The application of medical technology in the pediatric setting must serve the best interest of the child. Genetic testing of children and infants presents unique challenges. In contrast to the testing of adult patients, most children cannot understand the risks and benefits or provide informed consent. The American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) recently issued recommendations regarding genetic testing or screening of infants and children. In Ethical and Policy Issues in Genetic Testing and Screening of Children (“Report”), the AAP and ACMG review the scenarios in which genetic testing or screening of minors may occur and recommend best practices for such testing.
Genetic Testing of Children or Infants
The Report identifies seven scenarios wherein genetic testing of infants and children may occur:
(1) diagnostically, when a child has symptoms of a genetic condition or for therapeutic purposes;
(2) mandatory testing of newborn children;
(3) carrier testing in minors or pregnant adolescents;
(4) predictive genetic testing for children at risk of childhood onset conditions;
(5) tissue histocompatibility of minors to benefit immediate family members;
(6) in connection with adoption of an infant or child; and
(7) direct-to-consumer testing.
The Report notes that genetic testing of pediatric patients is best offered in the context of genetic counseling. In addition, parents or guardians should be informed of the risks and benefits of any testing. Permission of the parent or guardian must be obtained. Consent of the child also is recommended.
The AAP and ACMG recommend that predictive genetic testing of children for adult-onset conditions should, in general, be deferred until the child can grant permission for the test unless an intervention initiated in childhood may reduce morbidity or mortality. The Report also recommends that at the appropriate age, the child should be informed of any test results. Moreover, the Report notes that for ethical and legal reasons, health care providers should be cautious about providing predictive testing to minors without the involvement of their parents or guardians even if the minor is mature.
Finally, the AAP and ACMG strongly discourage the use of direct-to-consumer and home test kits because of lack of oversight, as well as potential accuracy and interpretation issues.
The Report, published on February 21, 2013, is available at this link and supplemental explanations and data can be found here.