Crisis in genetics services11 June 2012 - The provision of adequate medical genetics services is vital to the implementation of any national rare disease strategy. Around 80% of rare diseases are genetic in origin. This can mean that members of a family may be at risk of the same rare disease, or at risk of passing the rare disease on to any children they have.
There is increasing concern in the rare disease community about the state of medical genetics services in Ireland. GRDO frequently hears from members of excessively long waiting times (more than one year) for specialist assessment, including genetic counselling. Testing for many rare conditions is simply not provided in Ireland.
The National Centre for Medical Genetics (NMCG), based at Our Lady’s Children’s Hospital, Crumlin, seeks to provide a comprehensive service for all patients and families in the Republic of Ireland affected by or at risk of a genetic disorder.
Unfortunately, however, the NCMG simply does not have the resources to do so. It is currently 80% below the UK Royal College of Physicians recommended staffing levels. It cannot meet the required model of care to people affected by rare diseases due to insufficient geneticist and genetic counsellor: patient ratios. There are also insufficient administration and laboratory staff, and no specific disease registries. Although the NCMG labs are accredited and produce results of the highest quality, the scope of the service is restricted and reporting times do not meet international standards. At the moment there is no training programme for Clinical Geneticists or for Genetic Counsellors.
Promoting the development of medical genetics services in Ireland is a key objective for GRDO and we appeal to all the in rare disease community to voice their concerns on this topic. Anyone affected by a rare disease who has direct experience of the negative impact of inadequate medical genetics services is welcome to get in touch by email with Kathy Tynan, firstname.lastname@example.org
Latest GRDO news11 June Consultation Day on National Rare Disease Plan, 30 April 2012 - click here
GRDO Chair Avril Daly elected Vice President of EURORDIS, 29 May 2012 - click here
6th European Conference on Rare Diseases and Orphan Products, 23-25 May 2012 - click here
Consultation Day on National Rare Disease Plan Monday 11 June, 29 April 2012 - for details email email@example.com.
HRB hosts workshop on rare disease research in Ireland, 26 March 2012 - click here
GRDO welcomes commitment to develop clinical care programme for rare diseases, 7 March 2012 - click here
Seanad debate on rare disease, 7 March 2012 - click here
GRDO addresses Joint Oireachtas Committee, 29 February 2012 - view here
GRDO survey highlights need for National Rare Disease Office, 28 February 2012 - click here
Promotional video for Rare Disease Day 2012 launched, 13 February 2012, featuring six people with rare conditions in Ireland - click here
Newsletter 2011-2012 - click here
Newsletter 2010 - click here
Newsletter 2009 - click here
Newsletter 2008 - click here