Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study

被引:12
作者
Anderson, Roger T.
Wenzel, Lari
Walker, Ann P.
Ruggiero, Andrea
Acton, Ronald T.
Hall, Mark A.
Tucker, Diane C.
Thomson, Elizabeth
Harrison, Barbara
Howe, Edmund, III
Holup, Joan
Leiendecker-Foster, Catherine
Power, Tara
Adams, Paul
机构
[1] Wake Forest Univ, Sch Med, Dept Publ Hlth Sci, Winston Salem, NC 27157 USA
[2] Univ Calif Irvine, Dept Med, Ctr Hlth Policy Res, Irvine, CA 92717 USA
[3] Univ Calif Irvine, Ctr Med, Dept Pediat, Irvine, CA 92717 USA
[4] Univ Alabama Birmingham, Dept Microbiol, Div Human Genet, Birmingham, AL USA
[5] Univ Alabama Birmingham, Dept Epidemiol & Int Hlth, Div Human Genet, Birmingham, AL USA
[6] Univ Alabama Birmingham, Dept Psychol, Birmingham, AL 35294 USA
[7] NHGRI, Bethesda, MD 20892 USA
[8] Uniformed Serv Univ Hlth, Dept Psychiat, Bethesda, MD USA
[9] Kaiser Permanente Ctr Hlth Res, Portland, OR USA
[10] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA
[11] Univ Western Ontario, Dept Psychol, London, ON, Canada
关键词
hemochromatosis; screening; acceptance; ethics; primary care; HEIRS;
D O I
10.1097/01.gim.0000245631.07117.ac
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin. Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening. Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload. Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.
引用
收藏
页码:681 / 687
页数:7
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