banner by Sareena Fayaz and Amanda Nichols
Genetic Testing on Minors: A Boon or a Curse?
by Nithya Narayanan
An eight-year old child walks into the doctor’s office, hand in hand with their parent. You might think that they have a cold or are anticipating to receive a benign shot, but instead, this child is waiting to learn if they will live past the age 30. This imaginary child is about to receive the results of a test for the presence of the gene that causes Huntington’s disease, a fatal neurodegenerative disorder. Genetic testing is a topic that is hotly debated by medical professionals and the case of using it for children raises a series of ethical and moral issues that must be addressed before proceeding.
As defined by the National Institutes of Health, genetic testing involves sequencing part of a person’s genome and looking for changes in the chromosome or genes known to be associated with a disorder. Generally, these genetic disorders fall into two categories: early onset, which affect children as young as 13, and adult/late onset, which affects adults beginning at the age of 30. Genetic testing can also be used to identify if a child is a carrier for a gene for a genetic disorder, which means that the disease could possibly be present in that child’s children, even if they do not personally develop the disorder.
Telling a child that they might develop breast cancer as early as age 13 because of the presence of BRAC1 gene in their genome is handing them heavy knowledge. The American Academy of Pediatrics (AAP) advises against performing genetic testing on children, except in cases where it is of medical necessity and in the best interest of the child. An example of such a situation is familial adenomatous polyposis, a form of colon cancer that develops as early as during the teen years. In this case, it might be recommended that a minor undergo genetic testing, so that the cancer can be detected and treated as quickly as possible.
The ethics of genetic testing become even more controversial when cast in the light of adult-onset disorders. Should a child be subjected to genetic testing if they are testing for diseases that will only affect them many years later? As aforementioned, conventional medical wisdom advises against genetic testing of children for conditions that have their onset in adulthood until the child is able to consider the ramifications of the decision to undergo testing. The child may also not be emotionally or psychologically ready to handle the results, as childhood and teenage years are vulnerable times for anyone.
As described by Dr. Laine Friedman Ross and her team in a 2013 paper for “Nature,” children who test positive for a genetic disorder may have an altered sense of “self,” and consequently, harbor feelings of unworthiness or guilt. The child might view their body and their own health differently, knowing that it holds the key to a genetic disease. Although parents and a child from a family with a history of genetic disease might want to end their uncertainty through genetic testing, the child’s relationship with their family might suffer because of the test results. In the case of a positive result, their parents might fall victim to “vulnerable child syndrome” and begin treating their child to be fragile before they even develop the disease. In contrast, a child may feel guilty for not inheriting the disease when a relative is suffering or have “survivor’s guilt” if the test returns as negative. To summarize, children may be unable to deal with the reality of having an incurable disease that could drastically shorten their lifespan.
Other family members such as siblings are also affected by results from genetic testing. One sibling may undergo genetic testing while the other chooses not to; the results of the testing, whether positive or negative, may reveal information that the non-tested sibling is not ready to deal with. As affirmed by Dr. Cara Mand of Monash University, all of the above effects form an enormous weight to put on any one person’s shoulders, let alone a child who has yet to gain the emotional and mental maturity to make or consent to life changing decisions. This psychological rationale forms the basis for prescriptions against genetic testing for adult-onset conditions in minors.
Despite these assertions by numerous pediatric agencies and psychologists, more empirical evidence needs to be gathered before making conclusions. Existing studies are either outdated or have suffered from limited sample populations. Although there is a need for more in depth and expansive studies, it is difficult to gather qualified and willing participants. It is easy to understand that the sample of children who have undergone predictive genetic testing, are accessible to the researcher conducting the study, and for whom consent can be obtained is small. Thus, there still a gap in our understanding of how many children exactly might be affected in the ways described above.
Even if studies were able to definitively prove whether genetic testing negatively impacts children, it is still a highly individualistic decision that should be decided on a case by case basis with advice from a genetic counselor. However, a decisive conclusion that genetic testing, in general, does not affect the psychological state of children could provide grounds for the AAP to reverse their recommendation and encourage parents and children to get tested. If a family has experience with the disease, the child and parents may be anxious about the child’s possibility of developing the disease and the certainty that testing can provide may outweigh the possible negative effects.
Given this discussion, can we as a society make a decision? Should a child be subject to the knowledge of a future disorder when it does not currently affect them? The debate about genetic testing has larger implications than just a simple test. Trying to answer only leads to more questions: Who wields the power to say yes or no? Does a doctor have a right to decline to condone genetic testing on a patient if, the doctor feels it is not in the patient’s best interest, but the parents are insisting? Should the need for informed consent from the child supersede the general authority given to parents to make decisions for their children?
While parents are generally acknowledged the authority in regards to their child’s healthcare, some young adults who undergo testing express regret their decision later in life, and say that they were not ready for the results. These are ethical questions that cannot be answered by any study, but they have profound implications for doctor-patient relationships, familial relationships and the way medicine is practiced.