We’re mapping end-to-end care pathways and improving cross-specialty care co-ordination of specified rare diseases, to develop a novel primary-care based service led by GPs with additional expertise in Genomic Medicine.

What is a rare disease?

A disease is rare when it affects fewer than 1 in 2000 people¹.  There are currently over 6000 known rare diseases, impacting an estimated 300 million people globally¹ (3.5 million in the UK2).

Rare disease patients share many challenges. Often, they experience a long path to diagnosis, the diagnostic odyssey, and have diseases that affect multiple organ systems requiring input from multiple clinical specialties. Patients frequently report poor care coordination, especially after transition from paediatric to adult services, with their care spread across primary and secondary care, and involving multiple hospital appointments both locally and at distant specialist centres3.


What will we do?

This project, led by two GPs with a specialist interest in clinical genomics from the NHS North East and Yorkshire Genomic Medicine Service Alliance (NEY GMSA), involves mapping the clinical pathway from diagnosis, of select exemplar rare diseases of genetic aetiology.

The diseases to be mapped will be agreed by consensus across the three genetic centres in the NEY GMSA. Touch points with health services will be identified, using clinical disease expertise, patient groups and patient insights. The mapped clinical pathway will be used to identify gaps in resources, to support clinicians involved at these touch points.



How will this project make a difference?

Mapping the clinical pathway for these exemplar conditions will enable the identification and development of resources targeted at common patient ‘touch points’ with health services. This will enable the correct things to be done at each touch point, avoiding duplication, supporting the efficient use of existing resources, and enabling better patient care across multiple clinical contacts.

The next steps may involve linking care pathways to disease specific templates embedded in the electronic health record, similar to those used in other chronic diseases, and the development of specific educational resources. The model of pathway mapping and resource development could then be expanded to other rare genetic diseases and rolled out nationally across the GMSA network.

The project will also identify the stages in the pathway at which primary care practitioners with additional expertise and knowledge in Genomic Medicine could provide care and care co-ordination, and the competencies required at each stage.

How can I learn more?

Contact us to learn more.

[email protected] 

Our Project team are:

Dr. Jude Hayward, GP, Primary Care Lead for the NEY GMSA, RCGP Joint Clinical Champion in Genomic Medicine Primary Care

Dr. Will Evans, GP with a specialist Interest in Genomics. Clinical Assistant Professor, University of Nottingham

Dr. Jackie Cook, NEY GMSA Clinical Director