Crisis in genetics services

11 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, kathy@grdo.ie