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%). 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.