Geneticists often state the principle that we are an amalgam of our genes and our environment. In other words, the adult someone ultimately becomes is the product of both her genetic inheritance and the conditions and influences of her life. While there is currently nothing that we can do to alter someone’s genetic endowment, we can take steps to modify the environment in which a child is raised so as to optimize her accommodation to her genetic heredity and diminish the risk of confounding the problem. The possible benefits of doing so make it ethically important to avoid psychological traps and make policy decisions about genetic testing of children based on available information and sound reasoning.
An important principle in ethics is that honesty is usually the best policy. Another is that knowledge is usually better than ignorance. Both of these precepts are obviously applicable to the question of whether children should be tested for adultonset genetic disease. They point to the conclusion that such testing should be done.
In addition, the arguments that have been advanced to oppose testing seem unpersuasive when they are carefully examined. (A) The appeal to autonomy is baseless and confused. (B) There is no evidence of harm from disclosure. And (C) the claim that there are no benefits to be had from early testing and early informing is based on an unjustifiably narrow view of benefits that actually ignores factors that the AAP considers very significant in other contexts.
All of these factors, taken together, lead me to a conclusion that is diametrically opposed to the policies and guidelines of the genetics and pediatric communities. Based on the considerations I have outlined above, and the models of well-reasoned position statements on similar issues of testing and disclosure, I conclude that pediatricians and geneticists should encourage parents to pursue genetic testing of children at a young age. They should also strongly recommend the involvement of genetic counselors for the education and support that they could offer. Furthermore, they should strongly advocate for early disclosure of test results, show understanding of the anticipatory fear that parents are likely to experience, and provide guidance to help parents learn to speak openly with their children about their genes. Ultimately, however, because parents are in the best position to assess their own emotional state and ability to cope with the test results, because of the social importance of yielding to parental discretion, and the fact that the future is long, I would advise doctors to leave the actual decision to parents.
The fact that so many thoughtful and well-intentioned authors of medical policies have reached erroneous conclusions on this issue tells us that the power of affective forecasting makes it very hard to see the light. Pediatricians and geneticists should encourage reluctant parents to have their children tested—and then accept the parents’ decision.
Footnotes
1Although those who hold the reigning view might invoke imminent risk to justify medical treatment and some vaccinations that they see as a violation of patient autonomy, the justification does not work when the low prevalence of an infectious disease makes contagion and risk unlikely.
2Adopted children will be the obvious exception.
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