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Genetic testing guidance suggests when to skip screening children

NEWS IN BRIEF — Posted March 4, 2013

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As genetic testing becomes increasingly common, new guidelines recommend that decisions on whether to offer such testing to children should be driven by each child’s best interest.

When genetic testing is conducted, it should be accompanied by genetic counseling by a health professional with expertise in that area, according to the guidance, issued by the American Academy of Pediatrics and the American College of Medical Genetics. The recommendations were published online Feb. 21 in Pediatrics, and the accompanying technical report was published online the same day in Genetics in Medicine.

The guidelines recommend against routine screening for gene mutations that can cause disorders when such testing does not provide health benefits in childhood. The guidance also cautions physicians against providing tests that predict future genetic conditions to patients younger than 18 without parental involvement. The results of such tests could have significant medical, psychological and social implications for the patients and their family members, the recommendations said (link).

The guidelines also strongly advise against using direct-to-consumer and home-kit genetic testing on children because of the lack of oversight on test content, accuracy and interpretation, said the report (link). To broaden physician knowledge in this area, the AAP and ACMG support expanding medical education training in human genomics and genetics for primary care doctors.

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