Seonix Bio announced the U.S. launch of the first commercially available clinical polygenic risk score (PRS) for primary open-angle glaucoma (POAG): SightScore.
First up: Seonix.
The San Diego, California-based genetic testing company was launched in 2019.
Its purpose: To protect vision through genetic risk protection—with a specific focus on identifying patients at risk for glaucoma to enable earlier diagnoses.
- How it’s doing that: Via this newly-launched PRS tool.
Explain the science behind this.
The PRS test was developed based on genome wide association (GWA) studies from +400,000 patients—and has undergone advancements and validation in a range of clinical cohorts, according to Senoix.
The company noted that the test is also linked with risk outcomes such as:
- Glaucoma risk
- Age of glaucoma onset
- Need for treatment initiation among treatment naïve glaucoma suspects and ocular hypertensives
- Need for treatment escalation or incisional surgery in glaucoma cases
- Increased number of family members diagnosed with glaucoma
Let’s talk about this tool.
SightScore is a saliva test that identifies patients at high risk for developing glaucoma.
How it does this: By analyzing “millions of genetic variants in the patient’s genome to create a personalized (PRS) for glaucoma,” according to Seonix.
- Specifically: The test gauges the genetic risk of a patient for either developing the disease in the future or—if they’ve already been diagnosed—the risk that their disease will worsen over time.
Zero in on these patients. Who qualifies for the test?
Four patient populations are targeted:
- Unaffected patients:
- Without a family history of glaucoma
- With a family history of glaucoma
- Glaucoma suspects / ocular hypertensives
- Diagnosed glaucoma cases
Got it. Now explain this testing process.
The entire testing process involves four steps:
- An eyecare professional (ECP) refers a patient online for the SightScore—after which the patient has their saliva collected
- This referral is done through the Senoix Clinician Portal
- The saliva is then sent to a lab for DNA analysis
- A genetic risk calculation is conducted on the saliva
- Specifically: The clinical PRS test
- After analyses and calculations, the clinical report is accessible via the portal
And the intent behind all of this?
Ideally: For clinicians to utilize this test not just to identify these at-risk patients but also to enable them to be appropriately prioritized, managed, and set up with a more personalized treatment.
Further, SightScore may also “be used in combination with a patient’s medical history, clinical risk factors (as we already highlighted), and eye examinations” to consider other patient management decisions.
Has the test been clinically validated yet?
It has! The SightScore approach was utilized in two clinical studies published in Nature Genetics and JAMA Ophthalmology in 2020 and 2021, respectively.
The crux of those findings:
- For the 2020 research: The PRS was determined to be predictive of six key glaucoma-related factors (see them here) and have “good predictive power across a range of clinical cohorts.”
- The conclusion: The PRS would enable the development of a personalized approach for earlier treatment of high-risk glaucoma patients, with less intensive monitoring and treatment possible for lower-risk groups.
- And the 2021 research: When comparing polygenic variants (PRS) to monogenic variants in the risk of glaucoma, each were associated with a more than 2.5-fold increased odds of developing glaucoma and an equivalent mean age at glaucoma diagnosis.
- However: A high polygenic risk was found to be > 15 times more common in the general population.
So how can ECPs get started with referring patients for this test?
Contact the company to get set up with a Seonix Clinician Portal account.
Once online, refer away!
To note: This PRS test is currently available for use in the United States, Australia, and New Zealand.