Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis

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Abstract
Background: A genetic test for hemochromatosis has allowed for the first time, genotypic identification of heterozygotes. The purpose of this study is to determine whether genotyping of spouses of homozygotes results in fewer investigations of children and subsequent cost savings. Methods: Two hundred and ninety one children of homozygotes were studied using HLA typing, transferrin saturation and serum ferritin. Ninety six percent of the probands were homozygous for the C282Y mutation of the HFE gene. Pedigrees were reviewed to determine cost savings incurred if the spouse had been genotyped to guide follow‐up studies in the children. Paternity was confirmed by HLA studies. Results: There were 13 homozygotes identified. All homozygous children tested (10/10) were homozygous for the C282Y mutation. There were no iron loaded children identified in homozygotes negative for the C282Y mutation. Genotyping of the spouse eliminated the need for the investigation of 269 children. The cost savings of this strategy were modeled using the cost of the family studies (consultation, iron studies) minus the cost of spouse assessment (consultation, genotyping) plus the cost of assessment of children in families in which the spouse was a heterozygote. The spousal genotyping strategy resulted in a cost savings of 39%. Conclusion: Genotying the spouse of a homozygote is the best cost‐efficient strategy in pedigree studies because it leads to more selective investigation of children for the hemochromatosis gene.