Comparison of two screening strategies for haemochromatosis : a pilot study investigating uptake and acceptability, feasibility and cost

Abstract

There is a consensus, that evaluation of screening programmes requires an assessment of the balance between the benefit of the screening programme and the harm that might be caused by screening.  This should include evaluation of all the components of the programme such as uptake of screening and characteristics of the population being offered and accepting screening.

Design: Randomised controlled equivalence/non-inferiority trial of two screening strategies.

a)  Biochemical screening for iron overload on a blood sample taken at the General Practitioner’s surgery, followed by genetic analysis and clinical assessment in those screened positive.

b)  Genetic screening for the risk gentype on a saliva sample performed at home, followed by biochemical testing for iron overload and clinical assessment in those screened positive.

Results: Approximately 3000 individuals from a general practice population aged 30-70 were offered screening.  There was no difference in the feasibility and acceptability of screening as assessed by uptake and psychological assessments. Overall uptake was low 34%, the factors affecting the probability of accepting screening were age, gender and social deprivation. Both strategies detected cases requiring further management or treatment. The biochemical strategy had the lowest cost per case detected.

Discussion:  This is the first reported study to systematically evaluate screening for haemochromatosis in primary care, specifically comparing a genetic and biochemical screening strategy. The genetic strategy was no less acceptable than the biochemical strategy and both strategies were feasible and detected cases. It is suggested that in the future genetic factors will be used to predict disease and may be used for screening. Evaluation of these technologies should apply existing methodologies from epidemiology and health services research.  Evaluation of screening should be focused on the predictive value of the screening strategy, the effectiveness of diagnosis and treatment and the balance between the costs and benefits of the programme.

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