The service for medical genetics in Our Lady’s Children’s Hospital, Crumlin (OLCHC) provides services for patients and families in Ireland affected by, or at risk of, a genetic disorder. It comprises of three integrated units: a clinical genetics service; a cytogenetics laboratory and a molecular genetics laboratory. The service is under the governance of OLCHC, which has recently made a decision to discontinue the separate identification of the service as the National Centre for Medical Genetics, in the interest of clarity on governance arrangements. I am assured that there has been no reduction in the scope of the services provided.
There have been rapid and progressive developments in genetics and genomic medicine over the past five years, and it is well recognised as one area of medicine that will continue to rapidly develop over coming years. A review of the service at Crumlin, commissioned by the HSE was submitted in May this year. This report made a number of recommendations on both internal and national service issues, which will be addressed by the HSE in conjunction with OLCHC / the Children's Hospital Group. The report included a recommendation that a working group should be established, to develop a National Genetic and Genomic Medicine Network that reflects best international practice. Any concerns on the network of services will be addressed by this group's work.
The National Rare Disease Plan recognised that the timely diagnosis of rare diseases is essential. Effective genetic services have a role to play in diagnosing rare diseases; and it was in this context that the plan referred to the work of the NCMG at Our Lady's Children's Hospital, Crumlin. A National Clinical Programme for Rare Diseases has been established in the HSE. A Clinical Lead for this programme has also been appointed. This clinical programme will ultimately be a channel for advancing and implementing recommendations in the plan, such as those on National Centres of Expertise for rare diseases.