Publication - Progress report

Rare Disease Scotland: progress report

Published: 28 Feb 2018

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

83 page PDF

1.6 MB

83 page PDF

1.6 MB

Rare Disease Scotland: progress report
4. Co-Ordination Of Care (23 – 30)

83 page PDF

1.6 MB

4. Co-Ordination Of Care (23 – 30)




Continue to develop service specifications for rare diseases. This will include country specific care pathways and a ‘generic’ care pathway that sets out best practice that can be applied to all patients with rare diseases in the UK (particularly where there are no disease specific pathways). The generic care pathway will include:

  • an appropriate care plan for all patients with rare disease;
  • clearly stated principles around the standards of care which patients with a rare disease can expect, including patients with no diagnosis;
  • the development of seamless pathways for transition, from childhood to adolescence, and onto adulthood and older age; and
  • access to criteria and measures of quality and outcomes.


Agree that specialist clinical centres should, as a minimum standard:

  • have a sufficient caseload to build recognised expertise;
  • where possible, not depend on a single clinician;
  • co-ordinate care;
  • arrange for co-ordinated transition from children’s to adults’ services;
  • involve people with rare conditions, and their families and carers;
  • support research activity; and
  • ensure their expertise is available to families and their healthcare teams.


Ensure that the relationship between the specialist clinical centres and science and research is explained to and understood and put into practice by: practitioners delivering local health and social care; the research community; industry; academia.


Set out clearly the connections to, and communications with Specialist Clinical Centres in molecular diagnostics and other forms of diagnostic support.


Ensure that specialist clinical centres are as concerned with research as with health and social care support, and that they develop networks that provide professional-to-professional dialogue and collaboration across a wide range of experts, including internationally (especially for those conditions that are ultra-rare).


Work with international partners wherever possible and develop UK-wide criteria for centres to become part of an expert reference network to increase flow of information between patients and professionals in a range of disciplines.


Improve systems to record genetic and other relevant information accurately to detail the incidence and prevalence of disease and to support service planning and international planning.


Identify how they can change systems to hold information about rare diseases, including information about the uptake of treatments.

4.1 European Reference Networks

Some rare diseases can affect just one or two people in the whole of a country, which can make it difficult for clinicians and people to get information, support and treatment.

The European Commission is required to support Member States in the development of European Reference Networks [41] , or ERNs.

The Second Report from the UK Rare Disease Policy Board contains the following section on ERNs:

  • The total number of patients who collectively suffer from diseases classified as rare is significant. However, in any given country the number of patients who suffer from a specific rare disease may be small. The scarcity of rare disease expertise and patients in any single country means that diagnosis, treatment and management of rare diseases strongly benefit from cross-border collaboration.
  • ERNs are centres of knowledge, skills and expertise in the field of rare diseases and complex conditions. They function as virtual networks that provide a platform to create partnerships between healthcare providers. They enable the principles of better access for patients to highly specialised services and support European co-operation on highly specialised healthcare, knowledge sharing and improved diagnosis and care in medical domains where expertise is limited.
  • ERNs can also be focal points for medical training and research. The diagnosis, treatment and management of rare diseases require the highest level of partnership working to remove unnecessary barriers and facilitate access to high quality care and treatment.
  • There are currently 24 ERNs across the EEA (European Economic Area), with 26 Member States ( MS) participating, creating a large network of over 300 highly specialised healthcare providers ( HCPs).

The UK is heavily involved by:

  • participating in 23 of 24 networks involving 113 separate UK groups in this initiative of pan-European action on rare diseases; and
  • leading six networks (more than any other Member State).

Scotland is contributing as a partner organisation to the following ERNs




Rare Bone Diseases


Greater Glasgow & Clyde

Rare Craniofacial anomalies & ENT Disorders



Rare Endocrine Conditions


Greater Glasgow & Clyde

Rare and Complex Epilepsies


Greater Glasgow & Clyde

Rare Respiratory Diseases


Ninewells Hospital & Medical School, Dundee.

Royal Infirmary of Edinburgh

Rare & Undiagnosed Skin Disorders



A full list of the ERNs can be found at Annex 3.

The work of the ERNs goes towards meeting Commitment 28 of the UK Strategy.

4.2 Specialist Care in the UK

Through National Service’s Division ( NSD) and the National Specialist Services Committee, NHS Scotland receives and considers application for new specialist services and networks. NSD currently scans for:

  • the impact of new medical technologies for existing specialist services;
  • the need to develop pathways for access to new specialist services in England; and
  • the need to commission new specialist services or Nationally Managed Clinical Networks in Scotland.

Of particular relevance to the Rare Disease agenda is the proposed development of Inherited Metabolic Disease Service in Scotland. The term Inherited Metabolic Diseases ( IMD) covers a group of over 650 individual conditions, each caused by a defective single enzyme or transport protein. Individually each condition is rare; collectively IMDs are a significant cause of morbidity and mortality. Early identification and introduction of specialist diet or drug treatments is crucial as patients otherwise face severe health complications. Without treatment many IMDs can lead to severe learning or physical disability and death at an early age.

Around 1000 people in Scotland attend services for IMD. Due to the rarity of individual metabolic conditions and their complex nature, treating IMDs requires an integrated specialised clinical and laboratory service to provide satisfactory diagnosis and management.

Over 2016, a review of the IMD services in Scotland highlighted the need to assess the sustainability of the current provision of services in Scotland on account of:

  • The greater number of IMD patients surviving into adulthood. The majority of the over 1000 people with IMDs known to the service in Scotland are 16 years of age or over.
  • The impact of orphan drugs and the potentially significant increases in patients who meet clinical criteria for use of these drugs.
  • The implementation of the UK Strategy for Rare Diseases.

The Expert Review Group recommended the national designation of an integrated IMD Service for Scotland. An outline application for a nationally commissioned IMD service was endorsed by the NSSC in June 2017. A full application is expected to be considered the first half of 2018. This work helps towards meeting Commitment 23 of the UK Strategy for Rare Diseases.

4.3 Specialist Centres

In Scotland, all organisations involved in the care of patients with rare diseases should work in an integrated way. NSD works with NHS boards and other highly specialised service commissioners across the UK to ensure that patients have access to appropriate treatment across the UK. All specialist centres have a detailed specification which outline the expected service to be delivered and are reviewed regularly by NSD in Scotland and by counterparts for services accessed in NHS England. Any new specialist services would be expected to adopt the same principles. In addition, all national specialist service in Scotland is involved in research – there is a section in each Annual Report.

As a result, Scotland considers that Commitments 24 and 27 of the UK Strategy for Rare Diseases have been met and are now complete.

4.4 National Demand Optimisation Group

The National Demand Optimisation Group ( NDOG) [42] was set up by the Scottish Government in 2016. The remit of the group was to review existing practices and information on the use of diagnostic tests across the NHS in Scotland. It was recognised that there was considerable variation in the use of tests, some which could be attributed to differing clinical circumstances or demographic differences.

It is a multi-disciplinary group that contains representatives from Laboratory services, Radiology, National Services Scotland and Nationally Managed Diagnostic Networks.

The group reviewed existing practices and information, and explored links with local and national initiatives. The main focus of the group was Demand Optimisation. Demand Optimisation is the process by which diagnostic test use is optimised to maximise appropriate testing, which in turn optimises clinical care and drives more efficient use of scarce resource.

The recommendations included:

  • NHS Boards should adopt the General Demand Optimisation Guidance and IT Guidance produced by the group.
  • Action on a number of work streams to be taken forward in collaboration with local Health Board leads, for example:
    • Data collection and reporting to allow national collation and analysis.
    • A focussed and collaborative workstream aimed at facilitating the introduction of new tests within definitive clinical pathways.
    • The Scottish Clinical Imagining Network should establish a subgroup to consider the recommendations made, in regard to imaging.
  • NHS Boards and Diagnostic Networks should continue to provide support to healthcare science leads, managers and diagnostic staff to work with the national healthcare science leads and diagnostic networks to collectively progress Demand Optimisation work.
  • NHS Boards should mandate that diagnostic service providers, and users should develop a focus on demand optimisation, engage in data collection in order to identify variation in user practice, monitor the effect on local improvement in clinical outcomes; and feedback good practice examples.
  • The National Diagnostics Managed Network should provide national oversight and consistent quality.

The group will continue their work to allow co-ordination and support for Demand Optimisation work streams and strategy implementation. The Scottish Government have commissioned NSD to take forward further work in relation to An atlas of Variation in the use of Diagnostic tests and supporting local change through the National Diagnostic Networks. The work of the NDOG contributes to achieving Commitment 26 of the UK Strategy for Rare Diseases.

4.5 Genetics Laboratory Consortium

In 2016 National Services Division ( NSD) undertook a review of the Nationally Designated Genetics Laboratory Testing Services. The review highlighted that the genetics laboratory consortium ( GLC) should work towards the introduction of whole exome sequencing in Scotland within the next five years as well as development of multi gene panels in the shorter term. It was also recommended that the service should plan for the introduction of non-invasive prenatal testing ( NIPT), non-invasive prenatal diagnostics ( NIPD) and circulating tumour DNA ( ctDNA) testing in line with professional guidelines and Government policy. As the laboratories develop new testing techniques it is anticipated that this will instigate a reduction in the demand for traditional testing. Therefore the consortium will continue to offer a range of approaches to genetic testing to meet testing requirements for patient care in Scotland.

The review also recommended that the evaluation of the clinical usefulness and cost effectiveness of molecular pathology tests should continue to be undertaken by the Scottish Molecular Pathology Evaluation Panel ( MPEP) – involving oncology, haematology, pathology and related disciplines. MPEP recommendations would be made to the Scottish Molecular Pathology Consortium Steering Group for consideration of whether tests should be commissioned routinely by NHS Scotland.

The reworked Genetics Consortium structure will be adapted to mirror these processes and ensure the same rigour is applied to developments in testing practice throughout the consortia. Work is currently underway to rework the Genetics Evaluation Panel ( GEP) (formerly the Genetics Laboratory User Group) into a similar panel as MPEP with the skills and knowledge to evaluate genomic/cytogenetic tests and advise the Genetics Laboratory Consortium Steering Group on the clinical utility of tests.

The consortia have been successful in enabling equity of access for all patients in the complex NHSScotlandinfrastructure to genetics testing. A communications strategy will be developed by National Genetics Laboratory Management Committee; this will include utilisation and expansion of the website currently used for the MPC/ MPEP to provide a platform suitable for the combined service/consortia. This will be to provide links to regional services to improve accessibility of testing provision.

In addition, both the Genetics Evaluation Panel ( GEP) and the MPEP provide a forum for all clinical users to provide evidence on clinical needs and priorities in relation to genetic testing. MPEP will review evidence on the clinical utility and validity of proposed new genetic tests. GEP will assess proposals tests based on clinical need and recommend which tests should be developed to UKGTN standard.

This helps towards completing Commitments 26, 42, 43, 44 and 45 of the UK Strategy for Rare Diseases.

4.6 Laboratory Information Management System ( LIMS)

The Tayside genetics laboratory began a procurement exercise in 2015 to develop a fully integrated LIMS system for all aspects of their genetics and molecular pathology service. This went live in June 2017 and is the first fully integrated LIMS system for all three elements of the service in Scotland. Work is underway to activate the LIMS in Raigmore laboratory and colleagues at Tayside have agreed to work with the NHS Grampian laboratory to develop LIMS solution for their needs.

The VarSeq ( VS) Warehouse Project: The Scottish Genetics Consortium laboratories will pilot specialist software to facilitate the efficient interpretation of NGS data and allow them to share this data securely. The data analysis for NGS is a considerable challenge for two reasons: firstly, the amount of data that is generated by NGS is vast and therefore creates an analysis bottle-neck which is highly labour-intensive; and secondly, the clinical utility of the generated data can only be maximised where all related information is shared amongst the laboratories to aid interpretation. The initiative has the potential to future-proof the laboratories and makes larger NGS analysis such as whole exome sequence ( WES) and whole genome sequence ( WGS) potentially deliverable.