Hashem B. El-Serag, MD, MPH; John M. Inadomi, MD; Kris V. Kowdley, MD
Acknowledgment: The authors thank Professor Denis M. McCarthy for his overall support and Amnon Sonnenberg, MD, MSc, for advice on mathematical issues.
Grant Support: In part by a Glaxo Wellcome Foundation for Digestive Health Award for Outcomes Research (Dr. El-Serag) and by the Veterans Affairs HSR&D Houston Center of Excellence.
Requests for Single Reprints: John M. Inadomi, MD, Divisions of Gastroenterology and Health Services Research, Ann Arbor Veterans Affairs Medical Center, 2215 Fuller Road (111-D), Ann Arbor, MI 48105; e-mail, firstname.lastname@example.org.
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Current Author Addresses: Dr. El-Serag: Health Services Research Section (152), Houston Veterans Affairs Medical Center and Baylor College of Medicine, 2002 Holcombe Boulevard, Houston, TX 77030.
Dr. Inadomi: Divisions of Gastroenterology and Health Services Research, Ann Arbor Veterans Affairs Medical Center, 2215 Fuller Road (111-D), Ann Arbor, MI 48105; e-mail, firstname.lastname@example.org.
Dr. Kowdley: Division of Gastroenterology/Hepatology, University of Washington Medical Center, Box 356154, Seattle, WA 98195.
Author Contributions: Conception and design: H.B. El-Serag, J.M. Inadomi, K.V. Kowdley.
Analysis and interpretation of the data: H.B. El-Serag, J.M. Inadomi, K.V. Kowdley.
Drafting of the article: H.B. El-Serag, J.M. Inadomi, K.V. Kowdley.
Critical revision of the article for important intellectual content: H.B. El-Serag, J.M. Inadomi, K.V. Kowdley.
Final approval of the article: H.B. El-Serag, J.M. Inadomi, K.V. Kowdley.
Statistical expertise: H.B. El-Serag, J.M. Inadomi.
Administrative, technical, or logistic support: H.B. El-Serag.
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.
To compare the cost-effectiveness of no screening with four screening strategies that incorporate HFE gene testing or serum iron studies.
Siblings and children of an affected proband.
Lifetime from 10 years of age (children) or 45 years of age (siblings).
1] Serum iron studies. 2) Gene testing of the proband. If the proband is homozygous (C282Y+/+), the spouse undergoes gene testing; if he or she is heterozygous [C282Y+/−], 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.
Cost per life-year saved and incremental cost-effectiveness ratio.
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.
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.
HFE gene testing for the C282Y mutation is a cost-effective method of screening relatives of patients with hereditary hemochromatosis.
A decision-analytic model comparing the costs incurred by no screening with four strategies to screen relatives of an affected patient with hereditary hemochromatosis.
Algorithm for screening siblings or children of a proband with hereditary hemochromatosis by usingHFEgene testing.
Screening of children for hereditary hemochromatosis.
Screening of siblings for hereditary hemochromatosis.
The cost of screening a combination of relatives for hereditary hemochromatosis
Table. One-Way Sensitivity Analysis for Hemochromatosis Screening
Appendix Table. Model Assumptions
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El-Serag HB, Inadomi JM, Kowdley KV. Screening for Hereditary Hemochromatosis in Siblings and Children of Affected Patients: A Cost-Effectiveness Analysis. Ann Intern Med. 2000;132:261–269. doi: https://doi.org/10.7326/0003-4819-132-4-200002150-00003
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Published: Ann Intern Med. 2000;132(4):261-269.
Healthcare Delivery and Policy, Prevention/Screening.
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