title: The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.
abstract: OBJECTIVE
  To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted.
  
  
  METHODS
  A survey online was conducted by the European Federation of Associations of Patients with Haemochromatosis (EFAPH) and applied to members of nine National Associations.
  
  
  RESULTS
  From a total of 1019 validated questionnaires, 895 respondents had performed a genetic testing for HH. From these, 627 self-declared that they were sufficiently informed about the implications of the genetic test to their health. The majority (66%) obtained the information from a specialist doctor, but would like to obtain it from the family doctor. However, the specialist was still the one they trusted more (69%). Regarding the 298 respondents who did not feel sufficiently informed, the majority (78%) also would like to have information from the family doctor although they also trusted the specialist more (75%). A different perspective was reported when patients were asked about the implications of the genetic testing to their family members, where the majority of respondents preferred obtaining information from a specialist (69%).
  
  
  CONCLUSIONS
  This study elucidates the patients' needs for information and identifies the general practitioner (GP) as the preferred source to obtain information about HH.
  
  
  CONCLUSIONS
  These results may have important implications in future strategies for HH awareness, giving a special emphasis on GPs as the main players.
authors.affiliation: IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal; FCUP - Faculty of Science, University of Porto, Porto, Portugal.
authors.forename: Emerência
authors.initials: E
authors.lastname: Teixeira
authors.affiliation: IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.
authors.forename: Júlio
authors.initials: J
authors.lastname: Borlido-Santos
authors.affiliation: National Reference Centre for Rare Iron Overload Disorders of Genetic Origin and Inserm U-991, Pontchaillou University Hospital, Rennes, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Brissot
authors.affiliation: Haemochromatose-Vereinigung Deutschland e.V.(HVD), Koeln, Germany; EFAPH - European Federation of Associations of Patients with Haemochromatosis, Croissy-sur-Seine, France.
authors.forename: Barbara
authors.initials: B
authors.lastname: Butzeck
authors.affiliation: FFAMH - Fédération Française des Associations de Malades de l'Hemochromatose, Paris, France; EFAPH - European Federation of Associations of Patients with Haemochromatosis, Croissy-sur-Seine, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Courtois
authors.affiliation: Doctor-on-a-Chip Laboratory, Department of Electronic and Computer Engineering, School of Engineering and Design, Brunel University, Uxbridge, United Kingdom; The Haemochromatosis Society, Hertfordshire, United Kingdom.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Evans
authors.affiliation: The Haemochromatosis Society, Hertfordshire, United Kingdom.
authors.forename: Janet
authors.initials: J
authors.lastname: Fernau
authors.affiliation: CES - Centre for Social Studies, University of Coimbra, Coimbra, Portugal.
authors.forename: João Arriscado
authors.initials: JA
authors.lastname: Nunes
authors.affiliation: Irish Haemochromatosis Association, Dublin, Ireland.
authors.forename: Margaret
authors.initials: M
authors.lastname: Mullett
authors.affiliation: IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal; CGPP - Centre for Predictive and Preventive Medicine, Porto, Portugal.
authors.forename: Milena
authors.initials: M
authors.lastname: Paneque
authors.affiliation: FFAMH - Fédération Française des Associations de Malades de l'Hemochromatose, Paris, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Pineau
authors.affiliation: IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal; CGPP - Centre for Predictive and Preventive Medicine, Porto, Portugal; CHP-HSA, Porto Hospital Center - Santo António Hospital, Porto, Portugal; Associação Portuguesa de Hemocromatose, Porto, Portugal. Electronic address: GPorto@ibmc.up.pt.
authors.forename: Graça
authors.initials: G
authors.lastname: Porto
authors.affiliation: Associazione per lo Studio di Emocromatosi e delle Malattie da Sovraccarico di Ferro, Monza, Italy.
authors.forename: Robert
authors.initials: R
authors.lastname: Sorrill
authors.affiliation: IMPPC - Institute of Predictive and Personalized Medicine of Cancer, Badalona, Barcelona, Spain; IJC - Josep Carreras Leukemia Research Institute, Barcelona, Spain.
authors.forename: Mayka
authors.initials: M
authors.lastname: Sanchez
authors.affiliation: Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases (LGEM 830) Radboud University Medical Centre, Nijmegen, The Netherlands; Hemochromatose Vereniging Nederland, Leidschendam, The Netherlands.
authors.forename: Dorine W
authors.initials: DW
authors.lastname: Swinkels
authors.affiliation: Norwegian Haemochromatosis Association, Bergen, Norway.
authors.forename: Ketil
authors.initials: K
authors.lastname: Toska
authors.affiliation: 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary; Hemokromatozisos Betegek Eyesülete, Budapest, Hungary.
authors.forename: Judit
authors.initials: J
authors.lastname: Varkonyi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003142:Communication; D005260:Female; D058005:General Practitioners; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D057226:Information Seeking Behavior; D020407:Internet; D008297:Male; D008875:Middle Aged; D010353:Patient Education as Topic; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: General practitioner; Hereditary haemochromatosis; Patient communication; Sources of information