Fig. 2

Schematic diagram of the Target 5000 IRD algorithm. The above figure illustrates the pathway employed by Target 5000 to phenotype and genotype patients with IRDs in Ireland. Following (A) referral and (B) clinical assessment, patients are (C) genotyped via an NGS panel-based approach of all known IRD-implicated genes at a research level. If the NGS panel test is negative they go onto (D) the discovery arm of Target 5000 including whole gene/exome/genome sequencing as appropriate. Novel variants are assessed with tools including cascade screening, in silico analysis and functional studies. If a candidate variant is identified, a biobanked sample is (E) sent to a clinically accredited laboratory for confirmatory testing. The phenotype is reconciled with the confirmed genotype via (F) clinical/genetic MDT discussion. If required, clinical and/or genetic reassessment or referral for systemic investigation/management is initiated at this stage. The clinical genetics team arrange a (G) genetic counselling session with the patient where the most appropriate interventions for each individual are discussed. Individuals meeting the prerequisites for this stage are eligible for entry on (H) the “Greenlight Database” signifying adequate phenotypic/genotypic characterization for (L) existing and novel (i.e., clinical trials) therapies. Underpinning the entire effort is the input of the ECLO who co-ordinates (J) supportive care (e.g., low vision aids, psychological counselling, and technology training). In parallel, the clinical team assess the (K) co-morbidities and introduce therapies such as cataract surgery or treatment for macular oedema. This multifaceted pathway results in (I) a bespoke care plan, which assesses all aspects of their eye condition, ensuring timely access to appropriate novel and established interventions