Hereditary hemochromatosis - Gene discovery and its implications for population-based screening

被引:235
作者
Burke, W
Thomson, E
Khoury, MJ
McDonnell, SM
Press, N
Adams, PC
Barton, JC
Beutler, E
Brittenham, G
Buchanan, A
Clayton, EW
Cogswell, ME
Meslin, EM
Motulsky, AG
Powell, LW
Sigal, E
Wilfond, BS
Collins, FS
机构
[1] Univ Washington, Dept Med, Seattle, WA 98105 USA
[2] Univ Washington, Dept Genet, Seattle, WA 98195 USA
[3] NIH, Natl Ctr Human Genome Res, Bethesda, MD 20892 USA
[4] Ctr Dis Control & Prevent, Off Genet & Dis Prevent, Atlanta, GA USA
[5] Ctr Dis Control & Prevent, Div Nutr & Phys Act, Atlanta, GA USA
[6] Univ Calif Los Angeles, Dept Psychiat & Biobehav Med, Los Angeles, CA USA
[7] Univ Western Ontario, Dept Med, London, ON, Canada
[8] So Iron Disorders Ctr, Birmingham, AL USA
[9] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA USA
[10] Case Western Reserve Univ, Metrohlth Med Ctr, Dept Med, Cleveland, OH USA
[11] Univ Wisconsin, Sch Business, Madison, WI 53706 USA
[12] Vanderbilt Univ, Dept Pediat, Nashville, TN USA
[13] Vanderbilt Univ, Sch Law, Nashville, TN 37240 USA
[14] Univ Queensland, Dept Med, Brisbane, Qld 4000, Australia
[15] Queensland Inst Med Res, Brisbane, Qld 4006, Australia
[16] Mercator Genet, Menlo Park, CA USA
[17] Univ Arizona, Dept Pediat, Tucson, AZ 85721 USA
来源
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION | 1998年 / 280卷 / 02期
关键词
D O I
10.1001/jama.280.2.172
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective.-To evaluate the role of genetic testing in screening for hereditary hemochromatosis to help guide clinicians, policymakers, and researchers. Participants.-An expert panel was convened on March 3, 1997, by the Centers for Disease Control and Prevention (CDC) and the National Human Genome Research Institute (NHGRI), with expertise in epidemiology, genetics, hepatology, iron overload disorders, molecular biology, public health, and the ethical, legal, and social implications surrounding the discovery and use of genetic information. Evidence.-The group reviewed evidence regarding the clinical presentation, natural history, and genetics of hemochromatosis, including current data on the candidate gene for hemochromatosis (HFE) and on the ethical and health policy implications of genetic testing for this disorder. Consensus Process.-Consensus was achieved by group discussion confirmed by a voice vote. A draft of the consensus statement was prepared by a writing committee and subsequently reviewed and revised by all members of the expert group over a 1-year period. Conclusions.-Genetic testing is not recommended at this time in population-based screening for hereditary hemochromatosis, due to uncertainties about prevalence and penetrance of HFE mutations and the optimal care of asymptomatic people carrying HFE mutations. In addition, use of a genetic screening test raises concerns regarding possible stigmatization and discrimination. Tests for HFE mutations may play a role in confirming the diagnosis of hereditary hemochromatosis in persons with elevated serum iron measures, but even this use is limited by uncertainty about genotype-phenotype correlations. To address these questions, the expert group accorded high priority to population-based research to define the prevalence of HFE mutations, age and sex-related penetrance of different HFE genotypes, interactions between HFE genotypes and environmental modifiers, and psychosocial outcomes of genetic screening for hemochromatosis.
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页码:172 / 178
页数:7
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