If genetic technologies are properly applied, patients with poorly differentiated sets of clinical symptoms or rare combinations that could not easily be recognised by the non-specialist can receive a more rapid diagnosis and, thereafter, treatment and management by experts in that rare disease.

In November 2013, a UK-wide strategy to provide those living with rare conditions with the highest possible quality of evidence-based care and treatment was published. The four countries of the UK have until 2020 to implement the 51 commitments outlined in the strategy. The departments of health in Scotland, Wales and Northern Ireland have all published country specific plans that reflect their respective health service structures and priorities. The Department of Health in England has not developed or coordinated a plan. 

At the end of 2016, the APPG on Rare, Genetic and Undiagnosed Conditionlaunched an inquiry into why this is the case and how it affects patients in England.

To support the APPG’s investigation they invited comments from those affected by rare diseases and other stakeholders in the rare disease community. 

Read the response from PHG Foundation here