{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T22:19:37Z","timestamp":1793312377766,"version":"4.5.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Irish Society of Human Genetics","award":["2024 Summer Research Studentship"],"award-info":[{"award-number":["2024 Summer Research Studentship"]}]},{"name":"Adelaide Health Foundation","award":["R22808"],"award-info":[{"award-number":["R22808"]}]},{"name":"Adelaide Health Foundation","award":["R22808"],"award-info":[{"award-number":["R22808"]}]},{"name":"Adelaide Health Foundation","award":["R22808"],"award-info":[{"award-number":["R22808"]}]},{"name":"Adelaide Health Foundation","award":["R22808"],"award-info":[{"award-number":["R22808"]}]},{"name":"Adelaide Health Foundation","award":["R22808"],"award-info":[{"award-number":["R22808"]}]},{"name":"Adelaide Health Foundation","award":["R22808"],"award-info":[{"award-number":["R22808"]}]},{"DOI":"10.13039\/501100001631","name":"University College Dublin","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001631","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>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\u201318\u00a0years old. Long wait times of up to two years for genetic counselling through Children\u2019s 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\u2009~\u20091400 adult patients with genetic disorders primarily affecting biochemical pathways, did not have direct access to a genetic counsellor.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Objectives and methods<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s12687-025-00791-6","type":"journal-article","created":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T09:41:32Z","timestamp":1743759692000},"page":"529-538","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic"],"prefix":"10.1007","volume":"16","author":[{"given":"Arnott","family":"C","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6486-0421","authenticated-orcid":false,"given":"Ward","family":"AJ","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0967-0476","authenticated-orcid":false,"given":"Lambert","family":"DM","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Butterly","family":"D","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"McGrath","family":"V","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3540-1333","authenticated-orcid":false,"given":"Lynch","family":"SA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3162-2411","authenticated-orcid":false,"given":"O.\u2019Byrne","family":"JJ","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,2]]},"reference":[{"issue":"3","key":"791_CR1","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/s10897-006-9020-0","volume":"15","author":"DJ Abrams","year":"2006","unstructured":"Abrams DJ, Geier MR (2006) A comparison of patient satisfaction with telehealth and on-site consultations: A pilot study for prenatal genetic counseling. J Genet Couns 15(3):199\u2013205. https:\/\/doi.org\/10.1007\/s10897-006-9020-0","journal-title":"J Genet Couns"},{"issue":"9","key":"791_CR2","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1038\/s41436-020-0829-y","volume":"22","author":"N Bartley","year":"2020","unstructured":"Bartley N, Napier C, Best M, Butow P (2020) Patient experience of uncertainty in cancer genomics: a systematic review. Genet Med 22(9):1450\u20131460. https:\/\/doi.org\/10.1038\/s41436-020-0829-y","journal-title":"Genet Med"},{"issue":"1","key":"791_CR3","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s12687-020-00491-3","volume":"12","author":"L Bradley","year":"2021","unstructured":"Bradley L, Lynch SA (2021) Dying to see you? Deaths on a clinical genetic waiting list in the Republic of Ireland; what are the consequences? J Community Genet 12(1):121\u2013127. https:\/\/doi.org\/10.1007\/s12687-020-00491-3","journal-title":"J Community Genet"},{"issue":"1","key":"791_CR4","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1136\/thx.51.1.34","volume":"51","author":"SP Conway","year":"1996","unstructured":"Conway SP, Pond MN, Watson A, Hamnett T (1996) Knowledge of adult patients with cystic fibrosis about their illness. Thorax 51(1):34\u201338. https:\/\/doi.org\/10.1136\/thx.51.1.34","journal-title":"Thorax"},{"key":"791_CR5","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01686-9","author":"TT Do","year":"2024","unstructured":"Do TT, Martyn M, McClaren B, McEwan A, Gaff C (2024) Becoming agents for genomic change: genetic counsellors\u2019 views of patient care and implementation influences when genomics is mainstreamed. Eur J Hum Genet. https:\/\/doi.org\/10.1038\/s41431-024-01686-9","journal-title":"Eur J Hum Genet"},{"key":"791_CR6","unstructured":"Eurordis Rare Barometer Surveys https:\/\/www.eurordis.org\/resources-search\/?keywordSearch=&filterPostType=publications&filterPublicationsTag=rare-barometer-survey-results&daterange= Accessed 05 August 2024"},{"key":"791_CR7","doi-asserted-by":"publisher","unstructured":"Eysenbach G (2004) Improving the quality of Web surveys: the Checklist for Reporting Results of Internet E-Surveys (CHERRIES). J Med Internet Res 29;6(3):e34. https:\/\/doi.org\/10.2196\/jmir.6.3.e34 Erratum in: https:\/\/doi.org\/10.2196\/jmir.2042","DOI":"10.2196\/jmir.6.3.e34"},{"issue":"1","key":"791_CR8","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1007\/s10897-010-9324-y","volume":"20","author":"JN Hartley","year":"2011","unstructured":"Hartley JN, Greenberg CR, Mhanni AA (2011) Genetic counseling in a busy pediatric metabolic practice. J Genet Couns 20(1):20\u201322. https:\/\/doi.org\/10.1007\/s10897-010-9324-y","journal-title":"J Genet Couns"},{"key":"791_CR9","unstructured":"Health Service Executive (2018) A Practical Guide to Newborn Bloodspot Screening in Ireland (7th edition). https:\/\/www.hse.ie\/eng\/health\/child\/newbornscreening\/newbornbloodspotscreening\/information-for-professionals\/a-practical-guide-to-newborn-bloodspot-screening-in-ireland.pdf Accessed 05 August 2024"},{"key":"791_CR10","unstructured":"Health Service Executive (2019) Model of care for rare diseases. https:\/\/www.lenus.ie\/handle\/10147\/626904 Accessed 05 August 2024"},{"key":"791_CR11","unstructured":"Health Service Executive (2022) National strategy for accelerating genetic and genomic medicine in Ireland. In: National Strategy for Accelerating Genetic and Genomic Medicine in Ireland. https:\/\/www.hse.ie\/eng\/about\/who\/strategic-programmes-office-overview\/national-strategy-for-accelerating-genetic-and-genomic-medicine-in-ireland\/national-strategy-for-accelerating-genetic-and-genomic-medicine-in-ireland.pdf Accessed 05 August 2024"},{"key":"791_CR12","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1038\/ejhg.2015.226","volume":"24","author":"G Matthijs","year":"2016","unstructured":"Matthijs G, Souche E, Alders M et al (2016) Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24:2\u20135. https:\/\/doi.org\/10.1038\/ejhg.2015.226","journal-title":"Eur J Hum Genet"},{"key":"791_CR13","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1007\/s11845-013-0927-9","volume":"182","author":"L Morrissey","year":"2013","unstructured":"Morrissey L, Tiernan CA, Lambert D et al (2013) Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment. Ir J Med Sci 182:565\u2013571. https:\/\/doi.org\/10.1007\/s11845-013-0927-9","journal-title":"Ir J Med Sci"},{"key":"791_CR14","unstructured":"National Treatment Purchase Fund (2022). https:\/\/www.ntpf.ie\/home\/outpatient.htm Accessed 05 September 2024"},{"issue":"2","key":"791_CR15","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1007\/s10897-010-9337-6","volume":"20","author":"R O'Shea","year":"2011","unstructured":"O\u2019Shea R, Murphy AM, Treacy E, Lynch SA, Thirlaway K, Lambert D (2011) Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics. J Genet Couns 20(2):192\u2013203. https:\/\/doi.org\/10.1007\/s10897-010-9337-6","journal-title":"J Genet Couns"},{"issue":"3","key":"791_CR16","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1007\/s10897-015-9912-y","volume":"25","author":"A Pichini","year":"2016","unstructured":"Pichini A, Shuman C, Sappleton K, Kaufman M, Chitayat D, Babul-Hirji R (2016) Experience with genetic counseling: The adolescent perspective. J Genet Couns 25(3):583\u2013595. https:\/\/doi.org\/10.1007\/s10897-015-9912-y","journal-title":"J Genet Couns"},{"issue":"2","key":"791_CR17","doi-asserted-by":"publisher","first-page":"374","DOI":"10.3945\/ajcn.110.009456","volume":"95","author":"BW Prick","year":"2012","unstructured":"Prick BW, Hop WC, Duvekot JJ (2012) Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am J Clin Nutr 95(2):374\u2013382. https:\/\/doi.org\/10.3945\/ajcn.110.009456","journal-title":"Am J Clin Nutr"},{"key":"791_CR18","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1023\/A:1017418800320","volume":"67","author":"CR Scriver","year":"2001","unstructured":"Scriver CR, Sly WS, ChildsBeaudetValleKinzler BALDKW et al (2001) The metabolic and molecular bases of inherited disease. Biochem Mosc 67:611\u2013612. https:\/\/doi.org\/10.1023\/A:1017418800320","journal-title":"Biochem Mosc"},{"issue":"1","key":"791_CR19","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.xfre.2020.12.001","volume":"2","author":"AC Snider","year":"2020","unstructured":"Snider AC, Isley LJ, Black LD (2020) Scope of practice distinctions based on primary work setting for genetic counselors in assisted reproductive technologies. F S Rep 2(1):80\u201387. https:\/\/doi.org\/10.1016\/j.xfre.2020.12.001","journal-title":"F S Rep"},{"issue":"6","key":"791_CR20","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1007\/s10897-017-0100-0","volume":"26","author":"QP Stein","year":"2017","unstructured":"Stein QP, Vockley CW, Edick MJ, Zhai S, Hiner SJ, Loman RS, Davis-Keppen L, Zuck TA, Cameron CA, Berry SA, Inborn Errors of Metabolism Collaborative (2017) An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC). J Genet Couns 26(6):1238\u20131243. https:\/\/doi.org\/10.1007\/s10897-017-0100-0","journal-title":"J Genet Couns"},{"issue":"2","key":"791_CR21","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s10897-006-9060-5","volume":"16","author":"M Szybowska","year":"2007","unstructured":"Szybowska M, Hewson S, Antle BJ, Babul-Hirji R (2007) Assessing the informational needs of adolescents with a genetic condition: what do they want to know? J Genet Couns 16(2):201\u2013210. https:\/\/doi.org\/10.1007\/s10897-006-9060-5","journal-title":"J Genet Couns"},{"issue":"4","key":"791_CR22","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/ajmg.c.30105","volume":"142C","author":"MR Taylor","year":"2006","unstructured":"Taylor MR, Edwards JG, Ku L (2006) Lost in transition: challenges in the expanding field of adult genetics. Am J Med Genet C Semin Med Genet 142C(4):294\u2013303. https:\/\/doi.org\/10.1002\/ajmg.c.30105","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"791_CR23","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1007\/s12687-023-00664-w","volume":"14","author":"A Ward","year":"2023","unstructured":"Ward A, Lambert D, Butterly D et al (2023) Genetic services survey\u2014experience of people with rare diseases and their families accessing genetic services in the Irish Republic. J Community Genet 14:583\u2013592. https:\/\/doi.org\/10.1007\/s12687-023-00664-w","journal-title":"J Community Genet"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-025-00791-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-025-00791-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-025-00791-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T09:03:33Z","timestamp":1756890213000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-025-00791-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,2]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,10]]}},"alternative-id":["791"],"URL":"https:\/\/doi.org\/10.1007\/s12687-025-00791-6","relation":{},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,2]]},"assertion":[{"value":"13 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 March 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ceri Arnott, Alana Ward, Deborah Lambert, Dearbhla Butterly, Vicky McGrath, Sally Ann Lynch and James O\u2019Byrne declare that they have no conflict of interest.The funding agency had no role or influence in design, analysis or reporting of this research.Financial support for Rare Diseases Ireland\u2019s advocacy work is provided by several industry partners who have an interest in rare conditions but who have no role or influence in design, analysis or reporting of this research.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.Approval for this survey was obtained from the MMUH Research Ethics committee (IRB Reference No: 1\/378\/2275).This article does not contain any studies with animal subjects performed by the any of the authors.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethics Guidelines"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}