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The utility of genomic testing in the ophthalmology clinic: a review

journal contribution
posted on 2023-05-21, 19:35 authored by Kathryn BurdonKathryn Burdon
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.

History

Publication title

Clinical and Experimental Ophthalmology

ISSN

1442-9071

Department/School

Menzies Institute for Medical Research

Publisher

Wiley-Blackwell Publishing Asia

Place of publication

Australia

Repository Status

  • Restricted

Socio-economic Objectives

Diagnosis of human diseases and conditions

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    University Of Tasmania

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