For those surveyed who had undertaken genetic testing (64%), the disparity between going public and private was clear with private providers delivering the vast majority (75%) of results within three months, while almost one in five (18%) had to wait more than two years if availing of the public system.
A total of 111 people with rare diseases and family members took part in the survey via an online questionnaire during the month of October and the first week of November 20211. Almost six in ten (59%) of the respondents are living with a rare condition, with just over a third (34%) being parents or guardians of people with rare conditions.
The survey comes following almost two years of the nation’s health services dealing with the impact of COVID-19. While this has been clearly necessary to keep people safe, according to RDI, the time has now come to level the playing field across all conditions. Indeed, the Programmefor Government made a number of pledges in relation to rare diseases which have yet to see any action, including work on publishing an updated National Rare Diseases Plan, as well as commitments toestablish a National Genetics and
Genomics Medicine Network, as recommended in the Smith Report,2015, and to support the medical
genetics service in Children’s Health Ireland at Crumlin.
