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Genomic testing is an extension of genetic testing that seeks to test many genes in one test. It is regularly used in the diagnosis of heterogeneous single gene diseases where pathogenic variation in one of many genes are known to cause a similar phenotype, or in cases where a clinical diagnosis is difficult to reach. In the ophthalmic setting, genomic testing can be used to diagnose several groups of diseases, including inherited retinal dystrophies, paediatric cataract, glaucoma and anterior segment dysgenesis and other syndromic developmental disorders with eye involvement. The testing can encompass several modalities ranging from whole genome sequencing to exome sequencing or targeted gene panels. The interpretation of the test results requires careful consideration against a set of criteria and taking into account the detailed clinical phenotype. In difficult cases this is best achieved through an expert review panel or multi-disciplinary team. The advantages to the patient of receiving a molecular diagnosis are many, including an end to the diagnostic odyssey experienced by patients with rare disease, determination of prognosis and clarification of treatment or monitoring plans, the ability to access accurate genetic counselling including recurrence risk and family planning, and confirming eligibility for clinical trials or genetic specific therapies. Genomic testing is a powerful addition to the diagnosis and management of inherited eye disease.

Item Type:	Non Refereed Article
Keywords:	genomics
Research Division:	Biomedical and Clinical Sciences
Research Group:	Ophthalmology and optometry
Research Field:	Ophthalmology
Objective Division:	Health
Objective Group:	Clinical health
Objective Field:	Diagnosis of human diseases and conditions
UTAS Author:	Burdon, K (Professor Kathryn Burdon)
ID Code:	145314
Year Published:	2021
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2021-07-15
Last Modified:	2021-07-20
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