An estimated 300,000 people in Ireland are affected by rare diseases, yet while most of these conditions are genetic in origin, clinical genetic services in Ireland are severely lacking, a major conference has been told.

A disease is considered to be rare if it affects fewer than one in 2,000 people. Four in five are thought to be genetic in origin. Currently in Ireland, around 6,000 rare diseases affect an estimated 300,000 people, however 80% of these people are affected by just 350 rare diseases.

Speaking at a conference to mark International Rare Disease Day, Philip Watt, chair of the Rare Disease Task Force, emphasised that the resourcing of clinical genetic services in this country ‘is fundamental to the diagnosis, care and treatment of people with rare diseases'.

However, clinical genetic staffing levels in Ireland are currently among the worst in Europe. In fact, in a survey of 14 European countries, Ireland ranked last in terms of the number of genetic consultants per head of population. Northern Ireland was ranked sixth in the same survey.

"Right now, my understanding is that there are several hundred families sitting on critically long genetics waiting lists for over 15 months in clear breach of HSE waiting times. We need to see information on waiting lists for genetic services being made publicly available so that we can put in place the appropriate resourcing of this crucial speciality," Mr Watt insisted.

He noted that without access to genetic services, diagnoses are ‘severely delayed' and this prevents access to appropriate ongoing referrals for the management and treatment of these conditions.

Also speaking at the conference, Avril Day, chair of the Genetic and Rare Disorders Organisation, said that it is clear that major progress is being made in relation to the development of new therapies and treatments, some of which will add years to patients' lives.

"Yet people living with rare and genetic diseases are being deprived and delayed access to existing and emerging life-saving and quality-of-life-enhancing medicines because they do not have a proper genetic diagnosis.

"In real terms, a delay in diagnosis means that a patient may go past the point where a treatment can be impactful for them and, if there is no genetic diagnosis at all, they are unaware of their treatment options," she commented.

She noted that details of ground-breaking research are constantly being released and this can bring great hope to sufferers and their loved ones.

"However, the rare disease community in Ireland is concerned that policy makers think genetic therapies and innovative medicines are something to be considered way off in the future. For Irish patients to be able to benefit when these advances begin to be made widely available, we need people with the proper skill sets to be incorporated as part of healthcare delivery now," she explained.

She welcomed the development of a Genetics and Genomics Strategy in Ireland, but pointed out that as this is linked to the development of the National Paediatric Hospital, the completion of which is some years away.

"We are concerned as to how long it will take to be implemented. Irish people need genetic testing, counselling and care now. We need answers soon from the next Government and not in the distant future. We cannot wait any longer," Ms Daly added.

Meanwhile, Dr Kevin Mitchell, a senior lecturer in genetics at Trinity College Dublin, told the conference that currently, a referral for genetic testing ‘comes at the end of a long and frustrating road for the patient and their family, and is usually made as a last resort'.

"The advances we are now seeing will place genetic testing at the front line of diagnostics - the question is how long are we prepared to wait for that to happen here. We know how important it is for patients and their families to have a diagnosis so that they can take the appropriate steps for their care, plan for the future, and so on.

"If the health service in Ireland is to keep pace with international developments and provide the best care for patients, the role of genetic services will have to be greatly expanded," he said.

The conference took place in Dublin Castle to mark International Rare Disease Day (February 29), an annual event which aims to raise awareness among the public and policy makers about the impact of rare diseases on patients' lives.

For more information on rare diseases, click here