Genetic testing: an essential topic for discussion with the IRD communtiy

Posted on: Thursday 13 February 2020



As Luxturna reaches the clinic and other gene-specific therapies for inherited retinal disease get closer to the end of the development pipeline, it is becoming ever more important that affected families can access a genetic diagnosis, potentially opening up choices around treatment and clinical trial participation.

However, for the vast majority of IRD genes, disease-modifying treatments are some way off. How is a genetic test result helpful in these cases? In their paper published in Genetics in Medicine at the end of last year (see link below), Panos Sergouniotis, Graeme Black and colleagues at Manchester University have provided clear evidence of wider benefits to clinical management.

The team investigated outcome of genetic testing in 201 preschool children with inherited eye disorders, including 59 with retinal disease. Overall, testing was remarkably impactful: it provided a definitive diagnosis in 2 out of 3 cases (diagnostic yield in IRD was 78%), and led to changes in clinical management in one third of children studied. Of particular note in the IRD cohort was the identification of potential syndromic disorders in children previously diagnosed with retinal disease only, instigating ongoing monitoring for the appearance of non-ophthalmic symptoms. For several families, there was also clarification of prognosis, with some tests revealing that the child’s disorder was stationary rather than progressive.

The 2019 community survey conducted by Retina UK revealed that a significant number of families are either unaware of the availability of genetic testing or struggle to access it. This year, we will be working hard on an information campaign aiming to increase understanding of the benefits of testing and empower families to access the choices it provides. We would be very grateful for the support of our professional community in sharing our new printed and digital materials. Watch this space for more information.

Read the full article: https://www.nature.com/articles/s41436-019-0722-8