Genetics counsellors in inherited retinal disease clinics
Reviewed by Ian Reekie

This is a questionnaire-based study from the USA of genetics counsellors with a primary role working within ophthalmology services. The purpose was to investigate the roles currently undertaken, to assess workload, and to acquire data on the experience of genetics counsellors working in ophthalmology clinics. Previous data indicates that of approximately 5000 genetics counsellors working in the USA, 93 have reported a role working with ophthalmology, and 19 reported this was their primary role. Nine of these genetics counsellors responded to the survey, and all nine reported that the primary indication for them seeing patients was inherited retinal diseases. Seven of nine respondents reported either that the clinic they work in currently needs additional genetics counsellor support, or they anticipate it will do in the future. Interestingly, three of the nine respondents reported no specific training or experience connected to ophthalmology prior to their current position. This is a small study, and given the different working practices it may not be directly relevant to UK experience. However, it is likely that we will begin to see a considerable expansion in workload related to genetic conditions in ophthalmology. The first gene therapies for inherited retinal diseases are already in clinical use in the NHS, and undoubtedly more will follow. An expansion of services to meet demand will include a need for more genetics counsellors, who would no doubt benefit from some ophthalmology specific training to supplement their skill set.

The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment.
Alabek M, Andersen K, Everett L, Marra M.
OPHTHALMIC GENETICS
2023;44(6):553–8.