Accredited glaucoma risk prediction for the clinic

Using genetics to predict glaucoma risk

Our clinical services deliver genetic risk information to help health professionals manage glaucoma risk.

                                                                                Genetic risk 
 prediction                                                                            

An individual’s genetic risk of developing glaucoma

Clinically relevant information

Linked to a range of clinically relevant outcomes

                                                                                World-leading 
 team                                                                            

Experienced clinicians, geneticists, and bioinformaticians

Glaucoma

Glaucoma is a group of eye diseases that cause progressive vision loss by damaging the optic nerve. Glaucoma progression is often gradual and individuals may not realise they are losing peripheral vision until optic nerve damage has occurred¹.

Normal vision

Early stage

Intermediate

Advanced

Genetic risk scores

Genetic testing is widely used to assess the risk of diseases caused by changes in a single gene.  However, many diseases – including glaucoma – are polygenic, that is they are influenced by a large number of genetic variants scattered throughout the genome. Genetic risk scores are a powerful new approach that combine the effects of hundreds or thousands of these variants to predict an individual’s disease risk and how it compares to others in a population.

A genetic risk score for glaucoma

We have developed a genetic risk score service for glaucoma, called SightScore^TM. Glaucoma is well suited for genetic risk score analysis due to its high heritability. Our approach has been published in world leading journals such as Nature Genetics² and JAMA Ophthalmology³ and was developed using some of the world’s most extensive glaucoma patient sample collections. Our approach has since been significantly improved. It has been associated with a range of clinically relevant measures associated with glaucoma risk.

Our genetic risk score can be calculated using a simple, saliva-based testing approach.

Saliva collection

DNA analysis

Genetic risk calculation

Results

Intended use

The SightScore^TM service is available to health professionals to identify patients at risk of glaucoma and glaucoma progression, and may inform consideration of timing and frequency of monitoring, healthcare management setting, and treatment plan. SightScore is currently available in Australia and New Zealand.

References

1. Glaucoma Australia. https://glaucoma.org.au/

2. Craig, J.E et. al (2020). Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nature Genetics.

3. Siggs, O.M. et al. (2021). Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. JAMA Ophthalmol.