Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic
This study highlights deficiencies in the genetic testing and counselling experience of Irish IMD patients. Embedding genetic counselling into multidisciplinary IMD teams would increase access to genetics education for patients and families and improve the clinical service. This study may be utilized to measure the impact of integrating genetic counsellors into NCIMD-Mater.
Authors
- James J. O’Byrne (ORCID: https://orcid.org/0000-0003-3162-2411)
- Vicky McGrath
- C Arnott
- Sally Ann Lynch (ORCID: https://orcid.org/0000-0003-3540-1333)
- Deborah M. Lambert (ORCID: https://orcid.org/0000-0003-0967-0476)
- David W. Butterly
- Ward Aj
Institutions
- University College Dublin (IE)
- Trinity College Dublin (IE)
- Mater Misericordiae University Hospital (IE)
- Children's Health Ireland at Crumlin (IE)
Publication Details
- Journal
- Journal of Community Genetics
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1007/s12687-025-00791-6
- Citations
- 1
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- University College Dublin