#WorldSightDay: Fighting Blindness Calls for Urgent Funding of Clinical Genetic Services for People with Inherited Retinal Conditions

Co-developer of robotic system that will potentially revolutionise eye surgery to speak at RETINA 2017 conference –

Latest figures show ophthalmology almost tops in-patient/day case national waiting list, while ophthalmology out-patient waiting list increases 21% in 12 months –

Date of issue: Wednesday October 11 2017
On World Sight Day on Thursday October 12, and RETINA 2017, a three-day international gathering of eye research experts, supported by Novartis, taking place in Dublin, Fighting Blindness has urged the Government to prioritise the funding of clinical genetic services, including Clinical Consultant Geneticists and Genetic Counsellors, for people with inherited retinal conditions. Such funding is fundamental to the diagnosis, care and treatment of the estimated 5,000 people living with genetic sight loss in Ireland.

The call comes against a backdrop of Ireland having amongst the lowest numbers of genetic staff per 100,000 population in Europe1. As a result, current waiting lists for clinical genetic services in Ireland stretch up to 18 months and longer, meaning families affected by genetic sight loss are unable to access timely diagnosis, treatment and counselling. The lack of investment in ophthalmology services is also exemplified in latest figures from the National Treatment Purchase Fund which show that:

  • ophthalmology had the second highest in-patient/day case waiting list at 12,025 at the end of September, with one in five patients (21%) waiting more than a year2
  • ophthalmology out-patient waiting list numbers climbed 21% from 31,4973 to 38,094 in the 12-month period to end September, with almost one in three (32%) waiting more than a year4

There are an estimated 225,000 people living with low vision and sight loss in Ireland, including approximately 13,000 blind people. These figures are projected to increase to 272,000 and 18,000 respectively by 2020.5

“Woefully Inadequate”
Kevin Whelan, Fighting Blindness CEO, said huge advances are being made in developing new gene therapies. However, for patients with inherited retinal disease to benefit, they need a precise genetic diagnosis and, most vital of all, access to genetic services:
“According to latest figures, Ireland is ranked amongst the lowest in Europe for the number of genetic staff per population of 100,000. Current recommendations indicate a minimum of three Consultant Geneticists per million and one full-time Genetic Counsellor per 100,000 population. Based on population, the Republic of Ireland should have 14 Consultant Geneticists and 46 Genetic Counsellors.6 With just 6 clinical geneticists and 8.3 genetic counsellors working in the State, staffing levels are woefully inadequate for our needs.

“We estimate that there are 5,000 people in Ireland affected by inherited retinal conditions who 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.

“Fighting Blindness is working to ensure as many people as possible receive an accurate genetic diagnosis through its Target 5,000 programme. However, it is vital that when people do receive a diagnosis they also have access to a genetic counsellor who can provide information and advise on possible next steps. The Government has a responsibility to protect vulnerable people and we would urge it to act in this instance by prioritising the funding of clinical genetic services.”

Injection Treatment Delays
Dr David Keegan, Consultant Ophthalmic Surgeon and member of the board of Fighting Blindness, is highlighting how some patients are losing sight due to delays in accessing injection treatments:
“We, at Fighting Blindness, are increasingly concerned about the reported delays in patients with age-related macular degeneration and other retinal disease 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 per cent more likely to have irreversible sight loss. Investment in the delivery of these services across the country is imperative and needs to start now. This is vital if we are to achieve the World Health Organisation Vision 2020 goal of eliminating the main causes of all preventable and treatable blindness by the year 2020.”

Robotic Surgery at RETINA 2017
Now in its 18th year, Fighting Blindness’ Retina 2017 conference sees speakers gather in Dublin from countries across the globe, from the United States and Canada, to Switzerland and Italy, to the United Kingdom and Ireland. With more than 400 delegates in attendance, the conference offers a key opportunity for researchers to develop collaborations and ignite the next generation of vision research.

Among the high-profile speakers in attendance will be Prof Marc de Smet, Medical Director of Preceyes Medical Robotics in The Netherlands, and co-developer of a robotic system that has the potential to revolutionise eye surgery:
“Eye surgery demands a high level of skill and we have pretty much reached a limit as to what we can currently do unassisted. However, last year, we had a major breakthrough when we used robot-assisted surgery for the first time on the human eye. The key advantage is the high levels of precision for very delicate surgery and, where even the most highly-skilled surgeon can have micro tremors in his or her hands, our PRECEYES Surgical System is completely steady. The results, we have found, have been significantly fewer haemorrhages, and less trauma and damage to the retina. We anticipate that procedures currently off-limits will now be feasible, such as facilitating the delivery of gene therapy to the retina. Our aim is to have a CE mark by the end of 2018, with equipment potentially available to general ophthalmic hospitals from 2019.”

Loretto Callaghan, Managing Director of Novartis Ireland, which supports the organisation of the conference, explains the significance of the event:
“We at Novartis are delighted to support Retina 2017. I would like to congratulate Fighting Blindness on developing this meeting, which is now a three-day internationally-renowned conference, which uniquely caters for scientists, clinicians and the wider public. As a research-focused company ourselves, we at Novartis are very proud to partner with Fighting Blindness on Retina 2017 and to continue to build on this excellent meeting.”

As part of the RETINA 2017 conference, a public engagement day will take place on Saturday October 14, offering an opportunity for people affected by sight loss to ask questions of leading eye experts about the cutting-edge research, clinical trials and treatments underway. The day will be of particular interest to people with rare conditions such as retinitis pigmentosa, Usher syndrome, Stargardt disease, as well as the more common conditions of diabetic retinopathy, age-related macular degeneration and other retinal degenerations. People interested in registering for the public engagement day, can do so by phoning 01 678 9004, emailing research@fightingblindness.ie or visiting www.retina.ie

Key statistics7 at a glance:

  • Each individual eye disease leads to a significant reduction in well-being and is equivalent to 702,000 workdays lost per year or 2.1 million healthy days lost per annum
  • In Ireland, eye disease results in an annual economic cost of €224 million with an additional €190 million added on for the annual cost of blindness
  • By 2020 it is forecast that vision impairment and blindness will cost the exchequer in excess of €2.5 billion

ENDS

Issued on behalf of Fighting Blindness by: Don Delaney, director, d2 communications, tel.: 01 910 8987 / 087 7933249 or email: don@d2communications.ie

References

1 http://www.genetics.ie/clinical/inadequate-staffing-levels/

2 http://www.ntpf.ie/home/pdf//2017/09/nationalnumbers/in-patient/National02.pdf

3 http://www.ntpf.ie/home/pdf//2016/09/nationalnumbers/out-patient/National02.pdf

4 http://www.ntpf.ie/home/pdf//2017/09/nationalnumbers/out-patient/National02.pdf

5 http://www.hse.ie/eng/services/publications/Primary/Eye-Services-Review-Group-Report.pdf

6 http://www.genetics.ie/clinical/inadequate-staffing-levels/

7 The Economic Cost and Burden of Eye Disease and Preventable Blindness (2014) & Framework to Adopt a Strategic Approach for Vision Health in Ireland (2012) 

About Fighting Blindness
Fighting Blindness is an Irish patient-led charity working to cure blindness, support people experiencing sight loss and empower patients. It does this by:

  • Funding and enabling world-leading research into treatments and cures for blindness. Since 1983, Fighting Blindness has invested over €17 million in more than 90 research projects, with a particular focus on genes and gene therapy, cell technology and regenerative medicine, retinal implant technology, novel drug therapy and population studies
  • Providing professional counselling through its Insight Counselling Service for people and families affected by sight loss
  • Undertaking extensive activity in the area of advocacy and patient empowerment, and, specifically, for equitable access to existing treatments, novel therapies and appropriate care