In the news

The German health insurance company Kaufmännische Krankenkasse (KKH) has reportedly offered free testing for hereditary haemochromatosis to its customers, of whom 4000 took the test and a further 2000 declined [BMJ 2004; 329, 1364]. Haemochromatosis is an autosomal recessive condition; some individuals who are homozygous for mutations in the HFE gene will develop clinical haemochromatosis, characterized by inappropriately high levels of iron in the blood that, if untreated, can eventually lead to fatal liver or heart failure. However, penetrance of the disease is highly variable; many homozygotes show no clinical disease. The mutations associated with hereditary haemochromatosis are very common; around 10% of Caucasian populations carry a copy.

Results of the genetic test were not divulged to the company, but it was reported that a total of 67 individuals were told that they were ‘at high risk’ of the disease, on the basis that they were found to be homozygous for mutations in the HFE gene. The assertion was that these individuals could avoid developing serious disease by undergoing preventative treatment (regular blood-letting). A company spokesman said that the estimated cost of treating someone with late-stage haemochromatosis was around €100 000, compared with a cost of about €14 per genetic test. However, this overlooked the fact that many individuals considered to be at high risk would never develop the disease anyway. The testing also identified around 500 heterozygous carriers of haemochromatosis mutation, many of whom reportedly regretted taking the test.

The German government is in the process of drawing up a draft bill on gene testing to establish new regulations, expected to become law in 2006. These will protect individuals from having to disclose the results of any genetic tests to employers or to life insurance companies, for insurance of less than €250 000. It will also become compulsory to offer counselling for all people offered genetic tests.