It said patients with rare conditions were waiting too long for a diagnosis.
NHS England’s UK Strategy for Rare Diseases report, released on Wednesday, committed to providing better information and links between care services to improve the identification of rare diseases.
It will support the creation of a computerised prompt service to help GPs diagnose a previously unconsidered rare disease.
The report said: ‘Expert systems show great promise as a tool to help early recognition of rare disease. This technology is however not yet fully developed. NHS England will support piloting and evaluation where appropriate.’
Diagnosis of rare diseases can often be difficult due to factors including atypical presentations and co-morbidity. The rarity of individual rare diseases means many GPs will not encounter any cases throughout their career.
The report said it was ‘unrealistic’ to expect GPs to recognise all rare diseases, but this meant timely and accurate referral was a ‘crucial skill’.
Improved access to high quality information will be provided to allow GPs to better recognise symptoms and appropriate treatment pathways, it said.
Better training needed
Although healthcare professionals ‘do not need detailed knowledge of every rare condition’, improved training at undergraduate and postgraduate levels, as well as in professional development at work, will be implemented, to allow for rapid referrals to relevant specialists.
According to a 2004 survey of eight rare diseases, a quarter of patients had to wait between five and 30 years from experiencing their first symptoms to eventual diagnosis.
The report said: ‘It is essential to coordinate care across the "boundaries" between different services, including primary care, local hospitals, regional centres and specialist clinical centres, so that care is effective, accessible and convenient to patients.’
In the past, insufficient liaisons between services may have affected diagnosis waiting times, it added. ‘There should be common protocols for identifying patients at risk of rare diseases, or who have no diagnosis. Patients should receive a focused, coordinated diagnostic service so that they can get a quick diagnosis rather than having to start again every time there is an inconclusive test result.’
In addition to specific care pathways, the NHS should develop a ‘generic’ care pathway that sets out best practice that can be applied to all patients with rare diseases.
James Palmer, NHS England’s clinical director of specialised services, said the plan was ‘primarily focused on improving outcomes for patients, but will also make the most of developing technologies and treatments in these service areas’.