Abstract
Background There are over 350 genetic eye conditions which can cause early onset vision loss in children and working age adults in the UK. Diagnostic genetic testing (DGT) enables patients the possibility of accessing reproductive options and participation in clinical research trials which use gene-targeted therapy. A few specialized ophthalmology genetics services (OGS) exist in the UK, employing models such as joint clinics or embedded genetic counsellors (GC); however, geographical coverage is limited. Regional genetics services also offer DGT; however, the current long waiting lists are causing significant delays to obtaining diagnoses. Mainstreaming genomic testing in ophthalmology is a desirable solution to overcome these limitations.
Methods Nottingham Clinical Genetics Service conducted a GMSA-funded local project with the aim of mainstreaming DGT in ophthalmology. We established a novel pathway involving use of orthoptists to provide DGT as a part of routine patient care. This included education and training, developing standard operating procedures, provisions to shadow GC clinics, setting-up regular multi-disciplinary team meetings and facilitating ongoing peer support.
Results Orthoptists proved to be an excellent choice of clinician because of their specialist knowledge and ability to accurately signpost patients to support services depending on their individual needs. The ongoing funding required for orthoptists to continue mainstream testing was costed at one day per week.
Conclusions Our pathway is a viable alternative to embedding GCs in a mainstream setting. This pathway could potentially reduce waiting time for patients, ensure equitable access of OGS and reduce pressures on regional genetics services waiting lists.
