Genetic Testing

Genetic Testing (GT) experiences for people living with Inherited Retinal Degenerations (IRDs) have been revealed in a recently published study. Here are the key takeaways:

1. People with IRDs face significant challenges in obtaining a genetic diagnosis, and the journey can be lengthy and frustrating
2. There is an urgent need for increased training, availability of genetic counsellors, and ongoing education for eye care professionals on the benefits of genetic testing for IRDs.

The study over 400 people from 30 countries and highlighted important insights:

• One in three had to visit 5 or more clinicians and over 50% had to visit 3 or more clinics to obtain GT.
• One in two people had to wait over 3 years to obtain GT from the first awareness of their vision problem
• Almost half did not receive genetic counselling before GT, and one in three did not receive it after.

  The study emphasizes the need for improved access, timeliness, affordability, and awareness surrounding genetic testing and counselling for IRDs.

To Read Full Text – Please Click Here