Patient Information
Patient Information
Seonix is committed to protecting vision, using personalised genetic insights to determine an individual’s risk of developing blinding eye diseases.
Our tests provide actionable information on:
- Lifetime risk of developing eye disease
- Age at which monitoring should be started and its frequency.
- Management of your care, including lifestyle modifications and treatment decisions.
- Whether your blood relatives should be monitored for eye disease.
SightScore Glaucoma is our test for glaucoma.
SightScore AMD is our test for age-related macular degeneration (AMD).
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
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.
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. 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.
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. 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 or AMD. 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 up to millions of genetic variants in your DNA to estimate your genetic risk of developing an eye disease in the future, or if you already have the disease, the risk that your it 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.
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 or AMD, 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 eye disease without a family history of the disease. It is also possible to have a family history of eye disease 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 the disease.
SightScore is a personalised test which uses a person’s own DNA to assess their individual genetic risk of developing eye disease. Analysing a person’s unique genetic code may provide a health practitioner additional information about an individual’s risk of developing eye disease relative to others with a family history of disease.
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.
In most people, the risk of developing a particular eye disease is influenced by many common genetic variants. Most of these variants contribute a small amount individually to the risk of developing each eye disease, though some may contribute more significantly. The SightScore test looks at many of these variants, to estimate overall risk. Occasionally, a person will have a very rare single variant in a key gene that has a large impact on the risk of developing a particular disease. SightScore does not test for these rare variants.
In certain cases – for example, if there is a strong family history or other clinical features – your healthcare provider may recommend separate testing for these rare variants.
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 an eye disease or have been told you have early signs of disease (e.g. glaucoma suspect) by your optometrist or ophthalmologist, then you can only be referred for a test by a health practitioner. If you do not disease or signs of disease for 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 up to millions of locations across your genome to find genetic variants that either increase or decrease your risk of developing eye disease. 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.