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The Genomic Medicine Revolution

in Achievements, Research

9 Dec 2016

Associate Professor John Grigg, 25 November 2016

The ability to accurately diagnose genetic ophthalmic conditions is critical to facilitating effective counselling, disease treatment and management.

The genomic medicine revolution is providing answers for many families with inherited eye disease. The implementation of next generation genetic screening starting to be introduced into clinical practice is the principal enabler for these advances. Where previously only one gene could be tested at a time, now many hundreds can be tested simultaneously. This ability is extremely helpful in inherited eye diseases since both the retinal disorders and the developmental eye, including congenital cataract, are very heterogenous conditions. This means that many different genes can produce the same clinical features, making selecting a single gene to test almost impossible.

The power of the technology is also adding to the complexity when interpreting the genetic results. Genetic variants are being identified in individuals in both known and novel genes. The clinical challenge is to determine whether these variants of uncertain significance are in fact disease causing or just another normal genetic variant (polymorphism) that may exist in the unaffected community.

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