Sunday 21 January 2018

15-month waiting list for rare disease screening

Clinical genetic staffing levels are very low.
Clinical genetic staffing levels are very low.

Hundreds of people who want to be tested to find out if they carry genes which put them at risk of developing a rare disease are waiting 15 or more months for screening.

The issue was highlighted at the conference to mark International Rare Disease Day. It is estimated that there are over 6,000 rare diseases in existence in Ireland affecting some 300,000 children and adults.

Approximately 80pc of these patients are affected by just 350 rare diseases.

Philip Watt, Chair of the Rare Disease Task Force said services providing genetic tests are under-funded.

It means that people who want to be tested for genes which could predispose them to disease face lengthy waits.

He said: "The National Rare Disease Plan was launched in July 2014, yet almost two years on, many of its recommendations remain to be implemented.

"The resourcing of clinical genetics services in Ireland is fundamental to the diagnosis, care and treatment of people with rare diseases.

"Current clinical genetics staffing levels are among the worst in Europe and between 70-80pc below those recommended by the Royal College of Physicians in London. By way of stark illustration, in a survey of 14 European countries, Ireland came last in terms of the number of genetic consultants per head of population, while Northern Ireland was ranked in sixth place.

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