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Publication - Report

Rare Disease Scotland: progress report

Published: 28 Feb 2018
Part of:
Health and social care

An update on the work carried out in Scotland against the 51 Commitments in the UK Strategy for Rare Diseases.

83 page PDF


83 page PDF


Rare Disease Scotland: progress report
3. Diagnosis And Early Intervention (11 – 22)

83 page PDF


3. Diagnosis And Early Intervention (11 – 22)




Work to achieve reduced times for diagnosis of rare diseases, whilst acknowledging that more needs to be done to ensure that undiagnosed patients have appropriate access to co-ordinated care e.g. to help disabled children who are thought to have a genetic syndrome or condition that science has not yet identified.


Work with the NHS and clinicians to establish appropriate diagnostic pathways which are accessible to , and understood by, professionals and patients, by:

  • establishing clear, easily accessible and effective pathways between primary care, secondary care, regional centres and specialist clinical centres, as appropriate;
  • putting protocols in place to identify patients with no diagnosis, ensuring that a lack of diagnosis does not create a barrier to treatment;
  • drawing on patients’ ability to help inform decisions about referral and diagnosis;
  • creating effective clinical networks to support this process;
  • making high quality diagnostic tests accessible through common, clinically agreed systems or pathways; and
  • embedding appropriate information in national data systems including measuring equity of access to molecular tests to maintain UKGTN diagnostic studies.


Ensure that there are appropriate procedures for evaluating the costs and benefits of treatments for patients.


Where appropriate, support the availability of computerised prompts to help GPs diagnose a rare disease when a rare disease has not previously been considered.


Improve education and awareness of rare diseases across the healthcare professions, including:

  • involving patients in the development of training programmes;
  • encouraging medical, nursing and associated health professionals to get hands-on experience in specialist clinks; and
  • ensuring awareness of methods and clinical techniques used in differential diagnosis.


Monitor the development of ICD-11 in preparation for its adoption.


Work with colleagues in Europe in the development of the European Orphanet coding system and consider the adoption of Orphanet coding and nomenclature.




Standardise data collection, building on existing NHS data standards, and develop standards where they do not exist, increasing the reliability of information for use in providing or commissioning care.


Explore options to improve the link between existing patient data and electronic health records.


Assess the potential for rare disease databases where they do not exist.


Agree international standards, building on existing UK standards.


Support international links to UK databases and build on the work of current funded programmes that aim to link rare disease research internationally.

3.1 National Managed Clinical Networks & Pathways

As noted in section 1.9 the National Managed Clinical Networks [27] have a key role to develop patient pathways and clinical protocols, often for rare disease conditions. Following from the last biennial report, National Services Division has been supporting the development of pathways for a number of rare diseases. This work has involved patients and clinicians mapping existing services, highlighting gaps and facilitating solutions for identified issues. The common themes from the five rare diseases looked at (Acute Porphyria, Atypical haemolytic-uremic syndrome ( aHUS), Neurofibromatosis type 2, Vasculitis, including Behçets, and Ehlers Danlos Syndrome) are access to specialist services and drugs as well as the coordination of care for complex decisions.

The updates below demonstrate the progress made and challenges faced:

Acute Porphyria

Explanation: What is Acute Porphyria?

Porphyria is the name given to very rare metabolic disorders that occur when your body is unable to produce enough haem. Haem is a component of haemaoglobin which helps transport oxygen around your body and helps form many other important proteins found in all body tissues, but mostly in red blood cells, bone marrow and liver.

Acute Porphyria are Acute Intermittent Porphyria ( AIP). It is the most common form in the UK and the most severe. It can cause serious damage to the liver and kidneys, and in some cases the person may need a liver transplant. Attacks or seizures can also lead to complications such as respiratory failure and can be fatal if not treated. [28]

The overall objective of this work was to improve the clinical management and care of NHSScotlandpatients with AIP who experience an attack or attacks. This involves providing immediate specialist clinical advice to acute care physicians; as well as clinically appropriate support on follow-up after discharge via telephone advice and the delivery of collaborative outreach clinics.

The outcomes are as follows:

  • Scottish Clinicians and patients now have access to NHS England’s National Acute Porphyria Service ( NAPS).
  • A service specification has been agreed between NHS England, NHS Scotland National Services Division and the NAPS.
  • NAPS Scotland has been operational since April 2016, giving clinicians and patients in Scotland access to specialist advice during acute episodes and access to specialist follow-up in Scotland.
  • Work is on-going with NHS Lothian to arrange six monthly NAPS outreach clinics for Scottish patients.

Atypical haemolytic-uremic syndrome ( aHUS)

Explanation: What is Atypical haemolytic-uremic syndrome ( aHUS)

The aHUS website describes aHUS as a very rare disease caused by a fault in the complement system. The complement system is part of the body’s immune response. Your body has a built-in system of protector proteins that stop complement from attacking your own cells. In aHUS, complement starts to attack your own cells, especially those that line the blood vessels, and this leads to clots forming within the small vessles.

The most commonly affected organ is the kidney, but all organs can be affected. If aHUS is not treated it can be life-threatening and the majority of people would develop end stage kidney failure. [29]

The overall aim for this project is to enable access for NHSScotlandclinicians to expert diagnostic and management advice form the aHUS service regarding treatment, including the prescription and withdrawal of Eculizumab. This pathway includes access to confirmatory genetic testing.

The outcomes are as follows:

  • It was agreed that NSD should seek access to the aHUS service commissioned by NHS England, similar to the agreement for Acute Porphyria.
  • It is proposed that the decision to commence a patient on Eculizumab would continue to be subject to an IPTR request made to patients’ health board of residence; however, the assessment for starting a patient on this drug should be carried out by the specialist aHUS service in Newcastle.
  • A service specification and pathway has been developed with clinical input outlining which service components should be delivered in Scotland and the specialist centre respectively.
  • Access to the aHUS service in Newcastle to be added to the Block Service Agreement with NHS England.

Neurofibromatosis type 2 ( NF2)

Explanation: what is Neurofibromatosis type 2?

Neurofibromatosis is the general name for a number of genetic conditions that cause tumours to grow along the nerves.

Tumours are abnormal tissue growths. In neurofibromatosis, the tumours are usually non-cancerous (benign).

Almost everyone with NF2 develops tumours on the nerves responsible for hearing and balance.

Tumours can also develop inside the brain or spinal cord, or the nerves to the arms and legs. This can cause symptoms such as weakness in the arms and legs, and persistent headaches. [30]

Issues to be addressed by this work stream include improving the coordination of care, including access to Avastin, as well as improving access to specialist advice for patients in Scotland.

  • NSD and the Managed Services Network ( MSN) for Neurosurgery held a stakeholder meeting in August 2017 to review a draft pathway for Scotland. Ways to improve co-ordination of care to ensure access to appropriate specialist advice for all patients was discussed at the meeting.
  • There was agreement at the meeting that all treatment decisions for people with NF2 should be subject to input from a specialist Multi-disciplinary team, and all patients should receive appropriate follow-up and monitoring.
  • Work is on-going to set up a national Multi-disciplinary team, to agree a standard of care, which eventually could be audited, and to scope the need for a care co-ordinator.

Vasculitis (including Behçets)

Explanation: What is Vasculitis?

Vasculitis means inflammation of the blood vessels – any blood vessels in any part of the body can be affected. Vasculitis UK suggest that it affects about 2-3000 new people each year in the UK.

Acute Vasculitis can be caused by infections or by reactions to drugs/chemicals. This is usually quite localised (like a rash) and does not need treatment. Other types can be caused by other illnesses such as rheumatoid arthritis or some cancers. [31]

Others can be rare, such as Behçets disease, which can be difficult to diagnose as symptoms are so wide ranging. Symptoms can include genital and mouth ulcers, painful eyes/blurred vision, headaches, painful, stiff and swollen joints. In severe cases there can be life-threatening problems, such as vision loss and strokes. [32]

This work was commenced to address a perceived lack of access and clear signposting to specialist services for people with Behçets Disease in Scotland.

  • A workshop with clinicians in October 2015 highlighted the substantive overlap between this condition and other forms of systemic Vasculitis as these are often managed by the same team of specialists.
  • The Short-Life Working Group ( SLWG) on Vasculits was set up by NSD in May 2016 to assess possible options for improving the care for adults with Vasculitis, by improving collaboration between all professionals involved in delivering care for this patient group across Scotland.
  • The SLWG concluded that of the estimated 2250 adult patients in Scotland with Vasculitis, up to 75% have currently no access to specialist services.
  • A draft report outlining the SLWGs recommendations is currently out for consultation.
  • The SLWG concluded that a national managed clinical network ( NMCN) or other officially endorsed network would facilitate access to specialist support and improve outcomes for all people who live with these conditions in Scotland.
  • This would mirror developments in England where the roll out of Coordinated Networks for Specialised Rheumatology is being supported to improve patient care through the application guidelines, treatment protocols, and policies for access to high cost drugs.

Patient Involvement in Pathway Development

The Scottish Plan for Rare Diseases committed to improving knowledge and appropriate care by developing and publicising of patient pathways for rare conditions and the referral requirement for services in and out of Scotland.

This work has been led by National Services Division, with collaboration where possible with patients and patient organisations. One such example is the development of a patient pathway for Vasculitis.

Vasculitis patient organisations have raised concerns about the difficulties in obtaining correct and timely diagnosis of Vasculitis and subsequently, difficulties in accessing referrals to appropriate care and treatment. To address these issues, the development of a patient pathway was considered.

In 2016, National Services Division established a SLWG to produce a patient pathway for Vasculitis and, importantly, the SLWG has included patient representation throughout the process.

Lynn Laidlaw, a patient with Vasculitis, has been involved in the SLWG and has said ‘the meetings that I have attended have been positive - I have been able to contribute and feel that the other members have both listened and had a genuine interest in what I have had to say’.

Lynn also stated that ‘it was good that patients have been involved in this process - patients often bring different perspectives to clinicians and offer insight to what would improve patient experience and outcomes.’

The patient pathway for Vasculitis development work has also led to the development of regular cross-Scotland clinical meetings to discuss service delivery and complex cases. These meetings will also include involvement from patient representatives, ensuring that the patient experience is reflected in its work.

Ehlers Danlos Syndrome ( EDS)

Explanation: What is Ehlers Danlos Syndrome?

NHS Choices describe Ehlers Danlos Syndromes ( EDS) as “a group of rare inherited conditions that affect connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.

There are several types of EDS that may share some symptoms, including an increased range of joint movement; stretchy skin; and fragile skin that breaks or bruises easily.

EDS can affect people in different ways, for some the condition is mild, while for others their symptoms can be disabling. Some of the rare severe types can be life-threatening.” [33]

In 2016, it became apparent that there is, at present, a lack of clarity as to the referral and treatment pathways for those affected by EDS in Scotland. Patient feedback received also highlighted the difficulties faced when individuals try to access specialist support and care for this condition.

  • A meeting took place in May 2017 to gather and review information regarding the patient needs and identify the current options for people with EDS in Scotland (and the UK). There was agreement at the meeting that the main issues were co-ordination of care and access to specialist advice for people who have been discharged from rheumatology or genetics clinics following a diagnosis of EDS.
  • There was also agreement that expertise and services to manage the condition exist in Scotland. The main issues were lack of sign posting, referral pathways and overall co-ordination of care. NSD will produce a paper for regional directors of planning, highlighting what issues and service gaps people with EDS, and hypermobility spectrum disorder encounter.

Huntington’s disease ( HD)

In addition to the work carried out by NSD, the Scottish Government has funded work on Huntington’s disease and Motor Neurone Disease.

Explanation: What is Huntington’s disease?

The Huntington’s Disease Association describe the disease as “an illness caused by a faulty gene in the person’s DNA. It affects the body’s nervous system – the network of nerve tissues in the brain and spinal cord that co-ordinate the body’s activities. Huntington’s can cause changes with movement, learning, thinking and emotions. Once the symptoms begin, the disease gradually progresses, so living with it means having to adapt to change.” [34]

In 2015 the Scottish Government commissioned the Scottish Huntington’s Association ( SHA) [35] to lead on the development of a National Care Framework for Huntington’s disease ( HD) [36] . £180,000 was provided to SHA in order for them to produce a National Framework by early 2017 and to begin work to develop localised versions for each NHS Board area by 2019.

A National Care Framework Lead was appointed, who pulled together a multi-disciplinary development group to devise and consult upon the Framework. The group included representatives of HD families and carers, psychiatry, psychology, neurology, neuropsychology, genetics, rehabilitation, dentistry, GPs, speech and language therapy, dietetics, physiotherapy, occupational therapy, care homes, palliative care, social work, and academic and research institutions.

Further to a public consultation in Autumn 2016, the Framework was published in March 2017 and formally launched at an event in the Scottish Parliament in May that year. It can be viewed at:

The Framework seeks to ensure that the care and support provided to families living with HD takes account of their specific health & social care needs throughout their experience. It does not advocate a “single pathway” or “one-size-fits-all” approach, making clear that every person’s experience is unique and requires to be treated as such.

The Framework makes clear that individual care and support packages require to be created in partnership with families, and should have four key elements.

1. Care coordination should be provided by a single named specialist as determined by each Health & Social Care Partnership ( HSCP) who has a key role in assisting families to navigate their way through their HD journey.

2. Care should be provided by a clearly defined multi-disciplinary team consisting of core members whose roles are essential in managing health and social care needs.

3. Access is required to a wider and clearly mapped network of services where well-developed referral and liaison arrangements are in place.

4. Specialist staff play a central role in providing training and education to the wider support network. Each HSCP area should have arrangements to deliver training, or work with other HSCPs to deliver training, appropriate to its own workforce.

The Framework advocates a Person Centred Approach, a Family Systems Approach, a Biopsychosocial Model of Health & Disability, Personalisation and a Palliative Care Approach.

The Framework itself is a flexible, interactive online resource designed to evolve along with changes to health and social care systems, structures and personnel – rather than a printed document that can quickly become obsolete. It provides a wealth of information and resources under the following 16 topics:

  • Deciding whether to have the genetic test
  • Finding out if you have symptoms of HD
  • Getting help with the symptoms and associated difficulties of HD
  • Getting information and advice about HD and someone to support you
  • Support with employability when you need it
  • Getting financial help when you need it
  • Getting advice about having a family
  • Getting support for children, young people and parents
  • Support if you are a caregiver and getting a break from caring
  • Getting support with day-to-day living and reducing isolation
  • Getting support to adapt your home or live where you choose
  • Support to plan for the future
  • Moving to supported accommodation and long term care
  • Care at the end of life
  • Getting support out of hours
  • Participation in research

SHA has started the first phase of the localisation work in NHS Ayrshire & Arran, NHS Fife & NHS Grampian. An analysis of local services compared to the Framework has taken place in each of these areas and Local Action Plans have been drafted. It is anticipated that localised versions of the Framework will be in place in these areas by autumn 2017, at which point localisation work will proceed in NHS Greater Glasgow & Clyde, NHS Lanarkshire and NHS Lothian.

People living with neuro-progressive disorders, like Huntington’s disease, can face many common challenges and it is anticipated that much of the learning that will emerge from this work will be transferable to supporting people with other long term conditions.

The Framework has been well received by many stakeholders, including the Cabinet Secretary for Health and Sport:

“From the outset we were hopeful that the HD Framework could have the potential to be used as a template for other neurological and long terms conditions. Widespread feedback from stakeholders representing such conditions appears to have borne this out. We look forward to seeing how this exciting prospect develops, and are pleased to continue working with the Scottish Huntington’s Association and others to make this a reality.”

Shona Robison MSP, Cabinet Secretary for Health and Sport

The Nationally Managed Clinical Networks and pathways relate to Commitments 12, 23 and 32 of the UK Rare Disease Strategy. However, they also relate to Commitment 1 as they include patient groups as key partners in the development of the service and/or pathway.

3.2 Decision support tools for health and social care

The Scottish Government eHealth strategy 2014-2017 [37] has a commitment to provide decision support tools. It states:

Clinicians, Social Care Staff and other third sector partners will be able to:

have quick and easy access to increasing amounts of clinical guidance and decision support that is relevant to the specific patient context, including highlighting any substantial variation from expectations, and generating appropriate prompts and alerts.

In 2015, Scottish Government produced a Decision Support Roadmap to guide delivery on this commitment. This roadmap highlighted the need for a range of different types of decision support tools, including websites, mobile apps, and the most effective method - integrating prompts into the clinical and care systems that practitioners use on a day to day basis.

There are a number of decision support tools available some of which are purchased or developed for national or local use in NHS Scotland. Some mobile decision support apps and other tools are also available for practitioners to purchase independently or access freely through the Internet. A recent survey of what clinicians need from decision support tools confirmed that clinicians are overwhelmed by the vast range of tools available and that they would value a “go-to” place – a single delivery platform - for quality assured decision support tools that meet NHS Scotland standards. This survey also highlighted the value that clinicians place on decision support delivered through clinical systems and in the form of downloadable mobile apps. These apps are valued for quick access to reliable guidance, algorithms and calculators, particularly in the community and other locations with limited Internet access. Examples of decision support apps developed through the Decision Support Roadmap include the Antimicrobial Companion and the app for sepsis diagnosis and management. Work will begin in 2018 to look into suitable apps for rare diseases.

In response to the needs identified through this survey and the earlier consultation on the Decision Support Roadmap, the Scottish Government Digital Health and Care Team is developing a quality assurance framework to give assurance that the tools promoted in NHS Scotland are safe and clinically effective. Initially this quality assurance framework will focus on mobile apps for health and social care professionals. The Scottish Government is also working with the Digital Health and Care Institute to create a delivery platform for quality assured decision support tools, linked to a common knowledge base to ensure that all tools are based on best available evidence.

The Scottish Government has also procured a decision support platform that can interact dynamically with data in an individual electronic patient record, run that data through algorithms based on best practice evidence and guidance, and push prompts and recommendations specific to that patient’s needs to the clinician, in the context of the patient record. In the first instance, this platform will be evaluated working with primary care electronic health record systems, however it has the capability to interact with any clinical or care system which can transfer the relevant data to the decision support platform. This is an especially important development as the research evidence indicates that this is the form of decision support with the highest impact on healthcare practice.

In secondary care in Scotland, the limitations of the clinical systems such as Trakcare mean that this type of patient-specific decision support is usually harder to implement. A simpler alternative that has been introduced in TrakCare is a hyperlink from the Trakcare menu to a webpage that provides access to quick reference sources such as the British National Formulary, and collections of action-focused summaries of evidence provided by publishers such as BMJ.

While some of these support tools are relatively new, they offer opportunities to help people with a rare disease to get a faster diagnosis and receive fast and tailored treatment plans. In partnership with a range of stakeholders, the Scottish Government is developing a new, integrated Digital Health and Social Care Strategy that will build on achievements to date and set out future development and priorities

These decision support tools are the start of meeting Commitments 12, 14, 30 and 34 of the UK Rare Diseases Strategy.

3.3 Cross Border Guidance for Clinicians

NSD manages the process by which NHS Boards in Scotland can access national risk share funding for referrals to specialist and highly specialist healthcare which is not available in NHS Scotland. Referral is normally to a NHS Trust in England which is recognised as a provider by the NHS England specialist care commissioners. In very rare circumstances, consideration will be given to funding highly specialised care within an internationally recognised healthcare provider overseas.

This ensures that patients in Scotland can access specialist treatment that may not be available in NHS Scotland. This is of particular importance to patients with very rare diseases, where there may be a limited number of expert clinicians in the UK able to offer diagnosis and advice.

NSD have updated the Cross Border Guidance for Clinicians in order to improve knowledge of services available. It has also published NHS England’s Highly Specialised Services report in Scotland which gives detail on many of the newer services available. The report can be viewed on the NSD website at:

3.4 Scottish Clinical Genetics Forum

The Scottish Clinical Genetics Forum is the national group for Clinical Genetics in Scotland. It was created following the Calman Review of Clinical Genetics services. The purpose of the forum is to develop and share good practice, and develop policies from EU or UK guidelines (for example, EU guidelines for inherited cardiac conditions or NICE guidelines for managing the risk of breast cancer) to ensure that there is equal access of care for all.

The work of the Forum contributes to Commitment 15 of the UK Strategy for Rare Disease.

3.5 The Montgomery Review

On 14 December 2016, the Cabinet Secretary for Health and Sport announced that the Scottish Government will take forward the recommendations of Dr Brian Montgomery’s independent Review of Access to New Medicines [38] . These reforms will help more patients get better access to the treatments they need.

Since the publication of the report, the Scottish Government has been working closely with relevant partners, stakeholders, patient representatives, the third sector and the pharmaceutical industry to consider the most appropriate and effective way to take forward the recommendations. A large amount of progress has been made.

Patient and Clinician Engagement in Decision Making

The SMC are working on developing public friendly summaries of their decisions that will give a brief explanation of the condition, medicine, decision and rationale. Additionally, the role of the public partner has been reviewed and clarified. Since August 2017, they are no longer required to present the patient group submissions. Patient group representatives have also been attending SMC meetings from July 2017. Further work will be done to consider clinician engagement in the SMC decision making process, as there is a need to strike a balance between the time required to attend an SMC meeting versus the time they spend in the clinical environment.

Transparency of SMC decisions

The role of the secret ballot has been reviewed. It was felt that this process was necessary and should continue in order to protect the confidentiality of both individuals and SMC decisions until they are officially released.

SMC will also make decisions ‘not to accept’ medicines clearer on their website.

The Association of the British Pharmaceutical Industry ( ABPI) Scotland has led on minimising the inclusion of commercial in confidence information in SMC submissions. The preference of the ABPI is to encourage optimal public disclosure whilst appreciating an individual company’s need to redact genuine in confidence information. They have therefore modified existing NICE guidance regarding the management of confidential data to match SMC’s requirements. The intention is to have this completed in early 2018.

End of life, orphan and ultra-orphan medicine

The SMC has reviewed the definitions of end of life, orphan and ultra-orphan medicines. A new pathway is being developed, and an announcement will be made in early spring 2018 on any revisions to the definitions and the ultra-orphan pathway.

Managed Access Schemes and Conditional Acceptance Options

Work is underway to enable the SMC to have an additional decision option of “recommend for use, subject to on-going evaluation and future assessment”. This will allow the SMC to accept a medicine for a time period to allow the collection of real world data on its effectiveness. It has been agreed this would be difficult to apply to all medicines currently due to limited IT capabilities, including the associated administrative/clinical burden of collecting outcome data. It should therefore be tested in the first instance to those medicines that are applicable only for a conditional acceptance. Initially, this will encompass medicines who have received a conditional marketing authorisation ( CMA) by the Europeans Medicines Agency ( EMA).

Additionally, NHS National Procurement are working closely with the SMC to progress plans on conditional acceptance options as well as how Managed Access Schemes can be adopted early in NHS Scotland. In the first instance Managed Access Schemes will only apply to medicines that have received a conditional acceptance as defined above.

Learning from other Health Technology Assessment process

The Scottish Government has commissioned a comparative review of the health technology assessment ( HTA) processes across the world, including end of life, orphan and ultra-orphan medicines. Once completed, the output from this work will assist in delivering recommendations 27 and 28 of the review, which are associated with new developments such as the development of a Scottish Model of Value.

Remaining Recommendations

There are a number of recommendations such as the implementation of the Single National Formulary; the standardisation of data collection for non-formulary requests (recommendations 15 & 19); the future arrangements for the New Medicines Fund (r16); making better use of negotiations, including a pause in the HTA process (r22 & 24); and the development of a new Scottish Model of Value (r27 & 28) all of which are either reliant on the alignment of a number of other recommendations or linked to other policy timelines. Work is in hand to take all of these forward and the Cabinet Secretary for Health and Sport will provide an update to the Health and Sport Committee in spring 2018.

Peer Approved Clinical System ( PACS)

Alongside the publication of the Montgomery Review in December 2016, the Cabinet Secretary for Health and Sport also announced changes to the Individual Patient Treatment Request ( IPTR) process for patient access to medicines not recommended for routine use in NHSScotlandon an individual basis.

These new changes will introduce a new National Appeal Panel, refreshed guidance and standardised national paperwork.

IPTRs will be replaced with PACS Tier Two which is due to be implemented nationwide from 1 February 2018. In October 2015, Tier One PACS for ultra-orphan medicines was piloted in Glasgow. This pilot was rolled out to all other Health Boards across 2016, this will be evaluated to ensure it is achieving its intended aims, in line with recommendation 20 of the review. This will align with the implementation of the new ultra-orphan pathway.

The work being undertaken in this area may benefit people with rare diseases greatly in terms of the medication that is available to them. It also goes towards meeting Commitment 13 of the UK Rare Disease Strategy.

3.6 Data Short Life Working Group

In July 2016, a Short Life Working Group ( SLWG) was established by the Rare Disease Implementation Oversight Group to consider how information on rare diseases can be captured in Scotland to enable monitoring and reporting.

The SLWG produced a report in June 2017 that included a recommendation to establish a congenital anomalies register in Scotland. Scotland does not currently have a register.

Congenital anomalies comprise a wide range of abnormalities of body structure or function that are present at birth and are of prenatal origin. Congenital anomalies account for approximately 80% of all rare diseases and affect approximately 2-4% of pregnancies in Scotland.

A congenital anomalies register would:

  • provide a resource for clinicians to support high quality clinical practice;
  • provide epidemiology and monitoring of the frequency, nature, cause and outcomes of congenital anomalies;
  • support research into congenital anomalies and precision medicine including basic science, cause, prevention, diagnostics, treatment and management;
  • inform the planning and commissioning of public health and health and social care provision; and
  • provide a resource to monitor, evaluate and audit health and social care services, including the efficacy and outcomes of screening programmes.

This proposed method is similar to that used by Public Health England’s National Congenital Anomaly and Rare Disease Registration Service ( NCARDRS) [39] . NHS Information Services Division will liaise with NCARDRS to gain further understanding of how this works in NHS England.

A copy of the summary report from the SLWG can be found at Annex 2.

The work going forward from the SLWG will help to meet Commitments 7, 16 to 22 and 31 of the UK Strategy for Rare Diseases.

3.7 RARE Best Practice

Managing knowledge to improve care of people with rare diseases

HIS was a partner in the EU funded RARE-BestPractices [40] research project with responsibility for developing two information databases – a database of research gaps RAREGAP and a database of appraised clinical guidelines covering 44 disease areas RAREGUIDELINE This work highlighted the need to improve awareness of access to, and use of existing guidance on the diagnosis and management of rare diseases across those caring for people with rare conditions.

In order to maximise the awareness and application of knowledge and information available to support practice and education regarding rare diseases within Scotland, HIS together with NHS Education for Scotland ( NES) are scoping the potential development of a Managed Knowledge Network for Rare Diseases.

A survey will be distributed to a number of clinical communities in Scotland, including general practitioners and paediatric specialists, to assess where clinicians look for and source information on rare disease management to support their practice. Intelligence collected via this survey, together with a review of current sources of rare disease information, will be collated into a report.

Provision of information alone is not sufficient to ensure use or practice change, and work previously undertaken by HIS and NES on approaches to getting knowledge into action will be used to develop a series of recommendations on what might work best in terms of rare disease information provision for clinicians in Scotland.

The work carried out on the RARE-BestPractice project goes towards meeting Commitments 14 and 22 of the UK Strategy for Rare Diseases.