| Title |
Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping
|
|---|---|
| Published in |
Journal of Genetic Counseling, January 2014
|
| DOI | 10.1007/s10897-013-9681-4 |
| Pubmed ID | |
| Authors |
Bruna Leandro, Milena Paneque, Jorge Sequeiros, Graça Porto |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 28 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 18% |
| Student > Bachelor | 5 | 18% |
| Researcher | 4 | 14% |
| Student > Ph. D. Student | 3 | 11% |
| Professor > Associate Professor | 2 | 7% |
| Other | 5 | 18% |
| Unknown | 4 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 8 | 29% |
| Biochemistry, Genetics and Molecular Biology | 6 | 21% |
| Social Sciences | 5 | 18% |
| Nursing and Health Professions | 2 | 7% |
| Veterinary Science and Veterinary Medicine | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 5 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 August 2016.
All research outputs
#14,771,194
of 22,739,983 outputs
Outputs from Journal of Genetic Counseling
#718
of 1,141 outputs
Outputs of similar age
#182,434
of 304,743 outputs
Outputs of similar age from Journal of Genetic Counseling
#9
of 16 outputs
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