The cystic fibrosis gene: medical and social implications for heterozygote detection

JAMA. 1990 May 23-30;263(10):2777-83.


KIE: Heterozygote detection of the cystic fibrosis (CF) gene in the general population now is possible, and there are calls for immediate implementation of mass carrier screening. Given the large number of heterozygote carriers in the United States (approximately 1 in 25 whites), entrepreneurial interest is expected to be strong in what would be this country's most extensive genetic screening program. Wilfond and Fost review past American experiences and problems with mass screening programs for PKU and the sickle cell trait, and assess the potential for similar problems with a carrier screening program for CF. They stress the need for pilot studies before mass CF screening is implemented, and conclude with some procedural recommendations for avoiding the problems that accompanied earlier screening programs for genetic disease.

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Cost-Benefit Analysis
  • Cystic Fibrosis*
  • Decision Making
  • Economics
  • Eugenics
  • Evaluation Studies as Topic
  • Federal Government
  • Genetic Counseling*
  • Genetic Testing*
  • Goals
  • Government
  • Government Regulation
  • Heterozygote*
  • Humans
  • Industry
  • Infant, Newborn
  • Informed Consent
  • Mass Screening*
  • Physicians
  • Policy Making
  • Prejudice
  • Prenatal Diagnosis
  • Public Policy*
  • Reference Standards
  • Reproduction
  • Risk
  • Risk Assessment
  • Social Control, Formal
  • Stereotyping
  • Stress, Psychological
  • United States