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 o...

Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families t...