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Raising the retinal disease treatment with Genetic Testing

According to American Academy of Ophthalmology, Genetic Testing is not important, it is relevant for most patients with presumed genetically caused retinal degeneration. The availability of Genetic Testing for inherited retinal diseases has improved over the past 5 years as a result of sponsored genetic testing, which has helped eliminate prohibitive costs and travel burdens for patients.

Panel-based testing is important for patients with IRDs, given the complexities of these conditions. Although a small number of inherited retinal conditions are caused by mutations in a single gene, the picture is not so clear cut in most cases, in which underlying mutations can be identified in any of a large number of genes. According to Karmen M. Trzupek, MS, CGC, the director of clinical trial services and ophthalmology genetics at InformedDNA in Redmond, Washington.

For the majority of patients, testing based on phenotype is no longer needed.She said that Genetic Testing helps not only to establish or clarify a clinical diagnosis but also to determine the most appropriate inheritance in order to provide counseling to the family.  The retinitis pigmentosa especially, the disease can be recessively or dominantly inherited, X-linked, or mitochondrially inherited.

Trzupek explained that it is important for surveillance and to rule syndromic disease in or out. It is crucial for children with Leber congenital amaurosis because some patients have Leber Congenital amaurosis and retinal disease, whereas others have a much more serious systemic condition.

Genetic Testing also changed or confirmed an uncertain diagnosis in 12% of patients. The testing either changed a previously suspected inheritance or confirmed the inheritance type when it was previously unclear in almost 30% of patients.

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