People affected by genetic sight loss in Ireland are unable to access timely diagnosis, treatment and counselling, a leading charity has warned.
Currently in Ireland, there are around 225,000 people living with low vision or sight loss. As estimated 5,000 of these cases are genetic, in other words, they are inherited retinal conditions.
According to the charity, Fighting Blindness, Ireland currently has one of the lowest numbers of genetic staff per 100,000 of the population in Europe. As a result, waiting lists for clinical genetic services can be up to 18 months, and in some cases, even longer.
This lack of investment is clearly seen in ophthalmology waiting lists. At the end of September, there were over 12,000 people waiting for inpatient or day treatment, with 21% of these already waiting at least one year.
A further 38,000 people were waiting for an outpatient appointment, with 32% of these waiting at least one year.
The charity is urging the Government to prioritise the funding of clinical genetic services.
“Current recommendations indicate a minimum of three consultant geneticists per million and one full-time genetic counsellor per 100,000 population. Based on this, the Republic of Ireland should have 14 consultant geneticists and 46 genetic counsellors. With just six clinical geneticists and 8 genetic counsellors working in the State, staffing levels are woefully inadequate for our needs,” explained Fighting Blindness CEO, Kevin Whelan.
He noted that inherited retinal conditions ‘represent some of the most genetically complex of all rare diseases’.
“It is vital that we know the specific genes causing people’s sight loss as there is tremendous progress being made in developing many promising gene-specific therapies that could dramatically change people’s vision loss situations. However, without a precise diagnosis of the underlying gene mutation, people with inherited retinal conditions will lose out,” Mr Whelan said.
The charity is working to ensure as many people as possible receive an accurate genetic diagnosis, through its ‘Target 5,000′ programme. However, it emphasised that when a person is diagnosed, they should then have access to a genetic counsellor, who can provide information and support.
Speaking about this issue, consultant ophthalmic surgeon and Fighting Blindness board member, Dr David Keegan, expressed concern about the delays in diagnosis and treatment.
“We are increasingly concerned about the reported delays in patients with age-related macular degeneration and other retinal diseases accessing sight-saving injection treatment in our major centres in Ireland.
“In line with best practice, it is crucial that these patients receive treatment within a two-week period, however, a substantial number of patients are not meeting this timeframe. For those patients whose injection treatments are delayed beyond three months, they are nearly 70% more likely to have irreversible sight loss,” he explained.
He said that investment in the delivery of these services nationwide ‘is imperative and needs to start now’.
Fighting Blindness highlighted this issue to coincide with World Sight Day (October 12) and RETINA 2017, a three-day international gathering of eye research experts that is taking place in Dublin from October 12-14.
For more information on Fighting Blindness, click here