Pediatric Genetic Testing

DNA-based clinical testing is available for over 900 genetic diseases, and research-based testing is offered for hundreds of others. Such testing can aid in making diagnoses, assessing recurrence risks, and providing accurate prognoses. Often genetic testing is initiated prior to the onset of symptoms. This type of testing is known as pre-symptomatic or predictive genetic testing, and is typically offered for adult-onset diseases such as Huntington's chorea or certain types of cancer. Huntington's chorea, or Huntington's disease, is a progressive, fatal, neurological condition that affects movements and memory. Individuals who carry the gene for

Huntington's disease usually begin showing symptoms around age 40, though this can vary dramatically between individuals and families. The types of cancer that can be associated with inherited DNA mutations include breast cancer, ovarian cancer, and certain types of colon cancer.

Though DNA-based clinical testing has become a part of routine management for numerous diseases, it presents a unique set of circumstances that separate it from other types of testing. Since a number of genetic mutations are inherited from parents, testing either children or parents will often reveal increased risk for other family members. In the cases of autosomal dominant conditions such as Huntington's disease or Hereditary Breast and Ovarian Cancer syndrome, an affected parent has a 50 percent chance of passing on the defective gene to his or her child.

There are a number of ethical issues associated with the use of pre-symptomatic testing for adult-onset disorders. One important area of discussion focuses on whether genetic testing for these diseases should be initiated in children. Several professional organizations, including the American Academy of Pediatrics and the American Society for Human Genetics, have formal positions stating that children under the age of eighteen years should not undergo genetic testing for adult-onset disorders. The American Society for Human Genetics states: "if medical or psychological benefits of a genetic test will not accrue until adulthood, as in the case of ... adult-onset diseases, genetic testing generally should be deferred" (American College of Medical Genetics, pp. 1233-1241), and the World Federation of Neurology Research Group on Huntington's Chorea explicitly recommends not testing any minors.

These policies are driven by the argument that since these are adult-onset disorders for which there is no treatment or medical intervention during childhood, there is no medical benefit to testing. Additionally, children are unable to understand the complexities involved in the testing and therefore cannot provide informed consent. Testing these children, then, potentially could be seen as harmful, as it takes away their right not to know their genetic status.

Proponents of genetic testing in children argue that there are situations when the benefits of testing, either medical or emotional, outweigh the potential harms. This article will explore these arguments in detail, and present a proposal for appropriate use for predictive tests in children.

Pre-symptomatic genetic testing for adult-onset disorders typically involves a detailed informed consent process. This process can include discussions of the natural course of the disease, prognosis, risks to other family members, and treatment options. Some informed consent processes, such as the one outlined by the Huntington's Disease Society of

America, require a psychiatric assessment to determine how test results will be viewed, and what potential reactions might occur. This process can be lengthy and challenging for an adult, and would not be possible for a child. The question, then, is raised as to whether parents can consent for the pre-symptomatic genetic testing for children.

Medical decision making for adults is largely guided by respect for persons and autonomy, whereas in pediatrics it is guided by beneficence. With regards to adult medicine, medical decisions made by competent adults who have undergone an appropriate informed consent process are typically respected. In a pediatric setting, the parents traditionally have had the responsibility of medical decision making, where a competent adult is challenged to make decisions not for his or her own care, but for the child's. This is based on the assumptions that parents are typically interested in maintaining their children's best interests and safety; parents are in a position to know what those best interests are by virtue of knowing their children better than anyone else; parents usually must deal with the financial, emotional, and practical aspects of such decisions; and Western society typically has strived to maintain privacy and parental control within a family unit whenever possible. In other words, the autonomy of parents traditionally is respected as long as it supports the benefit of the child; the challenge then becomes balancing the rights of the children with the rights of parents.

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