Updated On Feb 25, 2022
This information is meant to be used for educational purposes to inform providers, patients, and genetic service delivery stakeholders about genetics policy topics. Sharing of information, resources, or policy statements is no way an endorsement of stated positions by NCC.
Genetic testing of children raises additional ethical issues when compared to genetic testing of adults, such as issues of informed consent versus assent, as well as the minor’s rights of privacy, confidentiality, and autonomous decision-making in adulthood. As further discoveries about the genetic mechanisms of disease occur, this creates more discussion regarding pre-symptomatic, predictive, and carrier testing. Some articles with more information follow:
- “Ethical Issues in Pediatric Genetic Testing and Screening for Current Opinion in Pediatrics”
- “Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children”
- “Ethical Issues With Genetic Testing in Pediatrics”
- “Genetic Testing of Children”
These articles discuss ethical issues, like those found in the following situations:
- Marcy, who is 12, likely has a genetic condition. Her parents want her to have genetic testing to find out if she has it. Marcy tells the provider that she does not want testing. Should the provider do the test?
- Steve has a genetic mutation that increases the risk of developing colon cancer in adults. All of his children, who are under 10 years old, have a 50% chance of also having it. The genetic provider lets Steve know that she doesn’t recommend testing the children, as it wouldn’t change their medical management before the age of 30. She recommends that the children wait until they are 18 and, as legal adults, can choose to have testing themselves. Steve insists on having the test now. Should the provider do the test?
- Lucy and Bill have adopted a 2 year old boy, and want to have genetic testing done so they can understand what genetic conditions he may be at risk for, though he is currently asymptomatic and appears to be achieving all developmental milestones. Should the provider do the test? Does the provider have an obligation to try to find any blood relations of the child in the event that an actionable genetic condition is discovered?
For these examples, what factors could change your answer? Does it matter how mature the children are? Does the condition or the availability of treatment matter? Does whether symptoms will occur in childhood or if there are health implications for the child with the diagnosis such as surveillance or management affect your decision?
The resources below highlight policy efforts undertaken to address concerns related to this policy area. The first section highlights legislation and regulation (current and proposed) related to the policy area. The second section highlights written policy statements or positions from national provider organizations, as well as advocacy organizations, related to the policy area.
Legislation and Regulation
On a federal level, there are no laws or regulations that apply specifically to genetic testing in children.
Are you interested in learning what your state’s government or the federal government are currently proposing for either legislation or regulation? Check out Legislative/Tracking system for up-to-date information and subscribe to our Twitter channel to get the latest updates in your pocket.
Organizations working within the genetics community (national genetic organizations, advocacy organizations, etc.) have published positions on pediatric genetic testing. Explore these position statements below.