Ward A J, Lambert D M, Butterly D, O'Byrne J J, McGrath V, Lynch S A
University College Dublin, School of Medicine, Dublin, Ireland.
Mater Misericordiae University Hospital, National Centre for Inherited Metabolic Disorders, Dublin, Ireland.
J Community Genet. 2023 Dec;14(6):583-592. doi: 10.1007/s12687-023-00664-w. Epub 2023 Aug 26.
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, education and employment and has a significant impact on family members seeking clarity on their own risk. Mainstream genetic testing activity is significant. Families report concern over the competency of health care professionals arranging and delivering genetic results and delays in accessing clinical genetics expertise to take them through the clinical implications. Timely access to clinical genetics expertise is important to ensure families with rare diseases have an appropriate understanding of the medical and reproductive implications of a genetic diagnosis and access to relevant care pathways. A national framework to develop competency in genomic literacy for health-care professionals including a national genetic test directory may be beneficial. Clinical genetics teams require ongoing support and investment to ensure the delivery of a safe and effective service for Irish families with rare diseases.
爱尔兰卫生服务目标指出，罕见病患者应能及时获得基因诊断，并在检测前和检测后得到适当的咨询。然而，在研究期间，由于人员配备水平仍然较低，临床遗传学门诊预约的等待时间长达两年。2022年1月进行了一项有针对性的在线公众调查，以了解爱尔兰共和国罕见病家庭在尝试进行基因检测和前往临床遗传学诊所时的经历。爱尔兰患者在获得临床遗传学服务方面经历了漫长的等待时间，他们自述因诊断延迟、复发风险不明确以及后续管理问题而感到焦虑和压力。这对围绕计划生育、教育和就业的个人决策产生了负面影响，并且对寻求自身风险明确信息的家庭成员产生了重大影响。主流基因检测活动规模较大。家庭报告称，他们担心安排和提供基因检测结果的医护人员的能力，以及在获取临床遗传学专业知识以了解检测结果的临床意义方面存在延迟。及时获得临床遗传学专业知识对于确保罕见病家庭正确理解基因诊断的医学和生殖影响以及获得相关护理途径非常重要。制定针对医护人员的基因组知识能力的国家框架，包括国家基因检测目录，可能会有所帮助。临床遗传学团队需要持续的支持和投入，以确保为爱尔兰的罕见病家庭提供安全有效的服务。
