Clinician information

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What is SightScore?

SightScoreTM is a polygenic risk score which combines the risk from thousands of genetic variants to estimate a person’s genetic risk of developing Primary Open Angle Glaucoma (hereafter “glaucoma”) in future or, if they already have glaucoma, the risk their glaucoma might progress to more severe disease, relative to others in the community. SightScore is provided as a clinical genetics service.

SightScore assists clinicians to identify individuals at highest genetic risk of glaucoma, so they can be appropriately prioritized and managed, to increase the likelihood that any glaucoma or glaucoma progression can be detected earlier. It may also help clinicians identify those at lower genetic risk of glaucoma.

The SightScore polygenic risk score is NATA accredited to ISO15189 standards.

Process

SightScore can be referred online by an appropriate health professional (usually an optometrist or ophthalmologist) and involves a simple saliva collection process, followed by genetic analysis, and receipt of clinical report in the secure online Seonix Clinician Portal. Saliva collection is simple and can be performed by the patient or health practitioner.

To refer your first patient, contact Seonix Bio at info@seonixbio.com and we will set you up with an account on the Seonix Clinician Portal. It’s easy to setup and referral is simple and fast.

Refer online in Seonix Clinician Portal and collect saliva
Send to lab for DNA analysis
Genetic risk calculation
Receive clinical report in Seonix Clinician Portal

Evidence

SightScore is based on research and clinical validation published in leading journals. It was developed using genome wide association studies using over 400,000 individuals1 and has been improved and validated in a range of clinical cohorts1,2,3,4.

It is associated with a range of risk outcomes, including:

  • Risk of glaucoma
  • Age of glaucoma onset
  • Need for treatment initiation in treatment naive glaucoma suspects and ocular hypertensives
  • Need for treatment escalation in glaucoma cases
  • Need for incisional surgery in glaucoma cases
  • Number of family members with glaucoma

Patient populations

SightScore can be requested for four patient populations:

  • Unaffected individuals without a known family history of glaucoma
  • Unaffected individuals with a known family history of glaucoma
  • Glaucoma suspects / Ocular Hypertensives
  • Glaucoma cases (diagnosed glaucoma)

Clinical uses

SightScore provides genetic risk information that may be useful for to assist a range of patient management decisions. It may be used in combination with a patient’s medical history, clinical risk factors and eye examination to consider:

  • The age for a patient’s first glaucoma check,
  • How often a patient should be monitored for glaucoma,
  • When a patient should be prioritized for investigation by an ophthalmologist,
  • Whether a patient is best monitored in optometry or ophthalmology,
  • Management strategy for a patient with glaucoma, including some treatment decisions; and
  • Whether blood relatives (parents, brothers/sisters, adult children) should be checked for glaucoma.

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

References

1. Craig, J et al., 2020. Multitrait Analysis of Glaucoma Identifies New Risk Loci and Enables Polygenic Prediction of Disease Susceptibility and Progression. Nature Genetics 52(2):160–66.

2. Siggs OM et al., 2022. Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma. JAMA Ophthalmol. 2023;141(1):73–77.

3. Marshall et al. 2023. “High Polygenic Risk Is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open-Angle Glaucoma.” Ophthalmology 130(8):830-836.

4. Marshall et al. 2022. “High Polygenic Risk Is Associated with Earlier Trabeculectomy in Patients with Primary Open-Angle Glaucoma.” Ophthalmology Glaucoma, 2023 Jan-Feb;6(1):54-57.

FAQs

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 hundreds or thousands 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 polygenic risk score for glaucoma.

SightScore is a polygenic risk score. It tests over 2,500 genetic variants spread across the genome. SightScore does not test for rare genetic variants, like Myocilin.

No. The SightScore test is only looks at a patient’s genetic risk of developing adult-onset primary open angle glaucoma (POAG). It does not test for angle closure glaucoma. It does not test for juvenile 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. 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.

SightScore is a personalised test which uses a person’s own DNA to assess their individual genetic risk of developing glaucoma. It is important to understand that SightScore does not replace an accurate family history. Instead, it provides useful information about whether someone is at higher or lower risk than would be expected from their family history alone.

You refer online. Please contact Seonix Bio at info@seonixbio.com and we will set you up with an account on our secure Seonix Clinician Portal. It’s easy to setup and referral is simple and fast.

You will receive your patient’s report in the secure Seonix Clinician Portal. You will also receive an email notification.

Your patients report will normally be available in 4-6 weeks in the Seonix Clinician Portal.