Patient information - Glaucoma

Patient information glaucoma

What is Primary Open Angle Glaucoma?

Primary Open Angle Glaucoma (called “glaucoma” on this website) is an eye condition in which loss of vision results from optic nerve damage, most often due to increased pressure within the eye. It mainly occurs when the eye’s drainage canals become clogged over time and the correct amount of fluid can’t drain out of the eye. Loss of vision in glaucoma is usually gradual and affects peripheral (side) vision first. There can be significant loss of vision before there is an awareness of any problem.

In Australia, 300,000 people have glaucoma; about 1 in 200 people have glaucoma by age 40, increasing to 1 in 8 by age 80. Around 50% of glaucoma is undiagnosed1.

Vision lost to glaucoma is unfortunately irreversible once it has occurred. However, once diagnosed, glaucoma can usually be managed successfully with eye drops, laser therapy, or surgery.

Glaucoma has a strong genetic component. Family members of people with glaucoma have a higher risk of the condition.

What is Primary Open Angle Glaucoma?

Primary Open Angle Glaucoma (called “glaucoma” on this website) is an eye condition in which loss of vision results from optic nerve damage, most often due to increased pressure within the eye. It mainly occurs when the eye’s drainage canals become clogged over time and the correct amount of fluid can’t drain out of the eye. Loss of vision in glaucoma is usually gradual and affects peripheral (side) vision first. There can be significant loss of vision before there is an awareness of any problem.

In the United States, more than 3 million people have glaucoma; about 1 in 200 people have glaucoma by age 40, increasing to 1 in 8 by age 80. It is 3-4 times more common in African Americans and Latino’s1. Around 50% of glaucoma is undiagnosed.

Vision lost to glaucoma is unfortunately irreversible once it has occurred. However, once diagnosed, glaucoma can usually be managed successfully with eye drops, laser therapy, or surgery.

Glaucoma has a strong genetic component. Family members of people with glaucoma have a higher risk of the condition.

What are the main risk factors for glaucoma?

The risk that a person will develop glaucoma in future, or that already-diagnosed glaucoma will get worse, depends on a wide range of factors2. These include:

  • Risk factors such as an age over 50, a family history of glaucoma, or being of African descent
  • Clinical features such as high eye pressure, certain types of vision loss, or signs of optic nerve damage
  • Variations in genes that influence the risk of glaucoma

What are the main risk factors for glaucoma?

The risk that a person will develop glaucoma in future, or that already-diagnosed glaucoma will get worse, depends on a wide range of factors2. These include:

  • Risk factors such as an age over 50, a family history of glaucoma, or being of African descent
  • Clinical features such as high eye pressure, certain types of vision loss, or signs of optic nerve damage
  • Variations in genes that influence the risk of glaucoma

How can genetics be used to assess glaucoma risk?

Humans share the same genetic code apart from some differences, called genetic variants, that make each of us unique. Some of these variants are known to increase the risk of developing glaucoma, while others reduce the risk. It is possible to combine the risks from hundreds or thousands of these genetic variants to estimate a person’s genetic risk of developing glaucoma in future or, if they already have glaucoma, the risk their glaucoma might get worse, relative to others in the community.

chart showing the lowest risk to highest risk individuals

How can genetics be used to assess glaucoma risk?

Humans share the same genetic code apart from some differences, called genetic variants, that make each of us unique. Some of these variants are known to increase the risk of developing glaucoma, while others reduce the risk. It is possible to combine the risks from hundreds or thousands of these genetic variants to estimate a person’s genetic risk of developing glaucoma in future or, if they already have glaucoma, the risk their glaucoma might get worse, relative to others in the community.

chart showing the lowest risk to highest risk individuals

How does genetic risk relate to family history?

Blood relatives (e.g. parents, brothers/sisters, adult children) share parts of their genetic code and will have some of the same genetic variants. Thus, for conditions with a strong genetic contribution, such as glaucoma, a healthcare practitioner will take account of a person’s family history when assessing their risk.

However, a family history is not the same as a person’s individual genetic risk. It is possible to have a high genetic risk of glaucoma without a family history of the condition. It is also possible to have a family history of glaucoma and have a lower individual genetic risk. This is because a family history does not mean a person has personally inherited the genetic variants that increase the risk of glaucoma.

Analysing a person’s unique genetic code may provide a health practitioner additional information about an individual’s risk of developing glaucoma relative to others with a family history of glaucoma.

How does genetic risk relate to family history?

Blood relatives (e.g. parents, brothers/sisters, adult children) share parts of their genetic code and will have some of the same genetic variants. Thus, for conditions with a strong genetic contribution, such as glaucoma, a healthcare practitioner will take account of a person’s family history when assessing their risk.

However, a family history is not the same as a person’s individual genetic risk. It is possible to have a high genetic risk of glaucoma without a family history of the condition. It is also possible to have a family history of glaucoma and have a lower individual genetic risk. This is because a family history does not mean a person has personally inherited the genetic variants that increase the risk of glaucoma.

Analysing a person’s unique genetic code may provide a health practitioner additional information about an individual’s risk of developing glaucoma relative to others with a family history of glaucoma.

How is genetic testing performed?

Genetic testing may be performed by collecting a saliva sample, extracting the DNA inside, and then analysing genetic results.

SightScoreTM is a clinical genetic testing service provided by Seonix Bio, based on an accredited genetic risk score. It estimates a person’s genetic risk of developing glaucoma in future or, if they already have glaucoma, the risk their glaucoma might get worse, relative to others in the community.

If you have glaucoma or symptoms of glaucoma SightScore must be ordered be an appropriate health practitioner, most commonly an optometrist or ophthalmologist.

If you do not currently have glaucoma or symptoms of glaucoma you can order the SightScore test through our SightScore Family testing service.

How is genetic testing performed?

Genetic testing may be performed by collecting a saliva sample, extracting the DNA inside, and then analysing genetic results.

SightScoreTM is a clinical genetic testing service provided by Seonix Bio. It estimates a person’s genetic risk of developing glaucoma in future or, if they already have glaucoma, the risk their glaucoma might get worse, relative to others in the community. SightScore must be ordered be an appropriate health practitioner, most commonly an optometrist or ophthalmologist*.

How can glaucoma risk information be used by a healthcare practitioner?

Together with other clinical features, examination and medical history, a healthcare practitioner may use glaucoma genetic risk information to consider how to manage:

  • The age for a person’s first glaucoma check,
  • How often a person should be checked for glaucoma,
  • Whether a person is best monitored in optometry or ophthalmology,
  • How best to care for a person with glaucoma, including some treatment decisions; and
  • Whether blood relatives (parents, brothers/sisters, adult children) should be checked for glaucoma.

It may also be useful for individuals to better understand their risk so they can be proactive in their healthcare.

How can glaucoma risk information be used by a healthcare practitioner?

Together with other clinical features, examination and medical history, a healthcare practitioner may use glaucoma genetic risk information to consider how to manage:

  • The age for a person’s first glaucoma check,
  • How often a person should be checked for glaucoma,
  • Whether a person is best monitored in optometry or ophthalmology,
  • How best to care for a person with glaucoma, including some treatment decisions; and
  • Whether blood relatives (parents, brothers/sisters, adult children) should be checked for glaucoma.

It may also be useful for individuals to better understand their risk so they can be proactive in their healthcare.

What can be done about glaucoma risk?

The most important thing is to follow the advice of a healthcare practitioner and particularly, to attend regular eye health check-ups. Once diagnosed, glaucoma can usually be managed successfully with eye drops, laser therapy, or surgery. A key goal of care is to detect glaucoma as early as possible.

A healthy lifestyle, including moderate exercise and a balanced diet, is also recommended3.

What can be done about glaucoma risk?

The most important thing is to follow the advice of a healthcare practitioner and particularly, to attend regular eye health check-ups. Once diagnosed, glaucoma can usually be managed successfully with eye drops, laser therapy, or surgery. A key goal of care is to detect glaucoma as early as possible.

A healthy lifestyle, including moderate exercise and a balanced diet, is also recommended3.

References

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

2. Grzybowski A, et al., 2020. Primary Open Angle Glaucoma and Vascular Risk Factors: A Review of Population Based Studies from 1990 to 2019. J Clin Med. 9(3):761.

3. Pasquale LR, Kang JH., 2009. Lifestyle, nutrition, and glaucoma. J Glaucoma. 18(6):423-8.

References

1. Prevalence of Open-Angle Glaucoma Among Adults in the United States, Archives of Ophthalmology 2004; 122:532-53

2. Grzybowski A, et al., 2020. Primary Open Angle Glaucoma and Vascular Risk Factors: A Review of Population Based Studies from 1990 to 2019. J Clin Med. 9(3):761.

3. Pasquale LR, Kang JH., 2009. Lifestyle, nutrition, and glaucoma. J Glaucoma. 18(6):423-8.

 

*This test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through premarket FDA review. This is performed as a certified test under the Clinical Laboratory Improvement Amendments Act of 1988.

Frequently asked questions

Humans share the same genetic code apart from some differences, called genetic variants, that make each of us unique. Some of these variants are known to increase the risk of developing certain health conditions, while others reduce the risk. It is possible to combine the risks from thousands or millions of these genetic variants to estimate the overall risk of a person developing a particular health condition, such as glaucoma. This overall risk is known as a polygenic risk score. In some cases, a polygenic risk score may also be linked to the potential severity of the health condition and the way it might develop over time.

SightScore is a saliva test that looks at millions of genetic variants in your DNA to estimate your genetic risk of developing primary open angle glaucoma in the future, or if you already have glaucoma, the risk that your glaucoma might get worse, relative to others in the community with similar ancestry. It has received regulatory approval by the National Association of Testing Authorities (NATA) for use in Australia and New Zealand.

No. SightScore only looks at an individual’s genetic risk of developing adult-onset primary open angle glaucoma. It does not test for angle closure glaucoma. It does not test for congenital glaucoma.

Blood relatives – e.g. parents, brothers/sisters, adult children – share parts of their genetic code and will have some of the same genetic variants, and some that are different. For conditions with a strong genetic contribution, such as glaucoma, a healthcare practitioner will take into account a person’s family history when assessing their risk.

However, a family history is not the same as a person’s individual genetic risk. It is possible to have a high genetic risk of glaucoma without a family history of the condition. It is also possible to have a family history of glaucoma and have a low individual genetic risk. This is because a family history does not mean a person has personally inherited the genetic variants that increase the risk of glaucoma.

SightScore is a personalised test which uses a person’s own DNA to assess their individual genetic risk of developing glaucoma. Analysing a person’s unique genetic code may provide a health practitioner additional information about an individual’s risk of developing glaucoma relative to others with a family history of glaucoma.

SightScore does not account for: age, family history or environmental factors.

SightScore only estimates genetic risk. It does not take these other things into account. However, a healthcare practitioner will consider them when advising about future health care.

A small number of people will have a single ‘rare’ genetic variant associated with an increased risk of glaucoma by itself (e.g. Myocilin).  SightScore does not test for these rare variants, and only provides an overall polygenic risk score. A healthcare practitioner may discuss referring you to a general genetics service or ordering separate testing of these variants in cases it is warranted, based on family history and other clinical considerations.

Seonix complies with the most stringent local and international privacy and security regulations. We take incredible care to use technical, process and physical safeguards to secure your personal information and protect it against misuse, loss or alteration.

We only disclose your personal information where it is necessary to provide our products and services to you or for other legitimate purposes described in our Privacy Policy.

If you have glaucoma or have been told you are a glaucoma suspect by your optometrist or ophthalmologist, then you can only be referred for a test by a health practitioner. If you do not have glaucoma or symptoms of glaucoma then you can request a test using our SightScore Family Service.

Seonix or your health practitioner will give you a SightScore test kit. This kit contains a saliva swab collection tube and instructions on how to collect your saliva sample. Follow the instructions to collect and submit your sample.

If you would like additional help, please watch the video below:

https://www.dnagenotek.com/row/support/collection-instructions/oracollect-dna/OCR-100.html

Please go to www.seonixbio.com/register and follow the SightScore Registration and Collection Instructions provided with your kit. You will need your Referral ID number which has been sent to you via SMS and email.

Please check that you are entering the correct Referral ID, name and date of birth. These must exactly match the details in the referral from your health practitioner. You can check which first and last name were used on the referral by looking at the email and SMS correspondence we send you. If you are having problems it is worth checking if the first and last name on your referral have been mixed up, a spelling error has been made, or if you use more than one first name (e.g. an English version and a non-English version) please make sure you use the version of your name used on the referral. Please contact support@seonixbio.com if you continue to have problems.

Some people will pay for their test at their health practitioners, whilst others will pay for their test online. For those patients who are paying Seonix online for their test they will be sent a payment link via email.  If you do not receive this link you can go to www.seonixbio.com/pay and enter your Referral ID, which you will have received via SMS and email.

Once our laboratory receives your saliva sample, they isolate your DNA and analyse millions of locations across your genome to find genetic variants that either increase or decrease your risk of developing primary open angle glaucoma. SightScore combines the effects of these variants and compares your score to others in the community with similar ancestry.

Once your sample has arrived at our laboratory, it typically takes 4-6 weeks for your results to become available. If you were referred by a health practitioner, your results will be returned to them and they will share them with you. If you ordered your test through our SightScore Family service, then you will receive an email when your results are ready to be downloaded.

SightScore is not covered by Medicare or private health insurance at this time. You will need to pay for your kit either at your health practitioner or at the time of kit registration. We will not process your sample if you have not paid for your test.

Genetic testing can have an impact on some types of insurance, particularly life insurance. There is currently a moratorium on genetic tests in life insurance, which means that genetic test results cannot be used as part of an insurance application up to the value of $500,000 (for death and total permanent disability), $200,000 for trauma and $4,000 a month for income protection.

For more information, please see Centre for Genetics Education or  Financial Services Council websites.

Frequently asked questions

Humans share the same genetic code apart from some differences, called genetic variants, that make each of us unique. Some of these variants are known to increase the risk of developing certain health conditions, while others reduce the risk. It is possible to combine the risks from thousands or millions of these genetic variants to estimate the overall risk of a person developing a particular health condition, such as glaucoma. This overall risk is known as a polygenic risk score. In some cases, a polygenic risk score may also be linked to the potential severity of the health condition and the way it might develop over time.

SightScore is a saliva test that looks at millions of genetic variants in your DNA to estimate your genetic risk of developing primary open angle glaucoma in the future, or if you already have glaucoma, the risk that your glaucoma might get worse, relative to others in the community with similar ancestry.

No. SightScore only looks at an individual’s genetic risk of developing adult-onset primary open angle glaucoma. It does not test for angle closure glaucoma. It does not test for congenital glaucoma.

Blood relatives – e.g. parents, brothers/sisters, adult children – share parts of their genetic code and will have some of the same genetic variants, and some that are different. For conditions with a strong genetic contribution, such as glaucoma, an eye health professional will take into account a person’s family history when assessing their risk.

However, a family history is not the same as a person’s individual genetic risk. It is possible to have a high genetic risk of glaucoma without a family history of the condition. It is also possible to have a family history of glaucoma and have a low individual genetic risk. This is because a family history does not mean a person has personally inherited the genetic variants that increase the risk of glaucoma.

SightScore is a personalized test which uses a person’s own DNA to assess their individual genetic risk of developing glaucoma. Analysing a person’s unique genetic code may provide an eye health professional additional information about an individual’s risk of developing glaucoma relative to others with a family history of glaucoma.

SightScore does not account for: age, family history or environmental factors.

SightScore only estimates genetic risk. It does not take these other things into account. However, an eye health professional will consider them when advising about future health care.

A small number of people will have a single ‘rare’ genetic variant associated with an increased risk of glaucoma by itself (e.g. Myocilin).  SightScore does not test for these rare variants, and only provides an overall polygenic risk score. An eye health professional may discuss referring you to a general genetics service or ordering separate testing of these variants in cases it is warranted, based on family history and other clinical considerations.

Seonix complies with the most stringent local and international privacy and security regulations. We take incredible care to use technical, process and physical safeguards to secure your personal information and protect it against misuse, loss or alteration.

We only disclose your personal information where it is necessary to provide our products and services to you or for other legitimate purposes described in our Privacy Notice.

You can only be referred for a test by an eye health professional.

Seonix or your eye health professional will provide you with a SightScore test kit. This kit contains a saliva swab collection tube and instructions on how to collect your saliva sample. Follow the instructions to collect and submit your sample.

If you would like additional help, please watch the video below:

https://www.dnagenotek.com/row/support/collection-instructions/oracollect-dna/OCR-100.html

Please go to www.seonixbio.com/register and follow the SightScore Registration and Collection Instructions provided with your kit. You will need your Referral ID number which has been sent to you by email.

Please check that you are entering the correct Referral ID, name and date of birth. These must exactly match the details in the referral from your health practitioner. You can check which first and last name were used on the referral by looking at the email and SMS correspondence we send you. If you are having problems it is worth checking if the first and last name on your referral have been mixed up, a spelling error has been made, or if you use more than one first name (e.g. an English version and a non-English version) please make sure you use the version of your name used on the referral. Please contact support@seonixbio.us if you continue to have problems.

Some people will pay for their test at their eye health professionals, whilst others will pay for their test online. For those patients who are paying Seonix online for their test they will be sent a payment link via email.  If you do not receive this link you can go to www.seonixbio.com/pay and enter your Referral ID, which you will have received by email.

Once our laboratory receives your saliva sample, they isolate your DNA and analyse millions of locations across your genome to find genetic variants that either increase or decrease your risk of developing primary open angle glaucoma. SightScore combines the effects of these variants and compares your score to others in the community with similar ancestry.

Once your sample has arrived at our laboratory, it typically takes 4-6 weeks for your results to become available. Your results will be returned to the eye health professional that referred you for SightScore and they will share them with you.

SightScore is not covered by Medicare, Medicaid or health insurance at this time. You will need to pay for your kit either at your eye health professional or at the time of kit registration. We will not process your sample if you have not paid for your test.