[Should we support large-scale screening for genetic haemochromatosis in France?].
Genetic hemochromatosis meets the principal World Health Organization criteria for diseases warranting systematic population screening. Indeed, it is a frequent, late-onset, severe disease that is easy to diagnose and cure. However, its penetrance is much lower than thought prior to the discovery of the HFE1 gene, whose C282 Y mutation is responsible for more than 95% of cases with phenotypic expression. Moreover, several questions remain to be answered, notably concerning practical modalities [genotypic or phenotypic screening? at what age?, etc.], the risk of genetic discrimination, and cost-effectiveness. Current recommendations should include [i] broad information of the general population and GPs on early symptoms, [ii] transferrin saturation assay in all patients with symptoms compatible with hemochromatosis and, when elevated, genetic testing, the cost of which should be covered by public health insurance, [iii] both phenotypic and genotypic screening of all proband families, and [iv] implementation of regional and national pilot studies aimed at assessing disease penetrance and the acceptability and cost-effectiveness of large-scale screening.
Deugnier
Yves
Y
Service des Maladies du Foie (Centre de Dépistage Familial de l'Hémochromatose), INSERM 0203, CHU Pontchaillou 35033 Rennes. yves.deugnier@univ-rennes1.fr
Le Gall
Jean-Yves
JY
D005602:France; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008403:Mass Screening / Q000706:statistics & numerical data*; D010641:Phenotype