Genetics of Glaucoma

Participate Now


Glaucoma is an eye disease where vision is lost due to damage to the optic nerve. It affects approximately 300 000 Australians and is the leading cause of irreversible blindness worldwide.

Glaucoma is an age related disease; a person’s chance of developing glaucoma significantly increases after the age of 50. Alarmingly, 1 in 2 sufferers do not know they have the disease. Loss of sight is usually gradual, with a considerable amount of peripheral vision being lost before the person is aware of any problem.

But there is hope: glaucoma blindness is preventable in most cases if diagnosed in the early stages.


This research project’s purpose is to identify specific genetic risk factors associated with risk of glaucoma. Glaucoma is one of the most strongly genetic human diseases. Whilst we already know some of the key genes involved in glaucoma risk, there are many more to be found. Identifying more genes will help us learn more about the disease as well as enabling us to more accurately predict who will and will not develop glaucoma. Prediction of who is at high risk of early onset disease is key so that sight-saving treatments can be applied in time. For more information about the study click Frequently Asked Questions.


For this study we are actively recruiting people who have a family history of glaucoma (at least one affected parent or sibling) but no personal history of the disease. We are also recruiting participants who have been diagnosed with glaucoma or have been prescribed glaucoma medication.


If you would like to contact us about this study you can email us at:


If you would like to participate in the Genetics of Glaucoma study please click on the Participate Now link below.

Participate Now

Frequently Asked Questions


Unfortunately, at this stage, we are unable to collect DNA samples from people living outside Australia.

Your health data and biological sample will be used strictly for medical research.

All research undertaken at QIMR must be approved by the QIMR Human Research Ethics Committee, to ensure that research projects that involve the use of health data and biological samples comply with the Commonwealth Privacy Act, National Health and Medical Research Council (NHMRC) guidelines, as well as other applicable national and state laws and regulations. This prevents researchers from using any sample or data collected from a participant without regulation and review from a third party.

Permission to use your health data and biological sample is sought through two stages: a scientific sub-committee that reviews the scientific merit of any data/sample sharing; followed by an ethics committee [made up of varying professions, laypeople and community members] who must determine whether the request is consistent with the participant’s original consent.   If the committee does not approve, then researchers are not allowed to proceed unless they re-contact the participant seeking their permission to share/use their information.

We may also use your de-identified health data and sample for future medical research projects, but can only do so with permission from our institutional Human Research Ethics Committee.

At the end of the study, de-identified and limited participant survey and genetic data may be deposited in a large participant database that is accessed by researchers not directly involved in this study, but who will be investigating other medical diseases and disorders in the future. The repository is a controlled-access database which means only those authorised by a research ethics committee [undergoing the same application protocol as mentioned above] will be permitted access. The only identifier participant’s data will have is a linkage ID. The key to linking this data back to your personal details is held securely by the QIMR Berghofer data research team and is not shared with anyone else.

Your personal details, questionnaire data, biological sample and genetic information will all be stored in separate, firewalled password protected databases, and the only link between your personal details and your other data is your participant identification number.  Linking your personal details and the other datasets using this number is restricted to members of the QIMR Berghofer data collection research team. Internal access to these databases and samples are compartmentalised – the data collection team can only access your personal and survey information, analysts can only access your survey information and genetic data, and laboratory staff can only access your biosample and DNA [the latter two groups only have your ID number]. This compartmentalisation protects the confidentiality of participants. When results are published they are done as aggregated data altogether, no individual results are included.

We do not plan to do any sequencing. We plan to genotype ~700,000 markers across the genome using a genotyping array.

This study is unlikely to be of any immediate and specific benefit to you. Extensive research is required to find answers to the questions we are studying. However, future medical or scientific discoveries may come from the research in which you participate, and in turn, help develop risk prediction strategies and improve available treatments and outcomes for people suffering from glaucoma. Many participants value the unique contribution that they can make to research.

Due to the specific sampling design of the study, we will not be able to provide any individualised analytical feedback to participants about their health condition, biological sample, or DNA. However, researchers will be providing everyone who participates with a newsletter. In this newsletter we will give you information about the progress and outcomes of this study.

Our research team greatly value the time and effort that you give to research.

This research is not designed to provide any clinical results to participants. If you have a personal interest in obtaining a genetic test on your DNA, we suggest you consider contacting a genetic testing entity which can provide such testing.

In this study you do not need to disclose to Insurers that you have had a genetic test.  This is because we are not providing participants any personal or family information from the research.  The only results you will receive are those from the scientific papers we publish from the combined genetic analysis of all participant’s data.  For further information, refer to this summary article discussing insurance and genetic research, as well as Section 10.3 of the Financial Services Council policy on genetic testing and research at


Our study focuses on open angle glaucoma – this condition does not typically cause pain and develops slowly (over a period of months or years). Open angle glaucoma is the most common form of glaucoma affecting Australians. The other main type of glaucoma is angle closure glaucoma – in this condition there is typically a rapid increase in eye pressure, usually causing pain. Because of the different presentation, open angle and angle closure glaucoma are not normally confused with each other.

Although some children get glaucoma, most people with the disease are aged >40, with risk increasing with age. About 3% of Australians over the age of 40 will have open angle glaucoma. There are no modifiable risk factors (e.g. environmental factors such as smoking or diet) for glaucoma. In a very small proportion of people, glaucoma can arise as result of steroid treatment – if you are concerned about this ask your doctor.

Whilst having a family history of the disease increases your risk, family history alone is not a clear predictor of your own risk. Our genetic test based on the specific genes you inherited from your parents is a more accurate prediction of your glaucoma risk than family history alone. We hope that by collecting more data, we can further improve the accuracy of this prediction tool.

You should ask your doctor or optometrist if you are concerned about your eye health. The most common form of glaucoma in Australia (open angle glaucoma) usually only develops over a period of months or years. However, there is typically no pain associated with open angle glaucoma and so if left unchecked, irreversible vision loss can occur.

We have recently published a paper describing how we believe we will be able to place people into different categories of risk for glaucoma, based on a genetic (saliva) test. This genetic test is not diagnostic (it will not tell you for sure if you will, or will not, get glaucoma). Rather, the test provides a quantitative measure of your glaucoma risk. In this sense it can be thought of as similar to a cholesterol test for assessing heart disease risk – with a cholesterol test, if you have a high value, then your doctor will help you take steps to reduce your heart disease risk. Not everyone with a high glaucoma genetic risk score will get the disease. As there are no modifiable risk factors for glaucoma, there are no changes you can make to your behaviour to reduce your glaucoma risk. However, since glaucoma is often treatable if diagnosed early, those likely to be at highest risk may benefit from screening for the disease earlier in life (or more frequent screening). If treatment is required, the most common treatment for glaucoma is eye drops.

We require specific accreditation of the genetic test that we have developed in a research setting, to be able to offer it everyone in our community. The timeline for this accreditation is difficult to predict in advance but may be a year or more away.

Whilst we believe our current genetic risk score is effectively in finding those at highest category of risk of glaucoma (and hence those who should benefit from timely treatment by a medical professional), there is still an element of chance in the prediction. By collecting DNA from more people with glaucoma (or glaucoma family history), we can build a more accurate genetic predictor of this disease. For people placed in the highest category of risk currently, they are unlikely to move to a low risk category once a more accurate genetic risk predictor has been built. However, for those in a moderately high risk category based on the current test it is more difficult to know a person’s true risk; a future, improved, genetic test will help split up this group more effectively, enabling more precise guidance to be given to a larger number of people.


The online survey is comprised of a single questionnaire. This should typically take around 10 minutes to complete. Where possible we recommend completing in a single session. You can complete the survey on a phone, tablet or computer. If you are interrupted, you can usually return and complete the questionnaire later if you continue to use the same device – if you do this, the system will usually save the pages where you fully completed them and clicked save to progress to the next page (partially completed pages will need to be started again).


If you are having trouble producing a sample, please perform the following techniques:

  • visualise squeezing a half-lemon;
  • don’t wait for 30 mins after eating.

Please note that any volume is useful, even with bubbles.

If you are still unable to produce a sample, take a teaspoon of water, vigorously swish it around in your mouth and add that to the tube.

Even if your saliva sample is discoloured in the tube (e.g., lipstick or food scraps or blood), there is still plenty of your DNA in the tube for us to extract and use. Please return it to us and if we need you to provide another sample we will be in contact.

Please find instructions on how to provide a saliva sample into the tube here.