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PEDIATRICS Vol. 110 No. 2 August 2002, pp. 360-363

Attitudes of Pediatric Residents Toward Ethical Issues Associated With Genetic Testing in Children

Ami Rosen, MS*, Sylvan Wallenstein, PhD{ddagger} and Margaret M. McGovern, MD, PhD§

* GeneCare Medical Genetics Center, Atlanta, Georgia
{ddagger} Departments of Biomathematics
§ Human Genetics and Pediatrics; Mount Sinai School of Medicine, New York, New York

Objective. To assess the attitudes of pediatric residents toward molecular genetic testing and some associated ethical issues that accompany its use in pediatric patients.

Methods. A questionnaire study of pediatric residents (n = 160; response rate: 40%) enrolled in training programs at 3 New York metropolitan area hospitals was designed to determine their attitudes toward genetic testing in children and adolescents. The study instrument presented 2 clinical vignettes that described scenarios where a pediatric patient was at risk for being affected with or a carrier of a genetic disorder. Residents returned the questionnaire anonymously.

Results. Most pediatric residents recognized the importance of educating family members (95%) and at-risk individuals (89%) about the inheritance pattern of the disorders they were at risk for. However, a substantial number would order predictive testing for Huntington disease in a child at the request of a parent (39% at age 10 and 52% at age 17), and more than half would order fragile X carrier studies on the cognitively normal sister of an affected male (56%).

Conclusions. An effort must be made to educate all physicians during their residency training about the ethical issues associated with genetic testing. For pediatric residents, such education must include instruction on the complexities associated with offering such testing in this age group.

Key Words: pediatric resident education • genetic testing • genetic screening • ethics

Abbreviations: PGY, postgraduate year

Received for publication Oct 29, 2001; Accepted Mar 6, 2002.


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