Abstract
After the implementation of controls over epidemic and environmental
disorders and eliminating malnutrition and endemic diseases, genetic disorders
and birth defects are now emerging as a major health problem in technologically
developed countries (Khalifa, 1999). Genetic disorders and congenital
abnormalities occur in about 2%-5% of all live births, account for up to 30% of
pediatric hospital admissions and cause about 50% of childhood deaths in industrialized countries {Emery, 1995). The purpose of this paper is to present
systematic, critical review of literature and data sources pertaining to monogenic
diseases, to demonstrate the feasibility of the integration of genetic counseling
and testing into primary prevention programs in the United States and to
evaluate factors of cost savings based on Health Canada cost-benefit data and
monogenic disease incidence data in the United States. The prevalence, costs,
and prevention aspects of genetic counseling and testing make this a timely topic
to discuss as a major public health issue and warrant the advocacy of the
initiation of a nationwide preconception prevention program for the reduction of
monogenic diseases in the United States.
