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The utility of genomic testing in the ophthalmology clinic: a review
Citation
Burdon, K, The utility of genomic testing in the ophthalmology clinic: a review, Clinical and Experimental Ophthalmology ISSN 1442-9071 (2021) [Non Refereed Article]
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Abstract
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 Details
| 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 |
| Web of Science® Times Cited: | 1 |
| Deposited By: | Menzies Institute for Medical Research |
| Deposited On: | 2021-07-15 |
| Last Modified: | 2021-07-20 |
| Downloads: | 0 |
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