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

Abstract:

AIMS:To estimate the cost of population screening for 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.

journal_name

J Hepatol

journal_title

Journal of hepatology

authors

Bassett ML,Leggett BA,Halliday JW,Webb S,Powell LW

doi

10.1016/s0168-8278(97)80357-1

subject

Has Abstract

pub_date

1997-09-01 00:00:00

pages

517-24

issue

3

eissn

0168-8278

issn

1600-0641

pii

S0168-8278(97)80357-1

journal_volume

27

pub_type

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