It's Not Rare to Have a Rare Disease

6. DIAGNOSIS AND EARLY INTERVENTION

UK Strategy Commitments

11. 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.

12. 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
• embedding appropriate information in national data systems including measuring equity of access to molecular tests to maintain UKGTN diagnostic studies.

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

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

15. 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 clinics
• ensuring awareness of methods and clinical techniques used in differential diagnosis.

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

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

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

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

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

21. Agree international standards, building on existing UK standards.

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

Where We Are Now

Delays in diagnosis mean that opportunities for timely interventions can be missed. In addition, relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis. Diagnosis may also require specific expertise to interpret laboratory tests.

Healthcare Improvement Scotland is leading the work package on the development of a collection of good quality clinical guidelines and associated research recommendations for RARE-Bestpractices^[30], which was initiated in January 2013 with funding from the EU Seventh Framework Programme. This project is designed to support access to diagnosis and provision of high quality healthcare for patients with rare diseases in line with the EU Directive 2011/24/EU on the application of patients' rights in cross border healthcare. The project is co-ordinated by the Italian National Centre for Rare Diseases.

RARE-Bestpractices will deliver a publically accessible database of good quality guidelines to provide up to date information on disease diagnosis and management for professionals, patients and carers. The project will also deliver: a methodology for the development of clinical guidelines in rare disease topics; a new Journal, 'Rare Diseases and Orphan Drugs'; training activities in the development, appraisal and implementation of guidelines; and assessment of approaches to appraisal of orphan medicines. The expertise within Healthcare Improvement Scotland (including the Scottish Intercollegiate Guidelines Network) in searching for and assessing the quality of guidelines has been pivotal to its involvement in RARE-Bestpractices.

Scotland has well developed diagnostic services, with collaborative working ensuring that there is equitable access to tests across the 14 territorial NHS Board areas. This work is supported by the four Scottish National Managed Diagnostic Networks which focus on delivering service, quality and efficiency improvements in diagnostics, in imaging, pathology, biochemistry and microbiology/virology.

Collaboration through the Scottish Molecular and Cytogenetics Laboratory Consortium brings together the regional genetics centres in Aberdeen, Dundee, Edinburgh and Glasgow to agree how best to provide genetic testing provision for rare diseases and to reduce unnecessary duplication.

NHS Scotland is an active participant in the UK Genetic Testing Network and the 4 genetic testing laboratories work as an integrated service with the 20 laboratories in England.

Work is underway among genetics specialists to establish a series of workshops to support the mainstreaming of genetic testing across relevant medical specialties to improve diagnosis and patient care.

Application of Genetic Testing

The Molecular Genetics Laboratory at the Southern General Hospital in Glasgow is the lead unit in Scotland for infantile epilepsy. Since 2005 it has tested for mutations in the SCN1A gene which causes infantile epilepsy. In this time the laboratory has maintained close links with the Yorkhill Hospital Paediatric Neurology Department and has as a result expanded the cohort of genes tested to 12. These genes account for some of the commonly associated infantile onset epilepsy syndromes. Almost 500 children a year are tested for genetic abnormalities.

Confirmation of a genetic epilepsy syndrome can have a positive influence on treatment options and clinical outcome for these children, as early diagnosis and subsequent targeted treatment can prevent co-morbidities by reducing seizure frequency.

Without genetic testing it can take several years to get a correct diagnosis. By this time developmental delay (due to prolonged and recurrent seizures) is severe and irreversible.

The laboratory receives specimens from the 4 Scottish Molecular Genetic Consortium centres as well as referrals from the rest of the UK and many international destinations. The testing service for infantile onset epilepsy syndromes has established the Molecular Genetics Laboratory as a centre of excellence for these conditions.

Scotland is represented on the Genetics Specialty Group^[31], one of 23 national UK networks of topic-specific expertise, supported by the National Institute for Health Research. The Genetics Specialty Group links as appropriate to other specialty groups and to the NIHR Clinical Research Networks. The group seeks to drive a national approach to research into genetic-related issues covering:

• rare diseases;
• causes and prevention of birth defects; and,
• common disorders such as familial cancer and genetic approaches to their treatment and prevention.

Each National Managed Clinical Network also has a dedicated web site and links to the NHS Education Scotland (NES) Managed Knowledge Network where information about relevant conditions and clinical pathways and protocols is published. This may include assessment tools and decision making pathways as well as details of where specialist knowledge may be available locally, for example in paediatric allergy.

Suggested Next Steps Emerging from Discussion/Engagement with Stakeholders

Diagnostic Pathways

We will improve diagnostic pathways for people with rare diseases through:

• Review by NHS Boards, NSD and Managed Diagnostic Networks of the input of diagnostic specialties to rare disease diagnosis and consideration of how delays may be reduced
• NSD action to increase awareness among clinicians in Scotland of criteria for patient referral to diagnostic pathways for Scottish or English specialist centres
• Obtaining the input of primary care to the development of appropriate pathways for diagnosis, treatment and support
• Exploration, through NHS Board e-Health leads and NSS Public Health and Intelligence of the feasibility of developing links between NHS Board patient information portals to support patients at diagnosis and to assist in providing co-ordinated and informed care
• Consideration of the adaptation of RefHelp (Lothian Referral Guidelines) to include rare disease pathways to assist GPs in the recognition, management and referral of patients with rare diseases
• Exploration by NSS Public Health and Intelligence of how rare disease decision support systems and other rare disease software systems may feature in future development of IT systems in NHS Scotland, ensuring these are interoperable with GP clinical systems.

Training in Diagnostics

We will increase awareness of rare diseases among all relevant staff groups through:

• Exploration of options for inclusion of input from patients with rare diseases into the post-graduate training programmes for doctors, nurses and allied health professionals
• Consideration of the inclusion within post-graduate training of appropriate content on diagnostic skills relevant to rare diseases
• Supporting the development of higher specialist training in genetics for medical and scientific staff to develop sustainability in the genetic workforce
• Publicising Orphanet as appropriate to NHS Boards, staff groups, training organisations, universities and others across NHS Scotland
• Developing awareness raising of rare diseases among midwifery, health visiting and GP professions.

Databases

We will take review existing data collection approaches for rare diseases through:

• Engagement with NSS Public Health and Intelligence to carry out a stocktake of rare disease databases to scope what existing patient data systems exist, where these are held and how they might be improved
• Mapping of existing nationally held data-sets to assess which have sufficiently detailed clinical coding to identify patients with rare diseases
• Exploration of opportunities to develop links between UK databases, Scotland specific databases and relevant international databases
• Consideration of the input Scotland should have into Orphanet, either independently or as part of UK joint work and the feasibility of using Orphanet over and above existing data recording systems, without creating different systems and standards
• Consideration by NSS Public Health and Intelligence of the best means by which to tackle the limitations affecting data capture arising from the use of existing coding systems such as ICD-10 and link to the roll-out of ICD-11.