Emerência Teixeira1, Júlio Borlido-Santos2, Pierre Brissot3, Barbara Butzeck4, Françoise Courtois5, Robert W Evans6, Janet Fernau7, João Arriscado Nunes8, Margaret Mullett9, Milena Paneque10, Brigitte Pineau11, Graça Porto12, Robert Sorrill13, Mayka Sanchez14, Dorine W Swinkels15, Ketil Toska16, Judit Varkonyi17. 1. IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal; FCUP - Faculty of Science, University of Porto, Porto, Portugal. 2. IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal. 3. National Reference Centre for Rare Iron Overload Disorders of Genetic Origin and Inserm U-991, Pontchaillou University Hospital, Rennes, France. 4. Haemochromatose-Vereinigung Deutschland e.V.(HVD), Koeln, Germany; EFAPH - European Federation of Associations of Patients with Haemochromatosis, Croissy-sur-Seine, France. 5. 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. 6. 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. 7. The Haemochromatosis Society, Hertfordshire, United Kingdom. 8. CES - Centre for Social Studies, University of Coimbra, Coimbra, Portugal. 9. Irish Haemochromatosis Association, Dublin, Ireland. 10. IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal; CGPP - Centre for Predictive and Preventive Medicine, Porto, Portugal. 11. FFAMH - Fédération Française des Associations de Malades de l'Hemochromatose, Paris, France. 12. 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. 13. Associazione per lo Studio di Emocromatosi e delle Malattie da Sovraccarico di Ferro, Monza, Italy. 14. IMPPC - Institute of Predictive and Personalized Medicine of Cancer, Badalona, Barcelona, Spain; IJC - Josep Carreras Leukemia Research Institute, Barcelona, Spain. 15. 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. 16. Norwegian Haemochromatosis Association, Bergen, Norway. 17. 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary; Hemokromatozisos Betegek Eyesülete, Budapest, Hungary.
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%). CONCLUSION: This study elucidates the patients' needs for information and identifies the general practitioner (GP) as the preferred source to obtain information about HH. PRACTICE IMPLICATIONS: These results may have important implications in future strategies for HH awareness, giving a special emphasis on GPs as the main players.
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%). CONCLUSION: This study elucidates the patients' needs for information and identifies the general practitioner (GP) as the preferred source to obtain information about HH. PRACTICE IMPLICATIONS: These results may have important implications in future strategies for HH awareness, giving a special emphasis on GPs as the main players.
Authors: Svenja Litzkendorf; Tobias Hartz; Jens Göbel; Holger Storf; Frédéric Pauer; Ana Babac; Verena Lührs; Leena Bruckner-Tuderman; Franziska Schauer; Jörg Schmidtke; Lisa Biehl; Tof Wagner; J-Matthias Graf von der Schulenburg; Martin Frank Journal: JMIR Res Protoc Date: 2018-05-11