Regardless of the genetics community’s comfort with their conclusions, and the pediatric community’s consensus (13) that testing in childhood inappropriately eliminates the possibility of future autonomous choice by the person and risks stigma and discrimination. Unless there is anticipated benefit to the child, pediatricians should decline requests from parents or guardians to obtain predispositional genetic testing until the child has the capacity to make the choice, a careful examination of their arguments shows that each of their three justifications for restricting testing is flawed. (A) Their autonomy-based justification for not testing children derives from a misunderstanding of the concept of autonomy. (B) There is little or no evidence supporting the postulated harms that are invoked to justify reigning policies. (C) Relevant evidence actually suggests that pediatricians and geneticists would benefit patients and their families by early testing of at-risk children and sharing the results. Together, these considerations suggest that geneticists should generally encourage early predictive testing of children and early communication of test results to the child in an age-appropriate way, although there might be a very few “clear-cut and exceptional circumstances” that could justify not testing in a particular case. I shall explain these thoughts one by one.
A. Autonomy-Related Concerns
Autonomy is the ability to govern oneself and guide one’s actions by one’s own commitments, goals, and values. Clearly, young children do not have this ability, so the autonomy of a child who lacks decisional capacity cannot be violated by testing the child without consent or assent. We recognize that autonomy is not at issue in medical decisions made on behalf of children whenever doctors and parents impose vaccinations, antibiotic injections or other treatment on children who may scream their opposition.1 Those who oppose genetic testing of children do, however, argue that parental requests for tests should be rejected because testing a child who lacks decisional capacity violates the principle of respect for autonomy by denying the future adult the opportunity to make the choice for her/himself. They argue that if the child’s genetic status is not tested and determined, then the future adult will have the option of deciding about testing.
This line of reasoning misses the most crucial factor in the decision. The child will be raised within a family that shares the experience of the genetic disease.2 Family members are afflicted, they suffer the disease burdens, and they share their worries about how the disease will progress and their dread of which additional loved ones will succumb. That environment is an unavoidable piece of the child’s inheritance. The decision as to whether to raise the child with knowledge or ignorance of her/his genetic status is one that the family must make. Either the testing is not performed and the child is raised without the family and the child having information about whether or not the child has inherited the mutation, or the testing is performed and the family raises the child in the context of knowing that the child has or has not inherited the mutation. Logically, there are no other options. And no child can avoid living through and being affected by the atmosphere in which such a decision needs to be made.
During the period when others must make decisions because the young cannot do so for themselves, those who are responsible for the wellbeing of children must make decisions on their behalf that reflect altruism rather than self-interest or irrational emotion. If there is a significant difference in the mental health implications of one course over the other, then the promotion of better mental health would be an important reason for parents to choose that course. In the situation of deciding about whether or not to pursue genetic testing of a child for an adult-onset condition, those who choose to leave the decision to the future adult are also actually choosing the course of raising the child in a cloud of dread and uncertainty about their genetic status. That, in itself, is a clear and certain harm.
Confidentiality is another autonomy-related concern raised by those who defend the consensus view. They argue that testing children for a genetic mutation violates confidentiality. It is true that confidentiality is a vital precept of medical ethics. It is a promise that the health care provider will not disclose information that has been shared under the expectation that it would not be divulged to others without the patient’s explicit permission. Confidentiality is critically important in clinical medicine because it encourages open dialogue with health professionals, and because without the assurance of confidentiality health professionals would be less likely to accomplish the good that they aim to achieve on behalf of their patients. Yet parents’ obtaining their child’s genetic test results does not violate the principle of confidentiality. When a young child is tested for a genetic mutation, the child is not choosing to conceal or reveal a secret. There is no disclosure of information that the child would only have given up under the promise of confidentiality. Parents decide to authorize taking a sample of their child’s blood and having a laboratory perform genetic tests as parents typically authorize such procedures for medical purposes. Also, it is, and should be, standard practice for parents to be provided with medical information about their children, because they need to use it in making decisions about their children’s health and well-being. Although one can imagine that some future adults might be unhappy that their parents know about their genetic status, parents’ obtaining that information as the result of a test performed in childhood does not involve any violation of confidentiality. Talk of violations of confidentiality in the context of pediatrics may sound significant, but, again, it betrays a misunderstanding of the concept, and in this context it is a “red herring.” Parental authority is the model for making medical decisions on behalf of children. This is a well-accepted social norm that is supported by our laws, and it is usually the most appropriate mechanism for making decisions on behalf of children. Parents are typically deeply concerned with their children’s well-being. Parents usually know their children best, at least better than most unrelated policy makers or medical practitioners. Parents also know themselves best. This consideration is important, because it enables parents to incorporate personal knowledge of their own skills, resources, and limitations into their decisions. Also, parents shoulder a very significant portion of the physical, economic, moral, and emotional burdens of the consequences of their decisions. Since they, far more than health care providers or policy makers, are the ones who will be living with the repercussions of their choices, the judgment should be theirs. Furthermore, in situations where different reasonable people can make different decisions, the parents’ decisions are most likely to reflect values and priorities that the child will share (14). Overriding the decisions of attentive, caring parents who have decisional capacity can only be justified by “clear-cut and exceptional circumstances” such as avoidance of a very likely and significant harm.
B. Harms
The genetics community lists the “unbearable certainty of knowing,” damage to self-esteem, survivor guilt, and injury to the family dynamics as harms that are consequent to genetic testing of children. Although there are differences between children and adults, the evidence at hand is that when adults are tested, regardless of the result and after a relatively brief period of adjustment, they are not harmed by having the information (15, 16). Recently, Duncan et al. did a survey of clinical geneticists, to muster evidence for such psychosocial harms among children, because, according to their survey of the literature, no previous studies had documented such outcomes (12). They reported on 301 responses between June and September 2003 to their web-based questionnaire; the responses provided details of only 49 cases in which the testing of minors had been performed. Defining “adverse event” very broadly as “any outcome that is potentially negative for the individual involved,” they noted that “in three cases parents experienced clinically significant anxiety related to how they would pass on information to their gene positive child.” The other two reports of adverse events were experienced by two of the 26 mature minors who received test results. A 17- year-old male who was told that he had an increased risk for HD displayed “initial depression and rebellion but eventual acceptance.” A 17-yearold female who was told that she had a decreased risk of HD showed “no psychological disturbance but worry and responsibility for affected mother and untested brother.”
Not to diminish or discount these discomforts in any way, it is, however, important to remember that it is common and reasonable to consider untoward effects in the context of beneficial effects. The upset and discomfort of the vaccinated child is evaluated in the context of the immediate and distant risks and pains that are prevented for that child and for others. And in comparing positive and negative outcomes we have to recall the kinds of lessons that Jeremy Bentham taught long ago, and avoid oversimplified calculation (17). There can be important differences in the certainty of the outcome, the intensity of the reaction, the duration, the likelihood of it being immediately combined with some additional positive or negative outcome, or being followed by other positive or negative outcomes. We have to consider the likelihood and extent of positive outcomes in order to justify foreseeable negative outcomes. If there are no direct positive psycho-social outcomes of testing children for an adult-onset genetic disease, then a small risk of an adverse outcome has to be considered in light of the importance of defending parental discretion. That said, the adverse events reported in the Duncan study hardly amount to harms that are significant or likely enough to justify a policy that denies testing.
Nevertheless, the most significant finding of the Duncan study is that clinicians continue to endorse the testing guidelines. There is a further result that can be gleaned from the study that the authors do not seem to notice. Although the survey was sent (and re-sent) to clinical geneticists in the US, the UK, and Australia, the anonymous respondents reported only 22 cases of the testing of immature children and 27 cases of the testing of mature children. These very low numbers of tests suggest that, to a very significant extent, the guidelines have become a standard of care. They actually govern the behavior of clinical geneticists and they inhibit the testing of children. This result in turn raises the question of whether medicine is justified in adopting a standard of care that is not supported by evidence.
Furthermore, we know that children and their families can and do cope with tragic genetic information without being devastated by the news or overcome by the burden. Children adapt to obvious familial disorders, such as hemophilia, that may afflict them in childhood. Children with terrible and handicapping conditions, such as paralysis, diabetes, or epilepsy, are also able to accommodate to that information. In that light, it is reasonable to ask whether the “unbearable certainty of knowing” is a credible concept or a genuine harm that should count as a reason for refusing to provide genetic testing. Again, children can and do cope with serious and even fatal diagnoses of diseases such as cancer, end-stage organ failure, and AIDS.
Answers to all your Biology Questions
