The Working Group on Research Priorities used a formal nominal group technique to identify and prioritize the specific aims of applied research needed to provide the scientific basis for population screening for iron overload disorders.
The most important applied research goal was characterization of the natural history of the relation between genotype and phenotype in hereditary hemochromatosis and other iron overload disorders.
Three other important research objectives were development of an optimal approach to screening for iron overload ; analyses of the cost-effectiveness of screening ; and assessment of the ethical, legal, and social implications of screening.
To achieve these specific aims, two research studies were recommended as being of the highest priority : a multi-center, cross-sectional, population-based study of the natural history of iron overload and a multicenter, case-control study of patients with disease manifestations potentially attributable to hereditary hemochromatosis in primary care and subspecialty clinics.
Mots-clés Pascal : Hémochromatose, Héréditaire, Recherche scientifique, Etude multicentrique, Etude transversale, Analyse coût efficacité, Fer, Surcharge, Priorité, Déterminisme génétique, Homme, Etats Unis, Amérique du Nord, Amérique, Métabolisme pathologie, Enzymopathie, Biologie moléculaire, Génétique
Mots-clés Pascal anglais : Hemochromatosis, Hereditary, Scientific research, Multicenter study, Cross sectional study, Cost efficiency analysis, Iron, Overload, Priority, Genetic determinism, Human, United States, North America, America, Metabolic diseases, Enzymopathy, Molecular biology, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0018621
Code Inist : 002B22E03. Création : 31/05/1999.