Molecular Genetic Risk Screening

摘要: Under the impetus of Human Genome Project, new disease-associated genes are being discovered at a rapid pace. Mutations in many these present high enough proportion general population, or particular ethnic groups, that global targeted population screening can be contemplated. If performed early enough, identification mutations by molecular genetic testing used not merely to diagnose disease but predict risk future disease, either individual tested his her offspring. In some cases this knowledge rationale for heightened surveillance and/or preventive therapeutic interventions. Mass has already commenced cystic fibrosis and been discussed such diverse diseases as hereditary hemochromatosis, thrombophilias, familial cancer predispositions, pharmacogenetic factors. However, implementation programs is often impeded complexity gene mutations, incomplete penetrance, thorny ethical social issues. This chapter reviews basic criteria considered before embarking on screening, examines multiple disease-screening examples representing variety modes inheritance technical challenges.