Questions to Ask Your Eye Health Provider About Genetic Testing
Genetic testing is becoming an increasingly important part of modern eye care—particularly for conditions like glaucoma, where genetics plays a significant role in risk, progression, and long-term outcomes. But for many patients, the idea of genetic testing can feel confusing, overwhelming, or intimidating.
Knowing the right questions to ask can make a huge difference. This guide is designed to empower you with simple, practical conversation starters so you can confidently discuss genetic testing with your optometrist or ophthalmologist and understand what it might mean for your eye health and your family.
You don’t need to be an expert in genetics—your role is simply to ask, understand, and make informed choices that feel right for you.
Why Talk to Your Eye Doctor About Genetic Testing?
Glaucoma has a strong genetic component. Advances in genetic research mean that testing can provide insights into your risk of developing glaucoma or how your condition might progress. Genetic information can complement clinical examinations and help tailor monitoring and treatment strategies.
Genetic testing doesn’t replace eye examinations or scans—but it can add another layer of information that helps guide:
- Risk assessment
- Monitoring frequency
- Timing of treatment
- Screening of family members
- Long-term management planning
Having a conversation about genetics is not about making decisions immediately—it’s about understanding your options.
A Practical Checklist: Questions to Ask Your Eye Doctor
You can print this list, save it on your phone, or bring it to your appointment.
- “Is SightScore relevant for my diagnosis?”
SightScore is designed to assess genetic risk for Primary Open Angle Glaucoma (POAG). While research suggests genetic risk scores may provide useful insights across different glaucoma types, the test is specifically validated for POAG.
If you have:
- Angle closure glaucoma
- Congenital glaucoma
- A rare glaucoma syndrome
- Another eye condition …
your provider can explain whether the feel PRS testing is still useful and what information it may (or may not) provide.
- Should I Consider Polygenic Risk Score (PRS) Testing or Single-Gene (monogenic) Testing?
- Polygenic Risk Scores (PRS): Combine information from many genetic variants to estimate overall risk. PRS testing is useful for most people and helps stratify risk across the population.
- Single-gene (monogenic) testing: Looks for rare variants in specific genes, such as MYOC, that can be associated with glaucoma.
PRS testing is appropriate in the majority of glaucoma cases. However, single-gene testing may be considered when there is:
- Very young age of onset
- Strong multi-generational family history
- Severe or aggressive disease patterns
- Clinical features suggestive of a genetic syndrome
Your clinician can help guide which approach is most appropriate.
- How could genetic testing affect my treatment or management?
Conversation starter:
“If I had a high or low genetic risk score, how would that change my care?”
This is one of the most important questions to ask.
Examples of how PRS results might influence care include:
- For glaucoma suspects: A high genetic risk score may support starting treatment earlier rather or more frequent monitoring than current standard of care.
- For early glaucoma: High genetic risk may support more intensive monitoring or earlier escalation of treatment.
- For lower genetic risk: It may support longer observation before starting treatment or a more conservative approach.
Genetic testing doesn’t make decisions—it informs decisions.
- How do I receive and pay for my test kit?
Different clinics manage testing logistics differently:
- Some clinics have kits available on-site and payment is made at the appointment
- Other clinics arrange for the kit to be shipped directly to your home
Understanding the process can help avoid confusion and delays.
- How Will I Receive My Results?
Clinics vary in how they communicate results. Some clinicians prefer to discuss results in person during your next appointment, while others may contact you by phone or email beforehand.
Discussing this upfront ensures you know what to expect and can prepare for any questions.
- What Do the Results Mean for My Family?
Because glaucoma has a genetic component, your results may have implications for family members. Genetic risk information can help identify relatives who may benefit from earlier or more frequent eye checks. While this doesn’t mean they will definitely develop glaucoma—it may influence:
- Screening age
- Monitoring frequency
- Risk awareness
- Preventive eye care
Your clinician or a genetic counsellor can explain how results are shared with family and how to communicate this information.
- What can this test NOT tell me?
It’s important to understand what a PRS can & cannot tell you.
- Genetic risk is not a diagnosis
- A low-risk result does not mean “no risk”
- A high-risk result does not mean glaucoma is inevitable
- Genetics is only one part of overall risk
Understanding limitations prevents false reassurance or unnecessary anxiety.
- Could genetic testing affect my insurance?
In Australia, a person’s current or future health does not affect their ability to get private health insurance in the long term. The result of a genetic test has no impact on eligibility for health insurance, or the cost of premiums.
Additionally, there is currently a moratorium on the use of genetic test results in life insurance up to specific policy limits. Your clinician or a genetic counsellor can explain what this means for you and provide helpful informational resources such as those from the Centre for Genetics Education or the Financial Services Council.
- Should I speak with a genetic counsellor before or after testing?
Genetic counsellors are trained to explain genetic information, support decision-making, and discuss emotional and family implications. Seeing a genetic counsellor can be particularly helpful if:
- You have a strong family history
- You are worried about what results might mean
- You are considering sharing results with relatives
Your eye doctor can help arrange a referral to the SeonixBio genetic counsellor if this is something you believe you could benefit from.
- How Can I Use This Information to Protect My Vision?
Genetic testing is most powerful when combined with proactive eye care. Ask your provider how you can use your results to:
- Schedule appropriate eye checks
- Start treatment early if needed
- Encourage family screening
- Maintain healthy lifestyle habits that support eye health
Final Thoughts: Start the Conversation
Genetic testing for glaucoma is a rapidly evolving field that offers new opportunities for personalised eye care. By asking the right questions, you can better understand your options, clarify how results will be used, and feel empowered in your healthcare decisions.
If you’re considering genetic testing, bring this checklist to your next appointment and use it as a starting point for a meaningful conversation with your eye doctor. Your vision is precious—being informed is one of the most powerful steps you can take to protect it.
___________________________________________________________________________
Wondering if genetic testing is right for you? Visit seonixbio.com or discuss SightScore™ with your eye care provider.
Questions to Ask Your Eye Health Provider About Genetic Testing
Genetic testing is becoming an increasingly important part of modern eye care—particularly for conditions like glaucoma, where genetics plays a significant role in risk, progression, and long-term outcomes. But for many patients, the idea of genetic testing can feel confusing, overwhelming, or intimidating.
Knowing the right questions to ask can make a huge difference. This guide is designed to empower you with simple, practical conversation starters so you can confidently discuss genetic testing with your optometrist or ophthalmologist and understand what it might mean for your eye health and your family.
You don’t need to be an expert in genetics—your role is simply to ask, understand, and make informed choices that feel right for you.
Why Talk to Your Eye Doctor About Genetic Testing?
Glaucoma has a strong genetic component. Advances in genetic research mean that testing can provide insights into your risk of developing glaucoma or how your condition might progress. Genetic information can complement clinical examinations and help tailor monitoring and treatment strategies.
Genetic testing doesn’t replace eye examinations or scans—but it can add another layer of information that helps guide:
- Risk assessment
- Monitoring frequency
- Timing of treatment
- Screening of family members
- Long-term management planning
Having a conversation about genetics is not about making decisions immediately—it’s about understanding your options.
A Practical Checklist: Questions to Ask Your Eye Doctor
You can print this list, save it on your phone, or bring it to your appointment.
- “Is SightScore relevant for my diagnosis?”
SightScore is designed to assess genetic risk for Primary Open Angle Glaucoma (POAG). While research suggests genetic risk scores may provide useful insights across different glaucoma types, the test is specifically validated for POAG.
If you have:
- Angle closure glaucoma
- Congenital glaucoma
- A rare glaucoma syndrome
- Another eye condition …
your provider can explain whether the feel PRS testing is still useful and what information it may (or may not) provide.
- Should I Consider Polygenic Risk Score (PRS) Testing or Single-Gene (monogenic) Testing?
- Polygenic Risk Scores (PRS): Combine information from many genetic variants to estimate overall risk. PRS testing is useful for most people and helps stratify risk across the population.
- Single-gene (monogenic) testing: Looks for rare variants in specific genes, such as MYOC, that can be associated with glaucoma.
PRS testing is appropriate in the majority of glaucoma cases. However, single-gene testing may be considered when there is:
- Very young age of onset
- Strong multi-generational family history
- Severe or aggressive disease patterns
- Clinical features suggestive of a genetic syndrome
Your clinician can help guide which approach is most appropriate.
- How could genetic testing affect my treatment or management?
Conversation starter:
“If I had a high or low genetic risk score, how would that change my care?”
This is one of the most important questions to ask.
Examples of how PRS results might influence care include:
- For glaucoma suspects: A high genetic risk score may support starting treatment earlier rather or more frequent monitoring than current standard of care.
- For early glaucoma: High genetic risk may support more intensive monitoring or earlier escalation of treatment.
- For lower genetic risk: It may support longer observation before starting treatment or a more conservative approach.
Genetic testing doesn’t make decisions—it informs decisions.
- How do I receive and pay for my test kit?
Different clinics manage testing logistics differently:
- Some clinics have kits available on-site and payment is made at the appointment
- Other clinics arrange for the kit to be shipped directly to your home
Understanding the process can help avoid confusion and delays.
- How Will I Receive My Results?
Clinics vary in how they communicate results. Some clinicians prefer to discuss results in person during your next appointment, while others may contact you by phone or email beforehand.
Discussing this upfront ensures you know what to expect and can prepare for any questions.
- What Do the Results Mean for My Family?
Because glaucoma has a genetic component, your results may have implications for family members. Genetic risk information can help identify relatives who may benefit from earlier or more frequent eye checks. While this doesn’t mean they will definitely develop glaucoma—it may influence:
- Screening age
- Monitoring frequency
- Risk awareness
- Preventive eye care
Your clinician or a genetic counsellor can explain how results are shared with family and how to communicate this information.
- What can this test NOT tell me?
It’s important to understand what a PRS can & cannot tell you.
- Genetic risk is not a diagnosis
- A low-risk result does not mean “no risk”
- A high-risk result does not mean glaucoma is inevitable
- Genetics is only one part of overall risk
Understanding limitations prevents false reassurance or unnecessary anxiety.
- How Can I Use This Information to Protect My Vision?
Genetic testing is most powerful when combined with proactive eye care. Ask your provider how you can use your results to:
- Schedule appropriate eye checks
- Start treatment early if needed
- Encourage family screening
- Maintain healthy lifestyle habits that support eye health
Final Thoughts: Start the Conversation
Genetic testing for glaucoma is a rapidly evolving field that offers new opportunities for personalised eye care. By asking the right questions, you can better understand your options, clarify how results will be used, and feel empowered in your healthcare decisions.
If you’re considering genetic testing, bring this checklist to your next appointment and use it as a starting point for a meaningful conversation with your eye doctor. Your vision is precious—being informed is one of the most powerful steps you can take to protect it.
___________________________________________________________________________
Wondering if genetic testing is right for you? Visit seonixbio.com or discuss SightScore™ with your eye care provider.
