A new online continuing professional development (CPD) course, accredited by the Royal Australian and New Zealand College of Ophthalmologists (RANZCO), is asking ophthalmologists and other health care professionals to reflect on the rates of genetic diagnosis in their patients with inherited retinal diseases (IRDs).
The free one-hour course, developed in conjunction with A/Prof Tom Campbell (Coastal Eye Centre, QLD), Dr Jonathan Ruddle (The Royal Victorian Eye and Ear Hospital, VIC) and Dr Anagha Vaze (Eye Associates, NSW), outlines the clinical features of common IRDs before delving into the benefits of genetic diagnosis and Australian referral pathways.
A genetic diagnosis identifies causative mutations in 60–80% of patients and can guide treatment decisions, determine eligibility for gene-based therapies…
According to RANZCO guidelines, genetic diagnosis is now standard of care for patients with IRD. However, many patients diagnosed in the past may only have a clinical diagnosis and be unaware of the specific genetic cause of their IRD. A genetic diagnosis identifies causative mutations in 60–80% of patients and can guide treatment decisions, determine eligibility for gene-based therapies, clinical trials, registries and natural history studies.
Furthermore, genetic diagnoses have been shown to provide psychological closure for patients and help with family- and life-planning.
In addition to the one-hour online module, participants in the course have the option to enrol in a 6–12-month clinical audit in which they will be asked to review the history of IRD patients in their practice, identify patients who may only have a clinical diagnosis, and follow them up with an offer for referral for genetic diagnosis.
It is hoped that this module and audit will help reduce the number of IRD patients in Australia who are unaware of the cause of their IRD, potentially opening treatment pathways for some in the future.
Find out more and enrol in this IRD CPD activity to participate.
