Genetic Testing and Counseling: The Feasibility of a Nationwide Intervention Program for the Prevention of Monogenic Diseases

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.