Feb 24 – The American Academy of Pediatrics (AAP) and American College of Medical Genetics and Genomics (ACMG) update recommendations for childhood genetic testing based on advances in genetic technology.
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In a released statement:
- The American Academy of Pediatrics (AAP) and American College of Medical Genetics and Genomics (ACMG) update recommendations for childhood genetic testing based on advances in genetic technology.
- The statement emphasizes the importance of ensuring parents and where possible, children, are well-informed and that genetic testing is performed in the child’s best interest.
While screening for genetic conditions was once limited to newborn testing, advances in genetic screening now make it possible to test both at-risk as well as asymptomatic, low-risk children for diseases later in life. The AAP and ACGM have released an updated policy statement regarding the role of genetic testing in today’s clinical environment.
Diagnostic testing should be performed with parental permission and, if possible, the child’s assent. All discussions should take place through a clinical geneticist. The groups support offering the required newborn screening that already exists, but do not endorse routine carrier screening. They encourage deferring testing for adult-onset conditions unless a therapeutic intervention in childhood exists or to alleviate psychosocial stress. When testing tissue compatibility for organ donation, they favor using a donor advocate. The groups believe adoptive parents should be informed of their children’s genetic risk factors. Use of direct-to-consumer genetic test kits are discouraged.
1. Testing children for adult-onset disease [Pediatrics]
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