Genetic testing and screening in pediatric populations.
It is conceivable that in the near future a family could present themselves to their health care provider and request to be tested for diseases X, Y, and Z, equipped only with a web page listing of disease-causing genes. The testing of children suggests subtle and controversial inherent conflicts, however. Decisions about whether to provide genetic testing become increasingly murky for a health care professional as the requests advance from testing a child for carrier status for an autosomal recessive disorder, to testing a girl for a sex-linked mutation, to testing an asymptomatic child for a susceptibility to a particular disorder. Although no single case can exemplify every variable and circumstance confronting health care professionals today, this case-based discussion of x-linked severe combined immune deficiency can serve as a framework to examine some of the potential dilemmas surrounding the testing of children for genetic disorders.
Davis
J
J
Pediatric Nurse Practitioner, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-1253, USA.
Krasnewich
D
D
Puck
J M
JM
D000293:Adolescent; D002353:Carrier State / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003657:Decision Making; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000517:prevention & control*