{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T13:40:38Z","timestamp":1694871638427},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T00:00:00Z","timestamp":1389139200000},"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":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There is a general consensus that HFE\u2010 related Hereditary Haemochromatosis (HFE\u2010HH) should be diagnosed at early stages in pre\u2010symptomatic individuals, in order to prevent the most severe consequences of iron overload. In Portugal, despite an increasing number of requests for genetic diagnosis of this rare disease, there is not a corresponding increase in requests for genetic counselling. The objective of the present study was to evaluate physicians\u2019 main motivations for requesting <jats:italic>HFE<\/jats:italic> genotyping or genetic counselling for HFE\u2010HH. We assessed current medical practices regarding family testing and diagnosis and discuss whether these can be improved in order to increase the effectiveness of disease prevention. Our results show there is a general lack of knowledge about the selection of patient cases that should be sent for genetic counseling or for molecular testing of HFE\u2010HH by physicians (especially by general practitioners). The lack of family\u2010based screening may indirectly compromise the efficiency of disease prevention in terms of early diagnosis and treatment. We concluded it is necessary to circulate more information about Hereditary Haemochromatosis among health professionals in order to improve strategies for its early diagnosis.<\/jats:p>","DOI":"10.1007\/s10897-013-9681-4","type":"journal-article","created":{"date-parts":[[2014,1,7]],"date-time":"2014-01-07T04:18:32Z","timestamp":1389068312000},"page":"770-777","source":"Crossref","is-referenced-by-count":3,"title":["Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting <i>HFE<\/i> Genotyping"],"prefix":"10.1002","volume":"23","author":[{"given":"Bruna","family":"Leandro","sequence":"first","affiliation":[{"name":"ICBAS Universidade do Porto Porto Portugal"},{"name":"Centre for Predictive and Preventive Genetics (CGPP), IBMC \u2013 Institute for Molecular and Cell Biology Universidade do Porto Rua do Campo Alegre, n\u00ba 823 Porto 4150\u2010180 Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Paneque","sequence":"additional","affiliation":[{"name":"ICBAS Universidade do Porto Porto Portugal"},{"name":"Centre for Predictive and Preventive Genetics (CGPP), IBMC \u2013 Institute for Molecular and Cell Biology Universidade do Porto Rua do Campo Alegre, n\u00ba 823 Porto 4150\u2010180 Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"ICBAS Universidade do Porto Porto Portugal"},{"name":"Centre for Predictive and Preventive Genetics (CGPP), IBMC \u2013 Institute for Molecular and Cell Biology Universidade do Porto Rua do Campo Alegre, n\u00ba 823 Porto 4150\u2010180 Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gra\u00e7a","family":"Porto","sequence":"additional","affiliation":[{"name":"ICBAS Universidade do Porto Porto Portugal"},{"name":"Centre for Predictive and Preventive Genetics (CGPP), IBMC \u2013 Institute for Molecular and Cell Biology Universidade do Porto Rua do Campo Alegre, n\u00ba 823 Porto 4150\u2010180 Portugal"},{"name":"Servi\u00e7o de Hematologia, Hospital de Santo Ant\u00f3nio, Centro Hospitalar do Porto Porto Portugal"},{"name":"Servi\u00e7o de Hematologia, Centro Hospitalar do Porto \u2010 Hospital Geral de Santo Ant\u00f3nio Lg. Prof. Abel Salazar Porto 4099\u2010001 Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa041534"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365521.2011.591426"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000182895.28432.c7"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000162877.87333.9A"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000200159.19920.b5"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200723"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2012.06.015"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2010.03.001"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.01687.x"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000226594"},{"key":"e_1_2_11_12_1","unstructured":"Human Genetics Advisory Committee Meeting: communique. Canberra 18 February2010. Available atwww.nhmrc.gov.au\/about\/committees\/hgac\/meeting_100218.htm[Accessed 19 May 2010]."},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-81"},{"issue":"9","key":"e_1_2_11_14_1","first-page":"689","article-title":"Genetics and genomics in general practice","volume":"39","author":"Liaw S. T.","year":"2010","journal-title":"Australian Family Physician"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.1996.v110.pm8613000"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-149-4-200808190-00009"},{"issue":"4","key":"e_1_2_11_17_1","first-page":"246","article-title":"Genetics education for non\u2010genetic health care professionals in the Netherlands","volume":"9","author":"Plass A. M.","year":"2002","journal-title":"Community Genetics"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.64"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/MLR.0b013e318245a06e"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/sw\/46.2.125"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-145-3-200608010-00008"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beha.2004.08.023"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.23.12384"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2006.07.009"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-145-3-200608010-00009"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-013-9681-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:59:31Z","timestamp":1694818771000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10897-013-9681-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,8]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1007\/s10897-013-9681-4"],"URL":"https:\/\/doi.org\/10.1007\/s10897-013-9681-4","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,8]]}}}