Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis.

BACKGROUND Screening for hereditary hemochromatosis is traditionally done by using serum iron studies. However, mutation analysis of the hemochromatosis-associated HFE gene has recently become available. OBJECTIVE To compare the cost-effectiveness of no screening with four screening strategies that incorporate HFE gene testing or serum iron studies. DESIGN Cost-effectiveness analysis. DATA SOURCES Published literature. TARGET POPULATION Siblings and children of an affected proband. TIME HORIZON Lifetime from 10 years of age (children) or 45 years of age (siblings). PERSPECTIVE Societal. INTERVENTION 1) Serum iron studies. 2) Gene testing of the proband. If the proband is homozygous (C82Y+/+), the spouse undergoes gene testing; if he or she is heterozygous (C82Y+/-), the children undergo gene testing. 3) Gene testing of the proband; if he or she is homozygous, relatives undergo gene testing. 4) Direct gene testing of relatives. OUTCOME MEASURES Cost per life-year saved and incremental cost-effectiveness ratio. RESULTS OF BASE-CASE ANALYSIS In children, HFE gene testing of the proband was the most cost-effective strategy for screening one child (incremental cost-effectiveness ratio, $508 per life-year saved). HFE gene testing of the proband followed by testing of the spouse was the most cost-effective strategy for screening two or more children (incremental cost-effectiveness ratio, $3665 per life-year saved). In siblings, all screening strategies were dominant compared with no screening. Strategies using HFE gene testing were less costly than serum iron studies. RESULTS OF SENSITIVITY ANALYSIS Despite varying the prevalence of mutations and regardless of the cost of the genetic test in one- and two-way sensitivity analyses, HFE gene testing remained cost-effective. CONCLUSIONS HFE gene testing for the C282Y mutation is a cost-effective method of screening relatives of patients with hereditary hemochromatosis.