Explained: The Scotland Rare Disease Action Plan

12th January 2023

So...what exactly is the Scotland Rare Disease Action Plan?

The Scotland Rare Disease Action Plan was launched on 19th December 2022 and sets out the four key priority areas (outlined below) that aim to support the delivery of the UK Rare Disease Framework.

The Four Key Priority Areas:

Ensuring patients get the right diagnosis faster

Increasing awareness of rare diseases among healthcare professionals

Better coordination of care

Improving access to specialist care, treatment, and drugs

But what do these priority areas actually mean and how do they apply to people living with Inherited Metabolic Disorders (IMDs)? Read on to find out more about each of these priority areas and the actions to achieve them.

Priority area one: Ensuring patients get the right diagnosis faster

There are three actions that aim to meet the goal of priority area one, these are:

The Implementation of Genome UK:
Genome UK aims to bring together the latest advances in genetic and genomic science, research and technology through collaborations between the government, NHS and researchers to improve patient care. Using Whole Genome Sequencing, Genome UK aim to advance knowledge of genetics and genomics to improve diagnostics and an understanding of rare conditions, and thus improve care for patients with rare disorders.

Why does this matter?
Patients of rare disorders often experience what is known as a diagnostic odyssey, describing the long period of time before a diagnosis is received, this could include several misdiagnoses. In reducing the time to receive a diagnosis, care and treatment can be offered and given quicker which improves quality of life and, in some cases, prognosis.

Newborn Screening:
The Scotland Rare Disease Plan aims to ensure Scotland’s continued participation within the UK National Screening Committee that uses research evidence, pilot programmes and economic evaluation to assess national screening programmes. Scotland’s participation within the UK National New-born Screening Pilot is to be evaluated, including the benefits and risks of implementing new-born genomic screening to accelerate diagnosis and enable earlier access to treatments for rare genetic conditions.

Why does this matter?
Information on new-born screening will be easily accessible for those in Scotland, equipping the rare disease community with information on screening policies and the processes involved, and how it can benefit them and their families.

Expanding the functionality of the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS)
Congenital conditions include differences to the body structure or function during development in the womb and are often considered rare disorders. The Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS) will register babies affected with a congenital condition and eventually register babies with other rare disorders so that, in time, better care plans and services can be offered to individuals with congenital conditions and rare diseases, and their families. It is hoped that this register will also allow for a better understanding of the impact of antenatal screening, further research into these conditions, and support prevention where possible.

Why does this matter?
Having access to better data on rare disorders can help clinicians make better informed decisions on care, prevent disease and also allow better access to research and clinical trials. While those currently living with a rare disorder won’t access CARDRISS, babies born from the introduction date will see improved care and support as will their families.

Priority area two: Increasing awareness of rare diseases amongst healthcare professionals

There are five actions that aim to meet the goal of priority area two, these are:

To improve information about Rare Disease on NHS Scotland platforms
Using NHS Inform, a key platform for hosting NHS information and a first point of call for those seeking advice and information, information about rare disorders will be improved and people will be better signposted to places for support prior to and following diagnosis, with the recognition that due to the volume of rare disorders bespoke information will not be possible.

Scotland will also work will third sector organisations including Genetic Alliance UK and their Patient Voices Advisory Group to develop materials for the NHS Inform platform and inform of what they would expect to see on a national platform about rare disorders

Why is this important?
The better information on rare disorders that the NHS Inform contains, the more informed individuals living with rare disorders, those seeking a diagnosis, and their families can become, with clear signposts to other places of support including third sector organisations that can provide bespoke advice and information. Healthcare professionals are also able to become better informed, allowing them to offer more relevant treatments and management of care.

To optimise rare disease day
Scotland recognise the importance of maximising awareness of rare disorders and their impact and have supported Rare Disease Day in the past through Parliamentary events, lighting up building and publishing an open letter to the rare disorder community. Scotland wants to continue to raise awareness of rare disorders on Rare Disease Day and will optimise this by working with stakeholders to develop multiple engagement events for clinicians, senior leadership in NHS Boards and those working with primary care to better reach those who have not yet gained some awareness of rare disorders.

Why does this matter?
By optimising awareness to those who are not yet aware of rare disorders and their impact on individuals and families, especially those working within the NHS and care services, opportunities for improvements in care and support can be offered.

To work with NHS Education Scotland
NHS Education Scotland is found within NHS Scotland to develop and deliver healthcare education and training for those in the NHS, health and social care sector and other public bodies including having a national impact on undergraduate and postgraduate studies.

Over the next 12 months, Scotland will work with NHS Education Scotland to review current rare disorder training and education material that has already been developed by the likes of Genetic Alliance UK and Medics 4 Rare Disease to consider where best to host these training and material to ensure optimal recognition and awareness to Healthcare professionals. One key platform that will be used is Turas, a digital platform developed by NHS Education Scotland to support health and care professionals working in the public sector.

In the medium term, rare disorder training will be linked with Continuing Professional Development points that measure the quality of these activities to ensure maximum uptake by healthcare professionals.

In the long term, Scotland will include basic training on rare disorders in undergraduate and postgraduate curriculums as to significantly improve awareness of rare disorders early on in the education pathway for healthcare professionals, particularly those in nursing and GP training.

Why does this matter?
Healthcare professionals will have access to key information and training that will allow them to better support the full patient journey, and including rare disorder awareness early on in relevant education pathways will improve an understanding of rare disorders and therefore allow for individuals to access relevant care quicker.

To enable opportunities for third sector organisations to raise awareness of rare diseases
Scotland recognise the importance of third sector organisations in increasing awareness of rare disorders and wish to form partnerships with relevant third sector organisations to utilise existing platforms such as NHS Scotland events and conferences to increase rare disorder awareness. In forming partnerships with relevant third sector organisations, Scotland aims to amplify the voices of those most affected and share lived experiences of rare disorders to those working with these patients on a daily basis, and work with Medics 4 Rare Diseases to survey the awareness and understanding of rare disorders amongst medical students to understand where there are gaps and what can be done to address them.

Why does this matter?
In forming partnerships with third sector organisations that already have a strong connection with the IMD community, Scotland and the healthcare professionals they aim to reach through awareness activities will develop a better understanding of lived experiences, gaps in processes and therefore how to improve support, care and management plans for those living with rare disorders.

To increase understanding and acting on the information needs of Health Care Professionals to raise awareness of rare diseases
Scotland will work with Genetic Alliance UK and the Office of Rare Conditions to improve their understanding of what healthcare professionals need to improve their awareness of rare diseases. Genetic Alliance UK will develop a survey to understand healthcare professional’s views of rare conditions, assess their level of awareness and identify gaps in information needs. These findings, including how to address the gaps identified, will be distributed to the Office of Rare Conditions and wider NHS Scotland networks to inform the development and distribution of information materials.

The Rare Resources Professionals Guide, that signposts healthcare professionals to reliable sources of information, will be redeveloped by Genetic Alliance UK and the Office of Rare Conditions and promoted through posters and business cards in healthcare settings.

Scotland will also work with Genetic Alliance UK and the Office of Rare Conditions to develop a programme of events and activities for Rare Disease Day 2023 to improve awareness of rare conditions with NHS Scotland staff.

Why does this matter?
By redeveloping resources that provide medical students and healthcare professionals with information on rare disorders, the profile of rare disorders will increase. Increasing the profile of rare disorders will reduce diagnostic odysseys and allow for better and quicker access to the treatment and care that they require.

Priority area three: Better coordination of care

There are six actions that aim to meet the goal of priority area three, these are:

To test a change in coordination of care services
Scotland aim to continue their process of identifying a suitable coordination of care model for use in Scotland. Using the recommendation that coordination of care should be improved in UK Rare Diseases Framework, the Improving Care for Rare Conditions in Scotland report published by the Scottish Parliament Cross Party Group on Rare, Genetic and Undiagnosed Conditions and the COordiNated Care of Rare Diseases (CONCORD) study, Scotland aim to find a future care coordination service for people living with rare disorders that reduces the care burden on these individuals and their families. They have begun this process by introducing a Care Coordination Working Group in 2021 as part of their Rare Disease Implementation Board; this working group has identified successful care coordination models already.

Why does this matter?
Having an improved model of care coordination implemented in Scotland will mean that people living with rare diseases will have fewer wasted appointments, benefit from the expertise of multi-disciplinary care, experience shorter diagnostic odysseys, and ultimately benefit from care that is better tailored to their needs.

To improve the use of  Anticipatory Care Plans
Anticipatory Care Plans involve considering what is important to the individual and using these to form plans for their care in the future, this can be with family members, carers and health and social care professionals. These discussions can be had as often as required, for example if the individual’s condition changes or if they develop additional needs. ACPs allow for quick decisions to be made based off of what the individual has expressed previously.

Scotland already have several information resources related to Anticipatory Care Plans including on the Healthcare Improvement Scotland’s ‘iHub’ website, but want to encourage the take-up of ACPs among healthcare professionals and signpost this information to clinicians and teams who care for people living with rare disorders.

In the next 12-18 months, Scotland will work with Healthcare Improvement Scotland and third sector organisations to improve ACP information and resources that relate to rare disorders and other neurological conditions. They will also promote the use of ACPs in future training and education.

Why does this matter?
By discussing what matters to those living with IMDs with the patients themselves and clearly noting this, healthcare professionals involved in their care and treatment from multi-disciplinary teams can identify and better provide coordination of care for that individual.

To utilise digital patient passports
Digital patient passports are a way to hold information about a person’s needs, priorities for their care and their life and family. These digital passports, stored in the style of an e-book, allow for multiple healthcare professionals and specialisms to be made aware of the same key information about a patient.

Scotland will work with third sector organisations who have used patient passports to understand how they could be promoted for use by people living with rare disorders, their families and healthcare professionals.

One way offered to best offer digital passports is using the PAMIS passport which is a free, flick-through e-book that can be displayed on computers and phones. Each PAMIS passport contains information about one person and uses video, photography, sound and text to help that person express their needs. The individual who owns the passport can easily share it with those they choose.

Why does this matter?
By offering and increasing the uptake of digital care passports, patients won’t have to spend as much time explaining their condition and their needs to each healthcare professional they meet with because they will be privy to the same relevant information that is available for all other healthcare professionals the patient interacts with too. This allows for more time to be spent addressing what was planned in appointments and meetings.

To support the implementation of: It’s OK to Ask
The ‘It’s OK to Ask’ campaign was launched in 2021 to encourage discussion between patients and healthcare professionals. The four key questions encouraged to be asked included: What are the benefits of my treatment? What are the risks of my treatment? Are there any alternative treatments I can try? What if I do nothing?

The aim of this campaign was to get patients to know the right questions to ask at healthcare appointments in order to make a better-informed decision on their treatment and care, and offered a printable leaflet for patients to take to appointments.

Scotland want to promote this campaign further, encouraging the take-up of this campaign as widely as possible. In doing so, Scotland aim to assist healthcare professionals in better knowing their patients, and to improve transitions from paediatric to adult care.

Why does this matter?
Once diagnosed, people living with an IMD or parents of children with IMDs often come to appointments with a high level of knowledge of their condition and care. By encouraging them to ask the questions from this campaign, they are able to clarify what their priorities for care are, focus the appointment time and get the most out of appointments.

To improve the Scottish mental health strategy
The Scottish Government’s Mental Health Strategy 2017-2027 was published in 2017 and set out actions to be achieved with the ambition of preventing and treating mental health problems with the same commitment, passion and drive as is done with physical health problems.

The Scottish Government committed to reviewing and refreshing the Mental Health Strategy in 2022 and this will extend to persons living with rare disorders using lived experiences and the voice of those living with a rare disorder to produce a refreshed strategy. They received insight as to what mental health challenges people living with rare disorders experience and were informed of a need for more tailored mental health support at all stages of their diagnostic odyssey from Rareminds.

Scotland will work with Genetic Alliance UK and other organisations to develop downloadable Mental Health resources for those living with a rare condition.

Why is this needed?
Promoting a more tailored approach of mental health services to people with IMDs will improve integration of care and quality of life.

To continue to promote and embed person centred care
Healthcare Improvement Scotland lead a programme called the Person-Centred Health and Care Collaborative that supports people to develop the knowledge, skills and confidence they need to make better-informed decisions and to be fully involved in their own health and care. The collaborative provides a framework for change and to encourage reliable testing and implementation, sharing and learning across the country.

Improvements to person-centred care will be promoted and supported through a framework of five key principles: What matters to you? Who matters to you? What information do you need? Nothing about me without me. Personalised contact. Once embedded within regular practise at appointments, this programme of work will allow for a truly person-centred approach for every person affected by rare disorder.

Why does this matter?
By attending appointments that practise these five principles, people with IMDs will get the most out of every consultation and have their wishes and priorities at the centre of the conversation.

Priority area four: Improving access to specialist care, treatment and drugs

There are four actions that aim to meet the goal of priority area four, these are:

To recognising the role of specialist services

Specialist services provide high quality management and operation support through the NHS National Services Scotland on behalf of NHS Boards and the Scottish Government to enable them to focus on adding value to healthcare in Scotland through better access to specialist care. Specialist services bring together everyone involved in providing care when the full range of skills required isn’t available within a single health board.

It is important to recognise the role of specialist services for people living with rare disorders because a lot of rare disorder patients access these services. Scotland will also work to understand what is offered across the country in way of non-commissioned specialist services to better improve the offering and awareness of these services

What does this mean?
People living with IMDs often access specialist services or will need to in the future. By recognising which specialist services are offered, the awareness of these services and the impact they have on those with rare disorders, there will be an improved coordination of services and engagement of the rare disorder community.  

To continue to utilise the ultra orphan pathway for medicines
Ultra-orphan diseases are conditions that affect fewer than 1 in 50,000 and therefore tend to have no or very few medicines available to treat the condition. Medicines introduced to treat these conditions often have difficulty being approved through traditional health technology assessments due to the limited number of patients available to take part in clinical trials, which raises questions of efficacy and cost effectiveness.

The Ultra-Orphan Pathway was launched in 2018 to support people living with ultra-orphan disorders to receive faster access to new and innovative medicines. Since its launch, a number of medicines have become available through this pathway and will continue to support patients to receive faster access to new medicines for rare disorders.

What does this mean?
Better access to new medicines will improve treatment and care for people who can benefit from these developments. Continuous engagement with the rare disorder community will also ensure that new medicines take into account the community’s priorities.

To work on a “digital front door”
The Digital Health and Social Care Plan sets out a number of actions that those living with rare disorders will benefit from by improving access to care, reducing the burden of care coordination and improving access to relevant information. The Digital Front Door offers a key enabler for the actions set out in the Digital Health and Social Care Plan to be successfully achieved.

Using the Digital Front Door, people will be able to book or rearrange appointments, order prescriptions, update their details and generally conduct routine ‘transactions’ online. This will also allow for people to access health assessments, diagnosis, monitoring and treatments, as the pandemic has shifted many healthcare consultations and appointments online.

What does this mean?
In continuing to use digital elements in healthcare following the pandemic, appointments can be more easily accessed from home should a patient choose to do so, allowing for a decrease in travel and time.

To increase clinical research for rare disease
Clinical research refers to the studies of new and innovative advances in healthcare to determine the efficacy and safety of medicines, devices, diagnostic processes and treatment regimens. These advances can improve prevention, treatment, diagnosis or condition management.

It is recognised that there are challenges included in hosting clinical research for rare disorders in Scotland, including distances between clinical research centres and the low population density which makes equitable access to clinical trials more difficult to achieve. However, the Network of Clinical Research Centres in Scotland, and the development of the Congenital Anomaly Register (CARDRISS) both provide an opportunity to develop new approaches that can improve access to interventional and observational clinical studies for patients.

The three areas of focus to improve clinical research opportunities include developing a Scottish Register for Rare Diseases, improving networking of research across Scotland, and developing Genomics research infrastructure.

Why does this matter?
In making it more accessible to engage with the wider research related to their conditions, people living with IMDs will help identify new treatments and develop faster diagnoses.

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Written by Megan Fryer-Kelsey

Hi, I’m Megan and after taking my university placement year with Metabolic Support UK, I am now working part-time as MSUK’s Project Assistant alongside my studies. I’m able to extend my passion for human rights in a practical environment by being involved in a variety of projects alongside other team members to provide indispensable services to the community.

Having observed and experienced the benefits of MSUK from a sibling perspective myself, starting my career path with MSUK is very inspiring and I look forward to having a role as it develops.

Checked and formatted by Jonathan Gibson

Hi, I’m Jonathan and I work as the Policy and Public Affairs Officer for Metabolic Support UK.

My background is in genetics and global health and I’ve also worked for the NHS within a busy biomedical science laboratory for over four years undertaking the analysis of samples to ensure you receive the right treatment and diagnosis.

As a creative and compassionate individual, this really is my dream job so I look forward to working closely with the team and our community to tell the stories of IMDs to the world.

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