Press Release Rare Disease Day – Retina International

Retina International Genetic Testing Landscape Study: Fact Sheet

A genetic diagnosis is a prerequisite for IRD patients to be considered for inclusion in research and clinical trials. Genetic testing and counselling can lead to greater understanding by the patient of inheritance patterns and disease progression associated with their gene.

Importance of Genetic Testing

• Provides an accurate diagnosis
• Determines potential treatment options or involvement in clinical trials
• Informs patients about the potential risk of disease to other family members
• Identifies the potential risk to other organs that may be affected
• Children and infants can benefit from early diagnosis and intervention

Genetic Testing Workflow

• Routine check-up/Symptoms
• Clinical evaluation by Optometrist/Ophthalmologist (IRD suspected)
• Patient referred to Retina Specialist (Clinical examination suggests IRD)
• Patient referred to Genetic Counselling and Testing
• Patient agrees to genetic testing

The outcome of genetic testing leads to three pathways. 

Pathway 1 – Detection of pathogenic or likely pathogenic variant gene. Patient is referred to genetic counselling, will be offered clinical management, family members are asked to be tested, and patient’s suitability for available clinical trials is determined.

Pathway 2 – Detection of variant of uncertain significance. Re-testing is considered, testing of family members is considered.

Pathway 3 – No variants or benign variants detected. This is either due to no genetic disease present or non-identification of a genetic cause.      

For pathways 2 and 3 – Patients are clinically managed based on current guidelines. Periodic check-in with expert provider and retesting (if new test/treatments emerge) is recommended.

A genetic diagnosis is a prerequisite for IRD patients to be considered for inclusion in research and clinical trials. Genetic testing and counselling also lead to greater understanding by the patient of inheritance patterns and disease progression associated with their gene. RI’s Genetic Testing Landscape study shows that a best practice model on access to genetic testing and counselling services for IRDs is needed urgently.

*These are the preliminary findings from the RI Global Genetic Testing Landscape Study carried out in 2021.

Roadblocks to Genetic Testing

36% of eyecare professionals were either not aware of genetic testing for IRDs, remained neutral on patients going through the process, or did not encourage it.

Long and Difficult Process

• 5 % of respondents had to visit more than five physicians before receiving a genetic test.
• 56 % of respondents waited more than three years for a genetic diagnosis
• 42 % of respondents did not receive genetic counselling prior to genetic testing
• 34 % of respondents did not receive genetic counselling after receiving a genetic test
• Over 70% of the respondents said that there is inadequate awareness about the benefits of genetic testing for IRDs among health care professionals.
• Almost 90% of respondents said that genetic testing was worth it.