Already as a result of the Human Genome Project, new disease genes are discovered almost weekly. Once a disease gene is identified it is often only a matter of months before a diagnostic test can be made available. In some instances the development of accurate diagnostic technologies can be potentially life-saving. It is a common recessive disease where 1 in 10 Northern Europeans are carriers of the trait, and 1 in 400 have the disease. It is caused by a defect in iron metabolism that results in the accumulation of iron in various organs in the body.
Early treatment can prevent the clinical manifestations of the disease.
Currently, however, HH can masquerade as other diseases and is frequently misdiagnosed, preventing prompt treatment and leading to needless deaths. Now that the gene has been identified, it is likely a genetic test could be available soon. This example illustrates the far-reaching beneficial effects of genetic research on public health. However, unlike HH no simple effective treatments are now available for these genetic disorders. Predictive genetic testing of healthy individuals in the face of poor or uncertain preventative or therapeutic interventions, raises many questions about benefits and risks.