{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T14:19:58Z","timestamp":1756995598480},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,1,6]],"date-time":"2011-01-06T00:00:00Z","timestamp":1294272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Many children with chronic genetic diseases are followed by specialty clinics that provide genetic information as part of the care. Health services restrictions in the Republic of Ireland (ROI) can make the wait for an appointment with a genetic counsellor long. We examined whether genetic information was being adequately understood when presented by medical, but non\u2010genetics staff to long term patients, using our national metabolic service as an example. The aim was to inform health professionals about the need or role of a genetic counsellor in a specialist setting. A questionnaire was used to assess knowledge among parents and patients affected by galactosaemia and Maple Syrup Urine Disease (MSUD). Twenty seven families with galactosemia and 10 with MSUD were interviewed in clinic. Comparative analysis showed significant differences in knowledge between parents of children with galactosemia and adult patients (<jats:italic>p<\/jats:italic>\u2009=\u20090.001) and between ethnicities (<jats:italic>p<\/jats:italic>\u2009&gt;\u20090.05). While parents are well informed, the majority expressed a wish for more information about the condition and its transmission. Adult patients with galactosemia and parents from certain ethnic backgrounds could especially benefit from genetic counselling. This study highlights the need for a genetic counsellor in specialist clinics.<\/jats:p>","DOI":"10.1007\/s10897-010-9337-6","type":"journal-article","created":{"date-parts":[[2011,1,5]],"date-time":"2011-01-05T17:55:19Z","timestamp":1294250119000},"page":"192-203","source":"Crossref","is-referenced-by-count":9,"title":["Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics"],"prefix":"10.1002","volume":"20","author":[{"given":"Rosie","family":"O'Shea","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, Heath Park Cardiff University Cardiff CF14 4XN UK"},{"name":"Genetics Department Children's University Hospital Temple Street Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne Marie","family":"Murphy","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disease Children's University Hospital Temple Street Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eileen","family":"Treacy","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disease Children's University Hospital Temple Street Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[{"name":"National Centre for Medical Genetics Our Lady's Childrens Hospital Crumlin Dublin 12 Ireland"},{"name":"Genetics Department Children's University Hospital Temple Street Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Thirlaway","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Heath Park Cardiff University Cardiff CF14 4XN UK"},{"name":"University of Wales Institiute Cardiff Llandaff Campus, Western Avenue Cardiff Wales CF5 2YB UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debby","family":"Lambert","sequence":"additional","affiliation":[{"name":"National Centre for Medical Genetics Our Lady's Childrens Hospital Crumlin Dublin 12 Ireland"},{"name":"Genetics Department Children's University Hospital Temple Street Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,1,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0277-9536(98)00241-X"},{"key":"e_1_2_7_3_1","first-page":"16","article-title":"Galactosemia\u2014a controversial disorder. Screening and outcome. Ireland 1972\u20131992","volume":"89","author":"Badawi N.","year":"1996","journal-title":"Irish Medical Journal"},{"key":"e_1_2_7_4_1","unstructured":"Callanan K. Evans D. &Syron M.(2002).Health needs of Irish Travellers: Attitudes and perceptions of the Travelling Community in the Western Health Board.Report by Traveller Health Unit and Department of Public Health."},{"key":"e_1_2_7_5_1","volume-title":"Principal demographic results.","author":"Census","year":"2002"},{"key":"e_1_2_7_6_1","first-page":"225","volume-title":"Practical nonparametric statistics","author":"Conover W. J.","year":"1980"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.51.1.34"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201822"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201883"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0954-6111(06)80183-6"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1542\/peds.85.6.1008","article-title":"Errors, gaps and misconceptions in disease\u2010related knowledge of cystic fibrosis patients and their families","volume":"85","author":"Henley L. D.","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_7_12_1","first-page":"1553","volume-title":"The metabolic and molecular basis of inherited disease","author":"Holton J. B.","year":"2001"},{"key":"e_1_2_7_13_1","first-page":"521","article-title":"Transitioning to adult health care facilities for young adults with a chronic condition","volume":"27","author":"Lewis\u2010Gary M. D.","year":"2001","journal-title":"Pediatric Nursing ProQuest Nursing & Allied Health Source"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80196-2"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.6.999"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200327"},{"key":"e_1_2_7_17_1","unstructured":"National Adult Literacy Agency NALA(2002)Health literacy research report."},{"key":"e_1_2_7_18_1","unstructured":"National Society of Genetic Counselors (NSGC)http:\/\/www.nsgc.org."},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1542\/peds.77.2.229","article-title":"Knowledge of cystic fibrosis in patients and their parents","volume":"77","author":"Nolan T.","year":"1986","journal-title":"Pediatrics"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201983"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1352-2"},{"key":"e_1_2_7_22_1","first-page":"113","article-title":"Social outcome in adults with maple syrup urine disease","volume":"264","author":"Simon E.","year":"2007","journal-title":"Journal of Inherited and Metabolic Disease"},{"key":"e_1_2_7_23_1","unstructured":"Traveller Health Issue(2001).The Journal of Health Gain5."},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2791"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800204"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2648.2006.03760.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1569-1993(03)00026-2"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-010-9337-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10897-010-9337-6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-010-9337-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T18:29:47Z","timestamp":1694802587000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10897-010-9337-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,6]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["10.1007\/s10897-010-9337-6"],"URL":"https:\/\/doi.org\/10.1007\/s10897-010-9337-6","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,6]]}}}