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Genetic Testing

Eye Exam

Using genetics to predict glaucoma risk

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If you have a family history of glaucoma, a new genetic test is now available to calculate the risk of developing primary open angle glaucoma.

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This salvia-based swab test is processed in Australia by Seonix Bio, a company founded by Professor Jamie Craig, an ophthalmologist and researcher with the results being available in approximately 4-6 weeks.

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The SightScore report provides a polygenic risk score score looking at multiple gene that influence glaucoma.

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The cost of the test is $475 and is now available at Frith and Laird. If you are concerned about developing glaucoma, get in touch and we can discuss if the test is suitable for you.

 

References

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Craig, J.E., Han, X., Qassim, A. et al. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet 52, 160–166 (2020). https://doi.org/10.1038/s41588-019-0556-y

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Siggs OM, Han X, Qassim A, et al. Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. JAMA Ophthalmol. 2021;139(9):1023–1028. doi:10.1001/jamaophthalmol.2021.2440

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Polygenic-risk-score-graphic.jpg
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