Table 2. Comparison of Genetic Testing Guidelines from Relevant Professional Organizations.
| Organization | Genetic Testing Recommendations for Children | Genetic Testing Recommendations for Fetuses |
|---|---|---|
| American Medical Association1 | When preventive or therapeutic options are available, genetic testing should be offered and in some cases required. When no preventive or therapeutic options are available and onset is in childhood, testing is up to parental discretion. For conditions with adult-onset or carrier status, testing should not be performed unless the information is needed to prevent substantial harm in a family member, or the child will never reach mental capacity. | If prenatal diagnosis is performed, the principle of patient autonomy requires that all medically relevant information generated from a fetal test be passed along to the parents. |
| National Society of Genetic Counselors2 | Testing during pregnancy or childhood allows the parent, rather than the individual (fetus or child) being tested, to provide informed consent to proceed. Given that many at-risk adults may elect not to be tested, testing in pregnancy or during childhood should be undertaken cautiously. Parents should consider whether the decision to test should be reserved for the child to make upon reaching adulthood. | Testing during pregnancy or childhood allows the parent, rather than the fetus or child being tested, to provide informed consent to proceed. Given that many at-risk adults may elect not to be tested, testing in pregnancy or during childhood should be undertaken cautiously. Parents should consider whether the decision to test should be reserved for the child to make upon reaching adulthood. |
| American Academy of Pediatrics3 | Testing should not be offered in children unless there are immediate medical benefits (such as the availability of measures that can prevent the disease, delay its onset, limit its severity, or prevent secondary disabilities), or there is a benefit to another family member and no anticipated harm to the minor. Carrier status should not be offered to children and adolescents, with a possible exception for well-informed adolescents planning a pregnancy. | No relevant recommendations. |
| Institute of Medicine4 | Children should generally be tested only for genetic disorders for which an effective curative or preventive treatment exists that must be undertaken early in life to provide maximum benefit. Childhood testing is not appropriate for carrier status, untreatable childhood diseases, and late-onset diseases that cannot be prevented or forestalled by early treatment. | No relevant recommendations. |
| American Congress of Obstetricians and Gynecologists5 | Timely medical benefit to the child is the primary justification for genetic testing in children and adolescents. If the medical benefits are uncertain or will be deferred, the argument for testing is less compelling. If the medical or psychosocial benefits of the test will not accrue until adulthood (as in tests for carrier status or adult-onset disease), genetic testing generally should be deferred. | If pregnancies will be carried to term, consideration should be given to whether, as in the case of testing children, the decision to test should be reserved for the child to make upon reaching adulthood. Considerations should also be given to personal preference, that is, the interests individuals may have in terminating a pregnancy that may result in a life that they feel morally obliged or prefer not to bring in to the world. |
| American Society of Human Genetics and American College of Medical Genetics6 | Same as above. | No relevant recommendations. |
| National Human Genome Research Institute's Task Force on Genetic Testing7 | Genetic testing of children for adult-onset diseases should not be undertaken unless direct medical benefit will accrue to the child, and this benefit would be lost by waiting until the child has reached adulthood. | No relevant recommendations. |
American Medical Association, “Opinion 2.138—Genetic Testing of Children,” June 1996, at http://www.ama-assn.org/ama/pub/physician-resources/medical-ethics/code-medical-ethics/opinion2138.page; American Medical Association, “Opinion 2.12—Genetic Counseling,” June 1994, at http://www.ama-assn.org/ama/pub/physician-resources/medical-ethics/code-medical-ethics/opinion212.page; American Medical Association, “CEJA Report D-I-92—Prenatal Genetic Screening,” 1994, at http://www.ama-assn.org/resources/doc/code-medical-ethics/211a.pdf.
National Society of Genetic Counselors, “Position Statement: Prenatal and Childhood Testing for Adult-Onset Disorders,” 1995, at http://www.nsgc.org/Advocacy/PositionStatements/tabid/107/Default.aspx.
Committee on Bioethics, “Ethical Issues with Genetic Testing in Pediatrics,” Pediatrics 107, no. 6 (2001): 1451-55.
L.B. Andrews et al., Assessing Genetic Risks: Implications for Health and Social Policy (Washington, D.C.: National Academy Press, 1994).
American College of Obstetricians and Gynecologists, “ACOG Committee Opinion 410: Ethical Issues in Genetic Testing,” June 2008, at http://www.acog.org/~/media/Committee%20Opinions/Committee%20on%20Ethics/co410.pdf?dmc=1&ts=20120529T1309427522.
American Society of Human Genetics Board of Directors and American College of Medical Genetics Board of Directors, “Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents,” American Journal of Human Genetics 57, no. 5 (1995): 1233-41.
National Institutes of Health, National Human Genome Research Institute, “Final Report of the Task Force of Genetic Testing,” September 1997, at http://www.genome.gov/10001733.