Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic

Abstract

Background National and international reports recommend that genetic counselling should be made available to parents of children living with inherited rare diseases; and to patients themselves upon turning 16–18 years old. Long wait times of up to two years for genetic counselling through Children’s Health Ireland contributed to a lack of accessibility for adult patients with inherited metabolic disorders (IMDs). At the time of the study, the National Centre for Inherited Metabolic Disorders (NCIMD) Mater, which takes care of ~ 1400 adult patients with genetic disorders primarily affecting biochemical pathways, did not have direct access to a genetic counsellor. Objectives and methods An online survey was conducted to investigate the genetic testing and counselling experiences of adult patients with rare IMDs and their families within the Republic of Ireland. Results The NCIMD-Mater survey highlighted a lack of patient knowledge of and access to genetic counselling services; with some patients unaware of and others incorrectly understanding the role of genetic counselling. Most patients who underwent genetic testing were tested by a non-genetic healthcare professional. Satisfaction levels of genetic counselling services were mixed with some patients reporting delaying personal life and family plans due to wait times for genetic counselling. Conclusion 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.

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