Can Predictive Genetic Testing be Beneficial

There are potential benefits to pre-symptomatic genetic testing in children. From a parental standpoint, knowing the genetic status can help parents plan financially and emotionally for their child's future. A positive result may mean long-term care issues that can be offset by advanced financial planning. A parent who is afflicted with a genetic disease may seek comfort in knowing that he or she did not pass on the defective gene to a child, even if symptoms of that disease are years away. In the cases of Huntington's disease and certain types of cancer, an affected parent may not survive long enough for their child to reach adulthood, meaning the parent may die not knowing if their child will suffer a similar fate.

The child herself may be comforted by a negative result. There is a strong argument for the emotional benefit of being able to tell a child who is afraid of the disease of a parent that he or she is unlikely to develop the same disease. This is particularly true in an adolescent, who may have been able to identify his or her own risk through research, even if this information was never discussed at home or with a medical practitioner.

In addition, there are potential medical benefits to be considered. In the case of familial adenomatous polyposis (FAP), a familial colon cancer syndrome, colon cancer has been reported in children as young as ten years of age. Approximately 75 percent of those individuals carrying a DNA mutation associated with FAP will develop precancerous polyps before age twenty. In families where this disease has been identified, children of affected parents have a 50 percent chance of having inherited the mutation. For these children, a positive test result would mean a much more rigorous medical course, involving annual colonoscopies to monitor the development of polyps, and most likely a prophylactic colectomy in the future, both measures that could save lives. A negative test result would spare these children from such invasive screening, and reveal their lifetime risk of colon cancer to be that of the general population.

Though it is generally understood that children do not possess the competence to make medical decisions, the situation is less clear for adolescents. Obviously there is no perfect age that competence can be assumed, nor is there a minimum age at which it can be specified as absent. There are adolescents who are capable of engaging in the informed consent process and making medical decisions for themselves. One would hope that, when possible, the decisions of the parent would encompass conversation with the child or adolescent and involve the minor to whatever degree is appropriate for maturity, interest, and responsibility.

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