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There is little controversy about screening newborns for Mendelian disorders that have effective treatments (e.g., phenylketonuria). More-complex issues are posed by screening for genes that confer risk but not certainty of disease for which there is no prevention (e.g., type 1 diabetes).
To learn about the emotional impact of such testing, researchers recruited mothers of neonates from a larger study of autoimmune and environmental factors influencing the onset of type 1 diabetes. The population was separated into three groups: 38 infants with high-risk HLA-DRB1 polymorphisms, 73 with low-risk alleles, and 76 who did not undergo genetic testing. Mothers of high-risk infants later received face-to-face counseling and were invited into the en…