Variables that underlie cost efficacy of prenatal screening.
As genetic research and technology continues to expand, carrier testing for an increasing number of single gene disorders is becoming available. Tay-Sachs disease and cystic fibrosis are two common recessive conditions with large-scale health implications. Tay-Sachs disease was the first genetic disorder for which community-based screening efforts were utilized and has provided a foundation for the development of other screening programs. Cystic fibrosis testing, on the other hand, has additional complexities and the implementation of population-based screening has been under debate. The many issues (technical, educational, social, psychological and economical) which must be considered as preconceptional and prenatal genetic screening is incorporated into clinical practice are discussed here in the context of Tay-Sachs disease and cystic fibrosis.
Kinzler
Wendy L
WL
Department of Obstetrics, Gynecology and Reproductive Science, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School/Saint Peter's University Hospital, New Brunswick 08903, USA. kinzlewe@umdnj.edu
Morrell
Kristie
K
Vintzileos
Anthony M
AM
D003362:Cost-Benefit Analysis; D005260:Female; D005817:Genetic Counseling / Q000191:economics* / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005820:Genetic Testing / Q000191:economics* / Q000379:methods*; D017048:Health Care Costs; D006579:Heterozygote; D006801:Humans; D010353:Patient Education as Topic / Q000191:economics / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000191:economics* / Q000379:methods; D014481:United States