1,400 at risk of inherited diseases on waiting lists

MORE than 1,400 people who need to find out if they have inherited a disease that runs in their family are on a waiting list to see a genetic consultant.

About 250 are waiting for more than 18 months, a conference to mark International Rare Disease Day was told.

There are around 6,000 rare diseases identified worldwide with up to 300,000 child and adult sufferers in Ireland.

Around 70pc to 80pc of the diseases are genetic and 30pc of children with rare conditions die before their 50th birthday.

Avril Daly, vicepresident of Rare Diseases Europe said genetic services continue to be under-resourced.

“We simply mean the right of patients to access a diagnosis that will lead to the appropriate care pathway and treatment option,” she said.

Published waiting lists for genetic services do not include those awaiting access to a genetic counsellor to interpret diagnosis. This brings the number to around 2,250.