hemochromatosis: Screening?
The Lancet: "Haemochromatosis would seem to be an ideal disease for community population-screening with genetic testing. The disease is common in white populations and a genetic test for a single mutation can detect a risk of iron overload. However, population screening for haemochromatosis has not been widely endorsed. The major concerns have been the uncertainty surrounding the natural history of untreated disease,1 informed consent, labelling and stigmatisation among participants that may never develop illness, and genetic discrimination. Genetic testing continues to have a negative connotation to many and yet the rationale for genetic exceptionalism may not be well established.2 In today's Lancet, Martin Delatycki and co-workers provides strong evidence that many of these concerns about genetic testing are not valid. Key questions are whether we are screening for a significant illness, and whether iron depletion by phlebotomy improves the health status of detected C282Y homozygotes."
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