Advice for health professionals
Given these statistics, GPs, nurses and other primary care practitioners are very likely to encounter someone with a rare disease in their practice.
So, how can you respond to best support that person’s diagnosis? Click the image to view a short film, presented by GP Dr Sarah Jarvis, which offers practical advice and information.
*Please note, this film was published in 2015 and this web page is due for review in 2021.*
Support for patients
Developed with patients and their families in mind, this short film tells the story of Lewis and his family, and offers practical advice for those in a similar situation. If you have a patient with a suspected rare disease, you could share this film with them. Click on the image to view.
*Please note, this film was published in 2015 and this web page is due for review in 2021.*
Further information and resources
The UK strategy for rare diseases
The UK strategy for rare diseases, first launched by the Department of Health in 2013, sets out a shared vision for improving the lives of all those with rare diseases in the UK by 2020. It makes 51 commitments across a range of different areas of practice.
Each country in the UK will take action and develop plans to implement the strategy that best meets their own health and care systems, but will work together where it makes sense to do so. If you’re interested to learn more, view the rare disease strategy and implementation documents.
Genomics and rare disease
To bring the potential benefits of genomics to NHS patients with rare disease, or cancer, the Department of Health set up Genomics England in 2013 to deliver the 100,000 Genomes Project, and results from this project continue to be fed back to patients. To find out more about the project, visit the Genomics England website.
In 2018, building on the legacy of the 100,000 Genomes Project, NHS England launched the Genomic Medicine Service, which is bringing genomic healthcare to mainstream patient care on a national scale for the first time.
Charities and research
