Rare Diseases

A Resource for Primary Care Professionals

Rare DiseaseRare Disease2

This content has been developed by members of the National Centre for Medical Genetics (NCMG) and the National Children’s Research Centre (NCRC) as a guide for health practitioners, particularly general practitioners and midwives, in relation to common clinical genetic queries. It is hoped that the information contained herein will go some way towards bridging the information gap that exists in the context of these patient queries. The advice contained in this microsite has been developed and approved by clinical and laboratory-based experts on rare disorders and genetic testing.

The pages provide information and guidance on best practice with respect to genetic testing, including a range of FAQ style sections on what to do in response to common scenarios. Similarly, the handbook describes the role of the National Centre for Medical Genetics, and how the Centre can be of assistance to primary healthcare professionals and midwives.

We also describe options for practitioners and patients with regard to genetic counselling. In response to feedback from practitioners, we have included information on genetic testing for cystic fibrosis; an area that is particularly relevant since the introduction of the new-born screen programme in July 2011.

We see this site as an evolving resource, and we very much welcome feedback as to how it might be improved and developed.

We are extremely grateful to the project team and contributors who wrote, compiled and developed the various content areas. We are also indebted to our funders, the Health Research Board (HRB), who recognised the provision of this information to healthcare practitioners as a priority and supported the development of the project.

Handbook Download

Project Team

  • Dr Jillian Casey, Post-Doctoral Researcher, NCRC
  • Dr Sally Ann Lynch, Consultant Geneticist, NCMG
  • Ms Rosie O’Shea, Genetic Counsellor, NCMG & NCIMD
  • Ms Jacqueline Turner, Genetic Counsellor, NCMG
  • Dr Alana Ward, Genetic Counsellor, NCMG
  • Dr Mel McEvoy, General Practitioner, Dublin
  • Dr Peter O’ Keane, General Practitioner, Wicklow
  • Ms Jane Dalrymple, Clinical Midwife & Specialist in Fetal Medicine, Rotunda Hospital, Dublin
  • Dr Stephen Stewart, Consultant Gatroenterologist & Hepatologist, Mater Misericordiae University Hospital, Dublin
  • Ms Debby Lambert, Genetic Counsellor at National Centre for Medical Genetics and Temple Street Children’s University Hospital


This content has been developed by the Centre for Medical Genetics (NCMG) and the National Children’s Research Centre (NCRC), Dublin, Ireland. The Health Research Board is supporting the development of this content through their Knowledge Exchange and Dissemination Award which aims to maximise the uptake of research findings into policy and/or practice (grant MRCG/2011/17/K).

This project is supported by:



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