Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping
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There is a general consensus that HFE- related Hereditary Haemochromatosis (HFE-HH) should be diagnosed at early stages in pre-symptomatic 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’ main motivations for requesting HFE genotyping or genetic counselling for HFE-HH. 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-HH by physicians (especially by general practitioners). The lack of family-based 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.
KeywordsHaemochromatosis HFE genotyping Genetic counseling Medical education General practitioners
We are grateful to all participants for their time and valuable contributions to this study. This work was produced within the framework of a research seminar of the professional master course in genetic counseling of ICBAS, Universidade do Porto, and was funded in part by the Calouste Gulbenkian Foundation, through a fellowship to Bruna Leandro, and by the Portuguese Foundation for Science and Technology (FCT), through a postdoctoral fellowship to Milena Paneque (SFRH/BPD/66484/2009) and through the project PIC/IC/82785/2007. We also thank Carol Ann Harley, at the IBMC, for detailed revision of the manuscript.
Disclosure of Interest
The authors declare that they do not have any actual or potential conflict of interest.
They have full control of all primary data and they agree to allow the journal to review their data if requested.
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