Ethical issues with genetic testing in pediatrics

Pediatrics. 2001 Jun;107(6):1451-5. doi: 10.1542/peds.107.6.1451.


Advances in genetic research promise great strides in the diagnosis and treatment of many childhood diseases. However, emerging genetic technology often enables testing and screening before the development of definitive treatment or preventive measures. In these circumstances, careful consideration must be given to testing and screening of children to ensure that use of this technology promotes the best interest of the child. This statement reviews considerations for the use of genetic technology for newborn screening, carrier testing, and testing for susceptibility to late-onset conditions. Recommendations are made promoting informed participation by parents for newborn screening and limited use of carrier testing and testing for late-onset conditions in the pediatric population. Additional research and education in this developing area of medicine are encouraged.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Ethics, Medical*
  • Genetic Carrier Screening / methods
  • Genetic Techniques / standards
  • Genetic Testing / standards*
  • Guidelines as Topic / standards
  • Human Genome Project
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening / standards
  • Pediatrics / standards*