Inequality of access to genomic diagnostics and other key technologies that tackle diagnosis odyssey and improve patients’ survivability and quality of life need to be addressed. All involved stakeholders should strengthen their collaboration and engagement in order to improve health outcomes and level the policy landscape.

Our call for action aims at raising awareness on the challenges faced by genomic diagnostics and supports the creation of a European Action Plan for Rare Diseases proposed by EURORDIS and the rare disease community. According to the latest data, 25% of patients waited from five to 30 years for a diagnosis, and during that time 40% received an incorrect diagnosis.

Taking into account that around 80% of rare diseases have a genetic origin, we believe genomic testing should be an essential part of the care pathways for rare disease patients. Therefore, we call for any legislation on rare diseases to acknowledge the role of genomics in enabling accurate and timely rare disease diagnosis.

The event, hosted by MEP Tomislav Sokol, will focus on the role of genomics in enabling equal and timely rare disease diagnosis and consequently timely access to the right treatment. The discussion will touch on best practices in some member states and then compare with experiences of patients from the rest of the European Union in order to highlight the gaps and work ahead.