Public health aspects of genetic screening for hereditary haemochromatosis in Australia

Abstract

Abstract Hereditary haemochromatosis (HH) is an inherited disorder of iron absorption. It meets several of the key public health principles for population‐based screening and is considered to be a test‐case for public health genetics However, there has been relatively little debate in the public health or wider community regarding the merits of population‐based genetic screening for HH. Genetic susceptibility to HH occurs in about 1:200 people and although mortality is low (age‐standardised rate 2.75/million), there are potentially serious clinical manifestations of iron overload. Regular venesection is a simple and effective treatment for early stage iron overload. DNA‐based testing is available and iron overload may be identified using serum transferrin saturation and ferritin tests. However, there are important gaps in knowledge relevant to screening for HH. The limited data on penetrance of HFE genotypes, and thus the uncertain probability that genetically susceptible individuals will develop clinically significant disease, is a major impediment to population‐based genetic screening. Clinical evidence supports treating early‐stage disease but no randomised controlled trials of the effectiveness of screening in reducing the burden of disease have been conducted. In addition, the natural history of early stages of HH and factors that may modify progression are unclear. Two international consensus panels on HH concluded that there is insufficient evidence for population‐based screening at present. We present recommendations to advance the debate on screening for HH in Australia.