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Knowledge and perceptions of haemoglobinopathy carrier screening among general practitioners in Cardiff
Insights
General practitioners (GPs) in Cardiff support carrier screening for thalassaemia and sickle cell disease. However, they underestimate prevalence and need better information on at-risk ethnic groups before implementing a screening program.
Area of Science:
- Medical Genetics
- Public Health
- General Practice
Background:
- Haemoglobinopathies, such as thalassaemia and sickle cell disease, are significant genetic disorders.
- General practitioners (GPs) play a crucial role in identifying at-risk individuals and recommending screening.
Purpose of the Study:
- To assess the awareness, attitudes, and practices of general practitioners in Cardiff regarding haemoglobinopathy carrier screening.
- To identify barriers and facilitators for implementing a widespread screening program.
Main Methods:
- A questionnaire survey was distributed to 164 principal general practitioners in Cardiff.
- An 81% response rate was achieved, providing data on professional contact, screening recommendations, and perceived prevalence.
Main Results:
- 70% of GPs had professional contact with carriers of thalassaemia and sickle cell disease.
- 57% had recommended haemoglobinopathy screening.
- GPs significantly underestimated the prevalence of these conditions and were uncertain about at-risk ethnic populations.
Conclusions:
- The majority of Cardiff GPs consider a carrier screening program justified.
- Improved information on screening targets and relative risks is essential for effective program implementation.
Abstract:
A questionnaire was sent to 164 principal general practitioners working in Cardiff. A response rate of 81% was achieved. A total of 70% of respondents had had professional contact with a carrier for thalassaemia and a similar number for sickle cell disease, while 57% had recommended that a patient should be screened for haemoglobinopathy status. GPs tended to underestimate greatly the prevalence of haemoglobinopathies in South Glamorgan, and were uncertain of the ethnic minorities that were at particular risk. A carrier screening programme was considered justified by the majority of GPs in Cardiff and reasons for this opinion were examined. However, before a screening programme is started, information on whom to screen and their relative risk needs to be made more widely available.