It is alleged that children who are genetically tested for an adult-onset diseaseⁱ may face a number of serious psychological harms regardless of whether or not they test positive for a genetic mutation. For instance, Wertz et al, claims that in families where a child returns a positive test result, he or she may be made a scapegoat who is abused by parents that are reminded of their own unacceptable traits.1 The authors also claim that genetic testing may result in harms to the child’s self esteem, harm to child-parent bonds and feelings of guilt (especially “survivor guilt” in those who test negative).

They are not alone in their concerns. Within the bioethical and medical literature a further number of psychological harms are said to eventuate if children are genetically tested for adult-onset diseases. These include: “vulnerable child syndrome”2; the individual “may feel doomed”3; parents’ attitudes towards the child may turn towards disappointment or rejection4; feelings of unworthiness and lowered expectations within the family1; and, anxiety may be generated by the child’s genetic status when it is known that the child will develop the disorder.5

Although a number of authors within the bioethical literature recognise that psychological harm may result as a consequence of testing children, very little ethical discussion has resulted.6 7 In the following discussion I examine in broader detail two serious psychological harms said to eventuate if children are tested for an adult-onset diseases and found to carry a genetic mutation: “limited horizons” and damage to the child’s self esteem.

Limited horizons

Wertz et al, state that the most common reason given to request testing is that parents can plan for their child’s future.1 However the authors point out that those parents usually envisage the benefits of a negative test result and not the potential harms that may come from a positive test result. They claim “planning for the future” may become “restricting the future” by shifting family resources away from a child with a positive diagnosis. Parents may not expect a child who tests positive for a genetic disorder with a shortened life expectancy to train for a profession. After all, it could be argued, why bother financing a child through expensive (and extensive) tertiary training if their disorder is expected to onset in mid adulthood, and so cut short their career? Such children grow up in a world of limited horizons and may be psychologically harmed even if treatment is subsequently found for the disorder.

The authors’ claim that the most frequent reason parents give in wanting genetic testing for their children is so that they can plan for the child’s future is both reasonable and understandable. Parents generally want what is best for their children and if a child is at risk for a condition that is manifest within the wider family, parents may sincerely believe that a test result confirming their child’s risk status (either positive or negative) is in the best interests of the child and family (even when the condition is both untreatable and unpreventable). This may be for a number of important reasons. Such knowledge may engender the fostering of openness within the family, presenting the child with the opportunity to grow up in knowledge of the disease and be able to adjust to the circumstances as they mature and begin to make important life goals. It may also resolve parental and family uncertainty, and allow for realistic expectations for the child’s future.8 “Planning for the future” may entail a number of different factors: it may involve financial security in the way of an insurance scheme or savings, financial support for education (high school and/or university study), the undertaking of various extra curricular training—musical, mathematical, sporting or academic—and, for parents, whether to have more children and when, how to allocate resources that are available to the family, whether to move closer to extended family or healthcare services, and decisions about work commitments (overseas travel, hours worked).

The authors worry though, that resources may be shifted away from children with a positive diagnosis, thus restricting their future options. Wertz quotes that several geneticists in an international survey reported that “parents had requested testing of children for the Huntington gene, in order to decide whether to save money for the child’s college education. If the child had the gene, the parents would not waste family resources”.9 Wright Clayton also raises a similar concern. She comments that a parent may request testing “with the expressed intention of not sending her child to college if she has the mutation because ‘it would be a waste of money’”.10 The fact that some—perhaps only a very small number of—parents may request testing to confirm whether or not they should save for the child’s education, may strike some as uncaring and callous. But if we believe that parents generally want to do what is in their child’s best interests then Wertz’s interpretation regarding the geneticists’ comments may be misleading. A parent may comment that they would not save for their affected child’s college education, intending instead to use that money to ensure that the child had a very positive and memorable childhood. One can imagine the parents who, knowing the child may only live until his or her early adulthood, devote their energies and resources into supporting and enabling the child’s self esteem and confidence, and providing the child with opportunities they may otherwise not have had. For instance, travelling the world, regularly spending more time with older extended family members, actively pursuing a child’s passions and hobbies, deciding not to send the child to boarding school, doing more together as a family, or simply spending more time with the child by limiting work hours.

In a study of parental attitudes regarding newborn screening (for phenylketonuria and Duchenne muscular dystrophy), the authors note that many parents stated “if they knew (the child had tested positive), they would try to give their child more opportunities when he was young in terms of travel or even quality time together”.11 One parent in the study commented, “when you hear that you’re not going to have your child at a certain point, then it changes you. That has nothing to do with discipline and those things, but it has a lot to do with quality of life and what you do with that child”.11

Rather than focus on the child’s long term future with respect to saving for their education parents may prefer to invest their finances and energies into making their child’s life as happy as possible whilst he/she is still young. When a child has inherited a condition that has passed down through the family, it is difficult to imagine decent parents calculatingly depriving the child of resources and opportunities. Surely it is more plausible to imagine that parents whose children are at risk of a disorder that will not develop until adulthood and for which nothing can be done to medically benefit them would overindulge their children rather than withdraw resources away from them.

Some parents may not expect a child who tests poorly in an academic exam to train for a profession, but that is no reason to prevent children from being tested for their academic aptitude. Likewise, some parents may not expect a child who is diagnosed with dyslexia to train for an academic profession, but that is not a reason not to test children for a learning disability. Of course one could respond that these are treatable conditions and adult-onset diseases currently are not. Testing for the former conditions offers the prospect of being able to resolve the child’s learning problems. In reply I suggest that the point of testing a child for a learning disability, their academic aptitude, or their genetic makeup (with regards to a late onset disease) is to benefit the child both now and in the future. We recognise that the ways in which we treat children now has important and significant implications for their future well being. Whilst we cannot prevent or cure many adult-onset diseases, the knowledge that comes from testing may benefit children and their families in many different ways and we should not ignore or underestimate those benefits.

Whilst there may be a few parents who would request testing of their children in order to distribute family resources away from them if an unfavourable test result eventuated, many more, I suggest, are likely to implement increased support and assistance for their children if they test positive. As the Genetic Interest Group report so succinctly comments; “Because a few parents may not have the best interests of their children at heart, or have a different perspective as to what those best interests may be, this is no reason to frame recommendations as if all children require protection from parents”.12

Wertz raises the harm of a “limited horizon” in order to strengthen her claim that we ought not to test children for adult-onset diseases. However there is little evidence to justify such a position, other than a few comments from several geneticists in an international survey of nearly 3000 genetic service providers. It is interesting to note that of the 2903 genetic service providers who completed this survey, a significant number of them (in Eastern Europe, Asia, Latin America and Southern Europe) thought parents should be able to have minor children tested for late onset diseases (Wertz 1998, p279, table 3).9 It is interesting because Wertz claims that parents may limit their child’s future by testing, yet a considerable number of geneticists throughout the world believe parents should be able to have their children tested, which may indicate that the limited horizon view is not widely supported by those expert in the field. For surely if professional geneticists’ believed that the parents who requested testing for their children were doing so to limit their children’s futures by withdrawing resources away from children, they would be very reticent about supporting parents who wanted their children tested.

Moreover as Sharpe notes, parents are the ones who are most suitably positioned to assess the social, economic and familial factors involved in making a decision about whether to have their children tested or not. Generally parents know what is best for them as a family.13 This view is also supported by Robertson and Savulescu, who state that “parents have privileged access into the child’s and family’s circumstances which clinicians lack”.8

If we take as reasonably accurate the view that parents generally have their children’s best interests at heart then, when they state that they want their at risk children tested because it would help them in planning their child’s future, we surely should listen carefully to such requests. It may well be that such requests are sincere and considered expressions of what is in the child’s best interests.

Damage to the child’s self-esteem

Clarke and Flinter claim that predictive genetic testing (PGT) of children could “affect the deepest levels of self-esteem”.14 Wertz et al, worry that a positive diagnosis may result in loss of self-esteem.1 The Clinical Genetics Society report concludes that “the potential harms caused by childhood genetic testing might include damage to the child’s self-esteem…”,5 and Bloch and Hayden claim that “the self-esteem and sense of worth of a developing child may be profoundly and negatively affected”.15

It is clear from these statements that the issue of children’s self-esteem in relation to PGT is an important one to consider. However none of the authors give any indication of what self-esteem entails, how a child’s self-esteem is damaged or lost as a result of a positive diagnosis, nor exactly what it is that would damage the child’s self-esteem. For instance, is it the knowledge and disclosure itself, or the way in which the child is subsequently treated by the family? The authors do not provide any evidence that children’s self-esteem may be damaged by the disclosure of genetic knowledge. It is simply assumed that this will occur if children are genetically tested.

What is self esteem and what does it mean to possess it? According to Rawls, self esteem has two important aspects; first, it “includes a person’s sense of his own value, his secure conviction that his conception of his good, his plan of life, is worth carrying out”. Second it “implies a confidence in one’s abilities, so far as it is within one’s power, to fulfil one’s intentions”.16 This position is similarly held by Coopersmith who asserts that a person who has self esteem believes in their own worthiness, and that this is expressed in their attitudes about themselves.17 He claims that when individuals with high self esteem face adversity, “they are less likely to have their confidence shaken than are persons who are fearful and unsure of their abilities” (Coopersmith, p248),17 and that “there is evidence that the child with high self-esteem is more active, enterprising, and competent” (p262).17

How might the knowledge that she carries the genes for a disease that will not develop until adulthood damage a child’s self-esteem? Perhaps those who object to testing of this sort worry that disclosure of such information may distort the way in which the child judges her own worthiness or value. In other words, she understands the knowledge to mean that she is unworthy in some particular way. Perhaps this may result in her having feelings of worthlessness because she views herself differently (negatively) to her other siblings or friends. Or maybe she will judge herself to be somehow blameworthy for the genes she carries which in turn may lead to feelings of low self-esteem.

However the child who feels shame, worthlessness or has little pride or value in herself or her abilities because of her genetic test result has not come to such a position independently. She will certainly be influenced by how important people in her life, such as her parents and siblings, react to the information, especially if their responses to the test result are negative or pessimistic. Thus the family environment is a crucially important factor in how the child comes to judge herself and her feelings of pride in her abilities and talents. It is significant to note that whilst the information given to the child is important,ⁱⁱ the ways in which the family responds and deal with the knowledge is critical for the young child’s developing self-esteem. If she feels valued, loved and secure and the knowledge simply becomes a part of her life then it is plausible to suggest that such a child will mature with high self esteem.

Children in families who are treated with respect, are accepted, and are the recipients of affection and support, are, I believe, less likely to experience a loss of self-esteem were they to be genetically tested for a hereditary condition. This is because they are situated in strongly supportive and caring environments where confidence in their abilities is nurtured. Where children grow up valued, respected for who they are regardless of their genetic inheritance and are shown affection and acceptance, then self-esteem flourishes and the child’s attitudes towards herself are positive and healthy. “The conditions of treatment associated with the formation of high self esteem are likely to be marked by high levels of activity, strong and independent convictions, and differences of opinion that contribute to self definition, provide social stimulation, and lead to increased communication between family members” (Coopersmith, p253).17 Where an inherited adult-onset disease is manifest in such a family, the ways in which the adults respond to the genetic knowledge has significant impact on how the children respond to it also.

This is neatly captured by Savulescu in a hypothetical conversation between Mrs Smith and Dr Jones.18 Mrs Smith challenges current practice regarding the appropriateness of genetic testing for her two children (Jane, aged 11 and John, aged 16 years), both at risk for Huntington’s disease. She says to Dr Jones,

We’ve always been open about Huntington’s in our family. Everyone’s been tested except Jane and John. Huntington’s nothing to be ashamed of. I think they should know what their life is going to be like… I want them to have the best life they can. But to do that they need to know something about themselves.

Open and honest communication between family members surely promotes rather than hinders the child’s self-esteem.

Koocher found that pediatric cancer patients who were able to discuss their fears and concerns about the disease and its implications were much more able to engage in the treatment process. They were also less anxious and had higher levels of self control.19 Gibbons states that “open communication allows the child an opportunity to discuss fears and apprehensions and therefore to relieve the burden of erroneous assumptions. The child can then be assisted to work through fears and to find more effective coping strategies”.20 Even though Koocher and Gibbons were discussing terminally ill children, their emphasis on the importance of open and honest communication with children about their illnesses is a valuable contribution to the issue of PGT of children. Communication with children about their illness—whether it is a terminal childhood illness they will likely die of, or an illness they will recover from, or their risk of developing a disease later—is important not only to prepare them for the treatment to follow (hospitalisation, invasive procedures, time away from family and friends), but because being honest with children is important and central for their developing self-esteem. It also powerfully conveys to the child that they are respected as an individual whose future well being is recognised and acknowledged.

CONCLUSION

A number of serious psychological harms are alleged to result if children are tested for adult-onset diseases, thus genetic service providers generally recommend that children not be tested. Some commentators are against testing of this kind altogether and others advise caution.

In this discussion I focused on two harms alleged to occur if children were tested for adult-onset diseases. Wertz et al, state that testing children to assist in planning for their future may actually mean restricting the child’s future in an adverse way. Parents may decide, upon a positive diagnosis, to withdraw resources away from their child. The authors refer to a geneticist who commented that several parents had requested testing so that they could make a decision about whether to save for their child’s college education. Such a request appears callous and uncaring. If most parents want what is in their child’s best interests then it seems unlikely that parents would request testing to determine whether saving for their child’s education was a waste of money that could be better spent on other children or themselves. I claim it is more likely that parents who request testing in order to plan for their child’s future do so to expand opportunities for their child. Genetic counselling and support that accurately and thoroughly sets out the known progression of a disease is far more likely to help parents make realistic plans for their children’s (future) lives, than lead to a withdrawing of resources and support from such children. Where professional support thought it likely that certain parents would withdraw resources away from their affected children, a decision to test may be appropriately withheld in the best interest of the child.

Secondly I considered the claim that testing children may result in their self-esteem being damaged by the disclosure of such information. I suggested that the child who is shown acceptance and respect, and is encouraged to communicate openly and honestly with her parents, comes to develop high self-esteem. Knowledge that one has tested positive may not damage the child’s self-esteem if she grows up always having known and been able to incorporate such knowledge into how she sees herself (in the same way that some children have always known that they were adopted and have come to accept that fact as a part of who they are). “Children with high self esteem appear to learn quite early that they must respond to the challenges and troublesome conditions they encounter” (Coopersmith, p261).17 Children who have developed high self-esteem, and are situated in supportive and empowering families are perhaps less likely to experience damaging of their self-esteem if they were tested and found to carry a genetic mutation. They may also be able to successfully incorporate such information into their own judgments about themselves.

In conclusion, whilst I do not suggest that all at-risk children should be tested for adult-onset diseases we ought to listen carefully to some parental requests for such testing because the putative psychological harms may not be as significant or likely as initially thought. This is because parents generally have the best interests of their children at heart and if they are properly supported and educated about PGT and the possible consequences, then the risk of psychological harms occurring may be ameliorated.