A joint policy statement released late last month by the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) recommends that the best interest of each child be the determining factor for offering and performing genetic testing. The two organizations are issuing updated recommendations now because of recent advances in genetic testing as well as the availability of some over-the-counter genetic tests that don't require a doctor's prescription or involvement.
"Given the rapid advances in genetics and genomics, pediatricians and other health care providers need to stay informed and updated on best practices," explains the policy statement.
Genetic testing involves looking at a person's genetic makeup for a variety of reasons, including to diagnose an inherited condition that can be a cause of current or future disease and to identify carriers who don't have disease but may pass it on to any children. It can be performed on a variety of samples, such as blood or saliva or cells collected with a buccal (cheek) swab. In newborns, it is typically done by pricking the baby's heel for a drop of blood that is used for multiple screening tests.
Some key recommendations from the policy statement include:
- Genetic testing should be done in a setting that allows a trained professional to interpret the results and advise on any needed next steps.
- Parents or guardians should be informed about the risks of genetic testing — such as incorrect results and the ramifications of a serious diagnosis — and their permission should be obtained. If it is appropriate, the child's permission should be obtained as well. For example, consent may be given by mature minors and adolescents.
- Both the AAP and ACMG support mandatory offering of newborn screening, programs that vary by state. The policy statement says that parents should be informed of the benefits and possible risks, next steps if a screening test is positive, and have the option to refuse the testing for their newborn.
- The organizations do not support school-based genetic testing, as in this setting it may not be perceived as voluntary and may not provide adequate counseling or sufficient safeguards for privacy and confidentiality.
- Testing to see if a child is a carrier of a genetic disease is generally not supported because it usually provides no benefit during childhood. Testing can be deferred until the child is old enough to understand what it means to be a carrier of a disease and give or withhold consent.
- The new guidelines say that tissue compatibility testing for minors of all ages is permissible to help immediate family members (for example, for medical needs such as a bone marrow transplant) but only after a thorough review of the physical and emotional impact on the child by someone not involved with the family ensures that the well-being of the child is considered and that there is no undue pressure to donate.
- When a genetic test is done, parents should be encouraged to share the results with their child when they are old enough to understand the findings.
- Both the AAP and ACMG strongly discourage the use of direct-to-consumer and home genetic tests because of concerns about the accuracy of these tests and the interpretation the test results.
Parents considering genetic testing for their child, or those whose children have been recommended to have genetic testing, should talk to their child's doctor. For additional resources, see A Guide to Navigating Genetic Testing. To learn more about the pros and cons of genetic testing, read the discussion in the article The Universe of Genetic Testing.
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Ross, LR et al. Technical report: ethical and policy issues in genetic testing and screening of children. ACMG Policy Statement. PDF available for download at http://www.acmg.net/docs/Genetic_Testing_in_Children_preprint_gim2012176a.pdf through http://www.acmg.net. Accessed March 1, 2013.
American Academy of Pediatrics. Policy Statement: Ethical and Policy Issues in Genetic Testing and Screening of Children. Available online at http://pediatrics.aappublications.org/content/early/2013/02/17/peds.2012-3680 through http://pediatrics.aappublications.org. Accessed March 1, 2013.
American Academy of Pediatrics. Press Release: AAP Issues New Guidance on Genetic Testing of Children, Feb. 21, 2013. Available online at http://www.aap.org/en-us/about-the-aap/aap-press-room/Pages/AAP-Issues-New-Guidance-on-Genetic-Testing-of-Children.aspx through http://www.aap.org. Accessed March 1, 2013.
MedlinePlus Medical Encyclopedia. Risks of newborn screening. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/007257.htm. Accessed March 1, 2013.