Rare diseases action plan: progress report

4. Awareness raising

Increasing awareness of rare conditions amongst health care professionals is key to the success of our Action Plan. Healthcare professionals who have a basic awareness of rare conditions will support better diagnosis, coordination of care and access to specialist treatment and drugs. As there are over 7,000 rare conditions it is not possible for healthcare professionals to receive comprehensive training on every condition. It is therefore important that they are aware of rare conditions more broadly and are alert to considering them.

Action 4: Improving information about rare conditions on NHS Scotland platforms

We have worked with NHS Inform to develop a patient information page for rare conditions. This is a significant step forward in providing patient-facing information at a national level. Due to the number of rare conditions, we know it won’t be possible to have bespoke information for each condition. However, it is still important that those living with a rare condition, or waiting to receive a diagnosis, have access to information and are signposted to places for support. We know this could be the difference between a person dealing with their diagnosis alone or accessing support groups and information. The page contains information on living with a rare condition as well as signposting to organisations such as Genetic Alliance UK and the Office for Rare Conditions Glasgow. We hope this page will become a useful resource for those living with a rare condition, their families and those who support them. We will continue to revise the content over time, based on feedback, to ensure it meets the needs of the community.

Action 5: Optimising Rare Disease Day

We continue to support and champion Rare Disease Day, as we recognise how important it is for those living with a rare condition. In addition to supporting a number of Scottish and four-nation events, we lit up Scottish Government buildings to mark the event on Thursday 29 February. The Minister of Public Health and Woman’s Health also published an open letter to the rare disease community in Scotland to highlight the Scottish Government’s continued commitment and support to those living with a rare condition.

Two days prior to Rare Disease Day, the Minister also renewed the Scottish Government’s commitment to those living in Scotland with a rare condition, speaking at a reception hosted by Genetic Alliance UK/Rare Disease UK. The event heard from those living with a rare condition, and also showcased pioneering research into rare conditions. We will continue to look for opportunities to showcase all of the great work that clinicians, researchers and other healthcare professionals do to improve the lives of people living with rare conditions in Scotland, as well as listening to the community themselves. Rare Disease Day is the perfect opportunity to promote this work and the voices of the community; that shouldn’t stop us from seeking opportunities all year round.

Action 6: Working with NHS Education for Scotland

There have been some initial discussions with colleagues in how we will approach working with NHS Education for Scotland (NES). We know that effective change takes time in providing educational resources for rare conditions but will continue progressing work in this area whenever possible.

We will continue to explore opportunities to work with NES to ensure that education on rare conditions is embedded within the curriculum for all healthcare professionals, which will be integral to improving outcomes for people and in ensuring a skilled and capable workforce underpins the design and delivery of services.

The Scottish Government funded Genetic Alliance UK and the Office for Rare Conditions Glasgow to develop a survey in order to understand the current education level and needs of health care professionals in this area and we will consider how to take forward these findings in the coming year.

Action 7: Enabling opportunities for third sector organisations to raise awareness of rare conditions

It is important that people living with rare conditions in Scotland have the opportunity to not only hear about the work underway to deliver Scotland’s Action Plan, but to have an opportunity to have a meaningful say in the development of this work going forward. A fresh programme of online events, hosted by Genetic Alliance UK, is now underway. Open to those living with, or affected by, rare conditions, these online events are seeking to:

• Describe and explain the work that has been progressed to date. This will showcase the many developments that have been made and will also be an honest reflection of the challenges of delivering change in the field of rare conditions.
• Understand how we can better inform healthcare professionals about rare conditions. We’ll be asking those with experience living with a rare condition to help us shape new education and awareness raising materials for healthcare professionals in NHS Scotland.
• Explore how improvements can be made in the experience of care for people living with non-genetic rare conditions.
• Understand the experiences of primary and emergency care from a rare conditions perspective. This will help us continue to shape resources for healthcare professionals and help us input to the Scottish Government’s work on shaping Future Care Planning.

Two events took place in March 2024, and we have already been considering the useful feedback from those who took part. Key points for our consideration included:

• Whilst those in the community welcomed our transparency around financial circumstances, it should not be forgotten that faster diagnoses, fewer appointments and a reduced disease burden all save money.
• More information on rare conditions for healthcare professionals to access, ideally in a one-stop location, is needed.
• Attendees were generally supportive of Future Care Planning (see Action 10).
• Several people spoke to their experience of living with a rare condition impacting upon their mental health, including the strain of ‘fighting to be heard’. The toll of researching their own condition, and attending multiple appointments and specialists, was also a factor.
• Scotland-specific clinical pathways were highlighted as a key need that would help address all four key priorities: lead to faster diagnoses, increase awareness, help co-ordinate care and improve access to specialist care. Pathways also smooth the experience of care, easing the burden on the individual who lives with the condition.

Action 8: Understanding and acting on the information needs of health care professionals to raise awareness of rare conditions

In 2023, the Scottish Government supported Genetic Alliance UK and the Office for Rare Conditions Glasgow to develop and distribute a rare conditions survey amongst staff in NHS Scotland. The survey sought to understand how healthcare professionals from across all disciplines and NHS Boards approach supporting their patients with rare conditions. Questions were asked relating to training, access to information and knowledge of diagnosis, and clinical and referral pathways. The aim of these questions was to try to identify what healthcare professionals need to help them improve the care they give to people living with rare conditions. Whilst work is underway to extrapolate the valuable information from over 350 responses to this survey, we have already been able to identify some key messages. These include:

• Most respondents had not received generic rare condition training, or rare condition-specific training in their career. For the few that had, the training had proved highly beneficial and had impacted how healthcare professionals delivered care.
• Healthcare professionals cite the lack of clear diagnostic, clinical and referral pathways as the most significant barrier to supporting people with rare conditions. They note that it can often be frustrating and time consuming to search for this information and this can lead to delays in patients accessing the appropriate services, experts and treatments.
• Healthcare professionals can find it difficult to access reliable information on rare conditions to inform the advice they give to their patients. They can also find it difficult to source relevant support organisations and information for patients. Healthcare professionals often lack the confidence to signpost to information from support organisations for rare conditions.
• Healthcare professionals would benefit from an NHS Scotland held, repository-style resource where they could access reliable sources of information on rare conditions (including information on available medicines, clinical trials and relevant support organisations) and access clinical and care pathway information for rare conditions.

A report on the findings of this survey will be produced in Summer 2024 to inform our work.