ELSI Program Reports

Hereditary Hemochromatosis: Gene Discovery and Its Implications Meeting

March 3, 1997

A workshop, co-sponsored by the Centers for Disease Control and Prevention (CDC) and the National Human Genome Research Institute (NHGRI), was held on March 3, 1997 to examine the clinical, ethical, legal and social implications of discovery of the gene for hereditary hemochromatosis and the possibility of widespread population-based testing for the disease.

An article detailing the conclusions resulting from this workshop was published in the July 8, 1998 issue of JAMA (Wylie Burke, et al. "Hereditary Hemochromatosis: Gene Discovery and Its Implications for Population-Based Screening." JAMA. 1998;280:172-178). These conclusions include:

  • Current clinical, epidemiological and genetic data suggest that the relationship between HH genotype and iron overload is complex and many questions about etiology, molecular basis and clinical course of HH-associated iron overloading remain unresolved.

  • There is currently considerable uncertainty concerning the proportion of HH-affected individuals who carry the C282Y mutation, the penetrance of the H63D mutation, and the existence of other HH genes or mutations.

  • Given the potential for psychological, social, and economic harm to affected individuals, the group concluded that, in the general population, genetic testing for HH currently offers no advantage over phenotypic testing and introduces unnecessary risk.

  • Genetic testing may have a role in family studies, if the genotype of the affected family member is known, and may help to confirm the diagnosis in some individuals whose serum iron measure suggest HH.

  • Given these factors, the consensus of individuals attending the meeting was that genetic tests for HFE mutations should not be used in population screening at the present time.

In December 1998, the National Heart, Lung, and Blood Institute (NHLBI) and the NHGRI released a Request for Proposals to Study Iron Overload and Hereditary Hemochromatosis [nhlbi.nih.gov]. This RFP was designed to solicit proposals to carry out an epidemiological study of the prevalence, genetic and environmental determinants, and potential clinical, personal and societal impact of iron overload and hereditary hemochromatosis (HH) in a muilti-center, multi-ethnic, primary care based sample of approximately 100,000 adults. This is a five year, $30 million project.

Contracts to carry out this project were awarded in early FY00 to five field centers, a coordinating center, and a central lab.

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Last Updated: October 1, 2012