Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

ABSTRACT: 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 trying to access genetic testing and clinical genetic clinics in the Irish Republic. Irish patients experience significant waiting times to access clinical genetic services and self-report anxiety and stress, related to delayed access to diagnosis, clarity around recurrence risk and follow-up management. This negatively impacts personal decisions around family planning

SUBMITTER: Ward AJ 

PROVIDER: S-EPMC10725380 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature