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Rare disease day - feb 29th 2016 - Eilish Hardiman
1. Rare Diseases Day
National Genomic Network
EILÍSH HARDIMAN
GROUP CHIEF EXECUTIVE
CHILDREN’S HOSPITAL GROUP
29TH FEB 2016
2. Current Model of Service Delivery
Department of Clinical Genetics at Our Lady’s Children's Hospital,
Crumlin – (Paeds and adults)
Clinics – Genetic Consultants and Genetic Counsellors
Clinics held in other hospitals – same consultant workforce
Genetic testing Laboratories at OLCHC (Paeds and adults)
Molecular genetics
Cyto-genetics
Distribution of test to labs outside Ireland
Specialist Genetics posts – e.g. cancer
Underfunded and re-structured to reflect contemporary service
National Genetic Medicine Network required
3. Key Factors to
change model
of service
delivery
TECHNOLOGY & TESTING
NETWORKED SERVICE
DELIVERY
USER ADVOCACY
ELECTRONIC HEALTHCARE
RECORD
HEALTHCARE EDUCATION
MAINSTREAMING GENETICS
INTO MEDICINE
MULTI-DISCIPLINARY TEAMS
4. Key Juncture
• National Genomic
Medicine Network
• Structured as a
network across health
service and academia
• National model for
genetic testing,
balancing internal and
external testing routes.
5. Key Juncture
• Multidisciplinary team
– foci of genetic
knowledge
• Rare Diseases Office
– direction to access
services, internal and
external to Ireland
• ICT to support
networked service
delivery and research