Genetic Testing and Screening of Children: Ethics and Best Practices

04 March 2013 Personalized Medicine Bulletin Blog

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.

This blog is made available by Foley & Lardner LLP (“Foley” or “the Firm”) for informational purposes only. It is not meant to convey the Firm’s legal position on behalf of any client, nor is it intended to convey specific legal advice. Any opinions expressed in this article do not necessarily reflect the views of Foley & Lardner LLP, its partners, or its clients. Accordingly, do not act upon this information without seeking counsel from a licensed attorney. This blog is not intended to create, and receipt of it does not constitute, an attorney-client relationship. Communicating with Foley through this website by email, blog post, or otherwise, does not create an attorney-client relationship for any legal matter. Therefore, any communication or material you transmit to Foley through this blog, whether by email, blog post or any other manner, will not be treated as confidential or proprietary. The information on this blog is published “AS IS” and is not guaranteed to be complete, accurate, and or up-to-date. Foley makes no representations or warranties of any kind, express or implied, as to the operation or content of the site. Foley expressly disclaims all other guarantees, warranties, conditions and representations of any kind, either express or implied, whether arising under any statute, law, commercial use or otherwise, including implied warranties of merchantability, fitness for a particular purpose, title and non-infringement. In no event shall Foley or any of its partners, officers, employees, agents or affiliates be liable, directly or indirectly, under any theory of law (contract, tort, negligence or otherwise), to you or anyone else, for any claims, losses or damages, direct, indirect special, incidental, punitive or consequential, resulting from or occasioned by the creation, use of or reliance on this site (including information and other content) or any third party websites or the information, resources or material accessed through any such websites. In some jurisdictions, the contents of this blog may be considered Attorney Advertising. If applicable, please note that prior results do not guarantee a similar outcome. Photographs are for dramatization purposes only and may include models. Likenesses do not necessarily imply current client, partnership or employee status.

Related Services