Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers

Aims: To estimate the cost of population screening fbr haemochromatosis in Australia and to compare the cost of alternative screening strategies, Methods: The costs of screening for haemochromatosis were analysed in a hypothetical study using transferrin saturation as the primary screening test, with confirmation of the diagnosis by either liver biopsy or DNA testing for the recently-described haemochromatosis gene. Results: Screening, with confirmation of the diagnosis by liver biopsy, would cost between US$5079 and US$8813 per case detected (excluding administrative costs), depending on the screening strategy (Aust$= US$0.80), If a DNA test were used instead of liver biopsy, the cost would be reduced to an estimated US$3954-US$4410 per case, This would be further reduced to US$2457 by detection of additional cases by screening family members. The least costly strategy utilised a transferrin saturation threshold of 55% and DNA testing for confirmation of the diagnosis; however, a transferrin saturation threshold of 45% increased the cost only marginally, The initial screening step (transferrin saturation) accounted for 74%-94% of the estimated cost of the screening programme. Conclusions: Screening for haemochromatosis using transferrin saturation involves relatively modest costs which may be recovered if complications of haemochromatosis can be prevented by early detection and treatment, The most cost-effective strategies utilised transferrin saturation for initial screening, followed by DNA testing, Reduction in the cost of transferrin saturation would lead to a significant reduction in total screening costs, Additional benefits of a screening programme include detection of other iron overload disorders and iron deficiency.