Many genetic markers that relate to common multifactorial disease in adults have been identified during the past 15 years.
Their use as adjuncts for the diagnosis, prognosis, prediction of disease or targeting therapy for these disorders has begun, good examples being the Factor V Leiden mutation for venous-thromboembolism, lipoprotein lipase mutations for hypertriglyceridaemia and the apolipoprotein E4 variant for Alzheimer's dementia.
However, extensive gene-gene and gene-environment interactions make their use more complex than markers for the simpler monogenic disorders (such as cystic fibrosis, or Duchennne's muscular dystrophy).
Possible misapplication of the genetic markers for multifactorial disease in the fields of risk prediction, direct sales to the public, life assurance, employment rights, and legislation for regulation of their use are discussed.
Mots-clés Pascal : Polygénique, Maladie, Facteur prédictif, Marqueur génétique, Dépistage, Diagnostic, Aspect social, Article synthèse, Homme, Génétique, Héréditaire, Marqueur, Prévention
Mots-clés Pascal anglais : Polygenic, Disease, Predictive factor, Genetic marker, Medical screening, Diagnosis, Social aspect, Review, Human, Genetics, Hereditary, Marker, Prevention
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0234199
Code Inist : 002B23A. Création : 16/11/1999.