Uncovering new insights with genetic testing
Genetic testing may give you and your patients more ANSWERS:
- Affirm the genetic cause of their vision loss or impairment
- Navigate new insights into how their vision may change over time and how the disease can impact their long-term plans
- See if they are eligible for emerging treatments
- Weigh the potential risks for other family members
- Educate about support groups and low-vision resources
- Reveal potential health impacts in other areas of their body
- Strengthen your doctor-patient relationship
The importance of retesting
To date, more than 300 inherited retinal disease–related genes have already been identified.[1] This gene identification, combined with advances in genetic testing, has increased the diagnostic yield for patients with inherited retinal diseases.[2][3]
Science is always advancing. As genetic testing options continue to advance, patients who do not know their underlying genetic diagnosis may benefit from retesting every 1-2 years, as outlined in the Guidelines on Clinical Assessment of Patients with Inherited Retinal Degenerations published by the American Academy of Ophthalmology (AAO) in 2022.[4] While a gene variant may have been classified to be “uncertain” a few years ago, that same variant may be reclassified as either benign or pathogenic today.[3][5]
Based on a UK study on 200 participants with a clinical diagnosis of inherited retinal disease, over 89.8% of patients would be likely/very likely to have a genetic test, if offered. In addition, 87% of participants felt that it should be offered only after the provision of information and genetic counselling.[6]
But did you know?
Genetic testing can help identify the genetic basis of the disease in 56–76% of patients with different forms of IRDs.[2]
Genetic testing can reveal more than just eye health
While your patient may clinically present with only ocular symptoms, a genetic test can reveal other serious conditions. Testing may uncover vision issues as well as systemic issues:[7]
- In most cases, an inherited retinal disease is limited to the eye, but over 80 forms of syndromic inherited retinal diseases have been found[7]
- Knowing what other conditions your patients are at risk for can help you refer them to the right specialists
Take action to confirm your patients’ inherited retinal diseases. Engage or re-engage appropriate patients with a genetic test.
Get an overview of the genetic testing process and learn the significance of partnering with a genetic counsellor.
Take a look at how science has advanced through the years.
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