PEDIATRICS Vol. 58 No. 5 November 1976, pp. 757-764
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The Pediatrician and Genetic Screening (Every Pediatrician a Geneticist)

AAP Task Force on Genetic Screening

From time to time, the American Academy of Pediatrics has issued statements1-3 on the role of screening infants for certain types of hereditary disease. Although these statements remain valid in their broadest objective, some of the specific ways and means have altered with the passage of time. Moreover, society is now more concerned about genetic screening as a public endeavor with a potential not only for good but also for harm. There has been much debate about genetic screening-some of it informed, some of it emotional. In response to the growing concerns about genetic screening, the National Academy of Sciences (NAS) published a comprehensive report on the topic.4 Its recommendations are published as an Appendix to this statement. The American Academy of Pediatrics has convened a Task Force to consider the specific implications of the NAS report and its relevance for pediatricians and their associates. The Task Force's most important recommendation is that a standing committee be established to provide expert, ongoing advice on this pervasive and complex subject.

DEFINITIONS AND RATIONALE

Screening in the medical context can be informally defined as an investigation initiated for reasons other than in response to a patient's problem or request for help. The formal definition3-7 considers screening as "the presumptive identification of unrecognized disease or defect by the application of tests, examinations or other procedures which can be applied rapidly. Screening tests sort out apparently well persons who probably have a disease from those who probably do not." The screening may be large-scale, and encompass a whole population (mass screening); or it may be selective and directed at a high-risk subgroup.




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C. Scriver, C Laberge, C. Clow, and F. Fraser
Genetics and Medicine: an evolving relationship
Science, May 26, 1978; 200(4344): 946 - 952.
[Abstract] [PDF]