World Retina Day 2023
September 30th
Call to Action for the implementation of Genetic Diagnosis as a Standard of Care for people living with Inherited Retinal Diseases (IRDs).
On World Retina Day, Saturday September 30th, 2023 Retina International and its global membership of people living with Inherited Retinal Degeneration (IRDs) and health care providers are calling for the implementation of Genetic Diagnosis as a standard of care for all those affected by these complex conditions.
There are over 300 different genes responsible for IRDs, causing different forms of the condition, many of these are classed as ultra-rare with a high unmet medical need (HUMN). The heterogeneity of these conditions make the needs of the IRD community very specific.
IRDs are actionable conditions and while treatments are emerging, in their absence, steps can be taken by those affected to make informed decisions about their lives. Therefore, receiving a genetic diagnosis is a crucial element to enabling action.
Importance of Genetic Diagnosis:
- Genetic testing and counselling can lead to greater understanding by the person living with an IRD and their families of the inheritance patterns.
- A genetic diagnosis is a prerequisite for people living with IRDs to be considered for inclusion in research programs and clinical trials.
Currently, receiving a genetic diagnosis and counselling is a long and difficult process as:
- Many patients are not being referred for genetic services by healthcare professionals (HCPs)
- Many patients do not have equitable access to best practice genetic testing services for IRDs.
Retina International (RI) is addressing these challenges through engagement with its global membership and related stakeholders. Members representing 16 countries have designed a set of universal indicators that allow for consistent and aligned development of advocacy strategies and implementation at a national, regional and global level:
The proposed indicators can be used as an assessment tool, to aid and support local advocacy efforts. Mr. Franz Badura, chair of the RI board said: “Created by patients, these indicators are essential to empowering the retina community at large, allowing all stakeholders to act at a global and a national level to ensure IRD-specific needs are considered by all decision makers.”
“These Retina International indicators provide an essential tool for effective networking of our IRD community with experts beyond the IRD space, centers of expertise, and patient organizations with similar needs, to foster further data generation and usage, research and clinical trials development, evidence generation for advanced therapies addressing unmet needs, and strengthening the delivery of care.” Said RI Policy Manager, Dr. Petia Stratieva. She continued: “RI is calling on all actors in the Eye Health Community to join efforts with us to drive education and awareness in genomic services for IRDs”
For further information on this, contact Membership and Engagement Coordinator at RI, Laura López Caraballo at laura.caraballo@retina-international.org.