened to what is important to the people whose lives and healthcare we are supposed to be working for. From the outset, our Action Plan has been described (including by Ministers) as an iterative process and all our stakeholders are expecting to see progress.

6. Sectors and groups affected

Any person within the Scottish population who lives with a rare condition and their families; healthcare professionals (potentially all, but particularly in primary care when patients may present with unfamiliar symptoms), third sector organisations who advocate for people with rare conditions.

7. Benefits

7.1 Option 1

Publishing our Progress Report and continuing to implement our Action Plan would maintain positive relations with our stakeholders and with the rare community. We have pledged to continue to work to the priorities of the community and working to provide faster diagnosis, increased awareness among professionals, better co-ordination of care and improved access to specialist care will ensure that the lives of people living with a rare condition in Scotland continue to improve.

7.2 Benefits – Option 2

None. Failure to implement would result in poorer health outcomes, and Scotland falling further behind the rest of the UK in care provision for people living with a rare condition.

8. Costs

8.1 Option 1

The only substantial investment related to our work is that related to genomic testing and underlying infrastructure; this is covered separately in Genomics in Scotland: Building our Future: A five-year national strategy (2024-2029) Business and Regulatory Impact Assessment. The genomic testing work builds a robust digital infrastructure that more people in Scotland will be able to benefit from, leading to faster diagnosis of rare conditions. The wider implementation of Scotland’s Genomic medicine strategy (2024-2029) will transform the potential of genomic medicine across Scotland, enabling better treatment and care for many people with rare conditions.

The remainder of the actions in our Action Plan so far have focused, by necessity, on progress that can be made at low or neutral cost. A small budget for rare conditions work is likely to be used to develop video resources with NHS Education for Scotland, to progress our awareness raising priority among healthcare professionals. The successful implementation of this would improve consultations in primary care by encouraging healthcare professionals to ‘think rare’.

8.2 Costs – Option 2

Failure to progress our rare disease work would prevent the identified benefits from benefitting people living in Scotland living with a rare condition. We would fall further behind counterparts in the UK and other devolved administrations in diagnosis, care co-ordination and access to specialist care, and the challenges identified with healthcare professionals’ knowledge of rare conditions would remain. This would result in greater wastage in appointments, putting further strain on healthcare services.

9. Regulatory and EU Alignment Impacts

9.1 Intra-UK Trade / International Trade

We do not believe this Action Plan and Progress Report have a significant impact on either.

9.2 EU alignment

This strategy should have no adverse impact on the Scottish Government’s policy to maintain alignment with the EU. A key aim of our stakeholders’ work on the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS) registry is to pursue data alignment with other registries in the UK and in Europe. CARDRISS is a member of the European network of congenital condition registers (EUROCAT).

10. Scottish Firms Impact Test

We do not believe this Action Plan and Progress Report have an impact on Scottish firms.

11. Competition Assessment

This Action Plan and Progress Report should have no impact on the competitiveness of Scottish companies within the UK, in Europe or the rest of the world.

12. Consumer Assessment

This Action Plan and Progress Report will not have a negative impact on consumers.

13. Test run of business forms

No new forms are being introduced because of this work.

14. Digital Impact Test

Our approach to digital health will be guided by the Digital Healthcare Strategy (2021) including the development of the Digital Front Door, which will be a key enabler for people interacting with health and social care services in Scotland.

15. Legal Aid Impact Test

This Action Plan and Progress Report are not creating new rights or responsibilities, and do not have a bearing on Legal Aid.

16. Enforcement, Sanctions, and Monitoring

This Action Plan and Progress Report do not propose regulations or legislation therefore enforcement and sanctions will not be required. Oversight of our progress will continue to be monitored by Scotland’s Rare Disease Implementation Board.

17. Implementation and Delivery Plan, including post-implementation review

This Progress Report is our first review of Scotland’s Action Plan for Rare Disease (2022). From the outset, we have specified the intention that our Action Plan will be an iterative process, and further progress will be reported in due course along with any further adjustment of our priorities as we continue to engage with the rare community and third sector who advocate on their behalf.

18. Summary and Recommendation

It is recommended that Scotland’s Action Plan for Rare Diseases continue to be implemented, and that our stakeholder and community engagement continue. This will result in people living with a rare condition in Scotland benefitting from faster diagnoses, increased awareness among healthcare professionals, better co-ordination of care and improved access to specialist care. All of this will lead to better healthcare outcomes for this patient group.

19. Declaration and Publication

I have read the Business and Regulatory Impact Assessment, and I am satisfied that (a) it represents a fair and reasonable view of the expected costs, benefits and impact of the policy, and (b) that the benefits justify the costs. I am satisfied that business impact has been assessed with the support of businesses in Scotland.

Signed: Lynne Nicol, Deputy Director, Planning and Quality

Date: 6 August 2024

Minister’s name: Jenni Minto MSP

Minister’s title: Minister for Public Health and Women’s Health

Scottish Government Contact point: alan.burns@gov.scot