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Table 3 Recommendations for developing a national IRD programme

From: Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

 Identify national centres of ophthalmic expertise that are staffed and resourced to see patients with IRDs
Engage and partner with support agencies and patient organisations
Concentrate clinical genetics and support services at these sites
Encourage referrals of all diagnosed or suspected IRD cases to these centres. Follow up can be at regional centres with appropriate clinical testing capability
Have a robust pathway for funded genetic testing and resolution of contentious variants (via MDT and partnerships with other international laboratories)
Routinely use and regularly update variant classification (e.g., in silico and functional analysis for novel variants) and collaborative databases (e.g., ClinVar, RetNet)
Become members of international alliances (e.g., ERN-EYE) to share and gain knowledge and expertise of rare eye disease
Establish therapeutic pathways nationally and internationally
Create bespoke care plans for each patient/pedigree
Audit outcomes for patients