Over 1,400 children were waiting to see a genetic consultant at the end of January, a major conference has been told.
Delegates were warned that there is currently a serious lack of funding for genetic services, which is only adding to waiting lists.
The issues was highlighted at an all-island conference in Dublin to mark International Rare Disease Day (February 28). An estimated 6,000 rare diseases exist worldwide and these affect 6-8% of people in Ireland - around 300,000 children and adults. Up to 80% of rare diseases are genetic.
Many rare diseases appear in childhood and the conference was told that at the end of January, there were 1,412 patients on outpatient waiting lists to see genetic consultants at Our Lady's Children's Hospital Crumlin and Temple Street Children's University Hospital.
Some 225 of these had already been waiting for more than 18 months.
"Waiting lists for clinical genetic services in Ireland are growing, delaying many families from accessing diagnosis, counselling and treatment. This is taking place against a backdrop of a major review of clinical genetic services having been undertaken two years ago, but which remains unpublished. Indeed, there is scarcely mention of clinical genetic services in the HSE service plan for 2017," noted Philip Watt, chairperson of the Medical Research Charities Group (MRCG).
He pointed out that while a National Rare Disease Office was established 18 months ago to address things such as rare disease information and patient registries, ‘it has not been afforded nearly the necessary funding and resources to do its job effectively'.
"The Government and HSE need to prioritise this service as a matter of urgency," Mr Watt insisted.
Meanwhile, according to Avril Daly, vice-president of EURORDIS (Rare Diseases Europe) and chairperson of Genetic and Rare Disease Ireland (GRDO), waiting lists could be even worse than they appear.
"When we refer to genetic services, we simply mean the right of patients to access a diagnosis that will lead to the appropriate care pathway and treatment option. We believe the published waiting lists for genetic services do not include those individuals awaiting access to a genetic counsellor.
"To be clear, it is the genetic counsellor that interprets diagnosis and the impact it can have to an individual or family. When taken together, the figures for those waiting to see a genetic counsellor and consultant are closer to 2,250," she noted.
She said that an insufficient number of consultants and counsellors ‘is jeopardising access to life-saving and life-changing care and treatment for patients, as well as delaying decisions on family planning'.
"We are now entering year three of a four-year ambitious National Rare Disease Plan. We are calling on the Government to ensure that it puts the necessary funding and resources required behind its 48 recommendations so that it leaves a lasting legacy in the timeframe set out that will make a real difference to people with rare diseases and their families," Ms Daly added.
The conference was organised by the MRCG, the Irish Platform for Patient Organisations Science and Industry (IPPOSI), the Genetic and Rare Disorders Organisation and the Nothern Ireland Rare Disease Partnership.
(*Pictured is Mark Pollack - adventurer, author and patient advocate)
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