We have identified five main non-medical categories around which the concerns regarding psychiatric genetic testing in minors are based. These are 1) the psychological impact of testing, 2) its implications for autonomy and self-determination, 3) the implications of adopting a biomedical approach to psychiatry, 4) the use of financial and intellectual resources, and 5) the discriminatory effect of testing at-risk individuals. Under each non-medical category, we present the arguments in favour and against psychiatric genetic testing in minors discussed in the literature, before considering whether the current evidence suggests that this type of testing may be appropriate under some circumstances.
Psychological Impact
One of the most commonly referred to arguments regarding predictive psychiatric genetic testing in minors relates to the potential psychological impact of testing. The literature raises concerns that attributing a genetic basis to psychiatric conditions will increase stigma (Horstkötter, Berghmans, and de Wert
2014), which may disrupt social and family relationships. Thinking about our scenario, if Jack was found to carry the same mutation as his relatives, he may encounter disapproval, blame, or avoidance from friends, future employers, or health insurers (Nuffield Council on Bioethics
1998). This may be of greater concern if the genetic mutation in question led to susceptibility to other traits, such as antisocial behaviours, which may have implications in relation to the criminal justice system (Horstkotter et al.
2014). Identifying disease susceptibility in Jack could also change the way his parents perceive and relate to him (Erickson et al.
2014; Lee et al.
2015; Morley, Hall, and Carter
2004; Horstkötter, Berghmans, and de Wert
2014; Spriggs, Olsson, and Hall
2008). They may feel inclined to be overly protective of him (Appelbaum
2004), withdraw their affection (Florencio
2000), reduce their support of his aspirations, education, employment and relationship prospects (Corcoran, Malaspina, and Hercher
2005), or use him as the family’s scapegoat (Florencio
2000; Yeh, Morley, and Hall
2004). Given the familial nature of many psychiatric diseases, the stigma and blame associated with the condition may extend beyond the affected child, impacting on the broader family (Gershon and Alliey-Rodriguez
2013). Stigma may also affect an at-risk individual’s identity formation (Laegsgaard and Mors
2008). Identification of a mutation could undermine Jack’s sense of self and integrity (Nuffield Council on Bioethics
1998), lower his expectations about his future (Corcoran, Malaspina, and Hercher
2005), and reduce his self-esteem and self-confidence (Erickson et al.
2014; Morley, Hall, and Carter
2004).
Testing may also increase anxiety (Wilde et al.
2010; Wilde, Meiser, Mitchell, Hadzi-Pavlovic, et al.
2011a) if people overestimate their disease susceptibility or fail to comprehend complex concepts of genetic risk (Erickson et al.
2014), and a negative test result may cause false reassurance (Wilde et al.
2009). These misunderstandings are particularly problematic in children who may not have the cognitive capacities necessary to manage genetic information (Morley, Hall, and Carter
2004; Yeh, Morley, and Hall
2004). While a positive test result may be misinterpreted as a self-fulfilling prophecy, leaving no chance for risk-reducing interventions, a negative test result may be used as justification for not taking precautionary measures. In this way, tested individuals may feel discouraged from seeking help or legitimized in engaging in unhealthy behaviours, such as drug consumption or alcohol abuse (Wilde et al.
2013; Nuffield Council on Bioethics
1998). Anxiety may also trigger the development of psychiatric diseases, which could be viewed as an additional harm (Spriggs, Olsson, and Hall
2008).
However, some authors have proposed that performing psychiatric genetic testing in minors could actually reduce anxiety (Appelbaum
2004; Trippitelli et al.
1998). For example, Jack’s “experiential knowledge” based on his affected family members may lead him to perceive his risks as higher than his actual disease risk (Abel and Browner
1998; d’Agincourt-Canning
2005). Since a mutation-negative result would reduce his actual risk to that of the general population (1 per cent), testing may reduce risk-related anxiety. Anxiety may also be reduced in mutation-positive cases. On the one hand, identifying a causative CNV may create optimism in the possibility of taking action (Corcoran, Malaspina, and Hercher
2005). Of course, the capacity to act on one’s disease risk will depend on the degree of certainty associated with the result. Given the complex interaction between environmental and biological factors in psychiatric disorders, the test result will likely need to be combined with other data, such as a person’s family history and clinical data, to be informative enough to encourage agency. On the other hand, it is the limited role that genetic information alone will play in disease prediction (Appelbaum
2004) that undermines the argument that testing increases anxiety. This is because identifying a predisposing mutation would be less anxiety-provoking and have less impact on the identity of the minor compared with testing for a life-limiting condition or one that follows Mendelian inheritance, such as Huntington Disease (Newson
2009). The literature has also suggested that genetic testing may reduce the stigma associated with mental illness (Laegsgaard, Kristensen, and Mors
2009), validating them as “real” medical problems requiring intervention (Wilde et al.
2010), which may also shift responsibility for the disorder from the individual to their biological makeup (Erickson and Cho
2013).
Psychiatric testing may also have positive effects on family relationships. For example, allowing Jack to receive testing may encourage his family members to openly discuss the condition (Yeh, Morley, and Hall
2004). Parents, such as Jack’s, may also want to support their child and prevent them from suffering undue distress in the face of uncertainty. Knowing Jack carried a susceptibility CNV, might allow them to better understand their child’s behaviour if symptoms were to arise (Borgelt et al.
2014). They would also be reassured that they had not caused his condition and that they had sought help for him (Borgelt et al.
2014; Laegsgaard, Kristensen, and Mors
2009). Some parents believe testing would allow them to be better prepared to provide their at-risk children with a more protective environment, teach them resilience to counter risk factors, such as stress, and help them integrate their genetic information into their identity (Erickson et al.
2014; Wilde, Meiser, Mitchell, and Schofield
2011b). These considerations suggest parents may be motivated to have their children tested as part of what they consider to be “good parenting,” as identified in other contexts, such as caring for children who are terminally ill or desiring carrier testing in unaffected children ( Hinds et al.
2009; Vears et al.
2016, 1263). Providing their children with good care may improve the parents’ psychosocial well-being, which, in turn, may benefit the well-being of the family unit (Kattentidt-Mouravieva et al.
2014). Parents of children who received predictive testing for non-psychiatric conditions have displayed either reduced anxiety, from both mutation-positive and mutation–negative results, or felt closer to their children and better prepared to support them (Kattentidt-Mouravieva et al.
2014).
Autonomy and Self-Determination
Another argument frequently mentioned against genetic testing in minors in both the literature and international guidelines is that children and adolescents should be given the opportunity to decide for themselves whether they want to know their genetic information when they become competent to make autonomous decisions. Although this argument is generally evoked in response to parental requests for testing, rather than when a minor requests testing, it also applies to our scenario because accommodating Jack’s wish to be tested would undermine the “future autonomy” (Nuffield Council on Bioethics
1998) of an individual who is not yet self-determinant.
Yet the same appeal to respect for autonomy has been cited in support of testing. The above argument assumes that individuals suddenly become self-determinant when they reach the age of majority (often 18 years). However, as the Convention on the Rights of the Child describes, minors show “evolving capacities” (United Nations
1989, art 5) that should limit their parents’ right to make decisions on their behalf. Using this conceptualization of childhood, “minors” do not constitute one homogeneous group (Nuffield Council on Bioethics
2015). Rather, this “developmental nature” of childhood (Nuffield Council on Bioethics
2015) means some individuals below the age of majority have the intellectual capacity and the emotional maturity to make competent decisions for themselves. Unconditionally prohibiting testing fails to recognize that some “mature minors” (Dickens and Cook
2005) are self-determinant and can participate in the decision-making process (Corcoran, Malaspina, and Hercher
2005) before they reach the legal age of majority. This is particularly relevant in cases where minors are very aware of the nature of the psychiatric condition and the potential impact on their family. Interestingly, none of the papers discussed the fact that testing in minors (especially immature minors) removes the possibility of confidentiality relating to the minor’s genetic information, given that the result would be communicated to their parents.
In a study investigating psychiatric patients’, their relatives’, and medical and psychology students’ attitudes toward psychiatric genetic testing, most participants (77.6 per cent) agreed with the idea that everyone has the right to know their genetic risk (Laegsgaard and Mors
2008). If this ethical argument applied to minors, it would follow that children and adolescents should not only be involved in the decision-making process, but they themselves could demand to have access to psychiatric genetic testing. However, as there would be no legal backing for this demand, this would be a moral rather than a legal right.
The effect of testing on parents’ autonomous choices is also debated in this context. Those against testing have argued that once psychiatric genetic testing becomes an approved practice, public interest may raise societal pressure to screen for psychiatric illness. This could undermine parental decision-making authority, either coercing parents to have their children tested or labelling them as morally irresponsible if they do not (Horstkötter, Berghmans, and de Wert
2014). However, given the complexity associated with gene–environment interactions and the potential for benefit from this as our understandings of the interactions progress, parents may seek early screening to limit their at-risk children’s exposure to environmental risk factors (Hoge and Appelbaum
2012). In this way, testing may in fact enhance parents’ autonomous choices.
Implications of the Biomedical Approach
Some authors express concerns that taking a biomedical approach to psychiatry through the adoption of biomedical measures aiming to prevent development of psychiatric diseases could eliminate valuable personal traits from society (Nuffield Council on Bioethics
1998; Trippitelli et al.
1998), such as sensitivity, creativity (Mitchell
2000), or perseverance (Horstkotter et al.
2014). There are also concerns for a new eugenics movement (Laegsgaard and Mors
2008) which, by emphasizing the genetic causes of psychiatric illness, may degenerate into social policies similar to those seen in the twentieth century, where the socially “unfit” were eliminated to improve the “genetic stock” of society (Hoge and Appelbaum
2012, 1548). For some, a biomedical approach risks promotion of genetic determinism where the contribution of biological influences is overestimated and the role of environmental ones is underestimated (Singh and Rose
2009), which may lead to medicalization of childhood (Conrad and Schneider
1992; Horstkotter et al.
2014).
However, Horstkötter and colleagues argue that the debate surrounding genetic testing for psychiatric disorders is “bio-exceptionalist” (2014) (from the term “genetic exceptionalism” (Green and Botkin
2003)), meaning it focuses on the potential ethical drawbacks of biomedical measures that will be developed in the future and neglects that the same ethical concerns also present with psychosocial measures currently in use. In this way, the current debate overlooks the empowerment that genetic knowledge may provide to tested individuals. Such knowledge could increase their preparedness to “fight the disorder” (Laegsgaard, Kristensen, and Mors
2009), allowing them to adopt a proactive approach, by seeking information and implementing lifestyle changes to prevent disease development. If they develop signs of the condition, they may better understand themselves and their situation and seek early interventions (Erickson et al.
2014; Wilde et al.
2009; Lee et al.
2015). Empowerment may also be derived from the freedom from responsibility for developing the disease (Spriggs, Olsson, and Hall
2008; Erickson et al.
2014). Furthermore, advances in psychiatric genetics have the potential to result in a broader conception of one’s self, one’s potential, and the positive traits that can be associated with mental illnesses (Singh and Rose
2009). The challenge is to identify strategies that would encourage at-risk people’s appreciation of themselves and protect them from the debilitating effects of mental illnesses.
This perspective echoes Robertson and Savulescu’s idea of the “value of genetic knowledge,” in which they propose that current medical guidelines conceptualize benefits of testing in minors too narrowly (Robertson and Savulescu
2001, 42–43). Similarly, experiences of young people tested for conditions such as hereditary breast cancer, hereditary nonpolyposis colorectal cancer, and Huntington disease show that the knowledge gained through testing was preferential to the previous uncertainty, was perceived as empowering, and was the “missing piece” for their identity formation (Mand et al.
2013), which may also provide a counter argument to the idea that testing will have a negative impact on the young person’s sense of self, as discussed above in the Psychological Impacts section. However, the results of psychiatric genetic tests alone are likely to be less certain than those for these non-psychiatric conditions.
Use of Financial and Intellectual Resources
The ethical debate around the use of a biomedical approach to psychiatry, as opposed to a psychosocial approach, also touches upon the way in which individual-based testing may affect society’s use of financial and intellectual resources in mental health. Supporters of testing have viewed identification of biological correlates to psychiatric conditions, and therefore validation of them as physical diseases, as an opportunity to increase government funding for mental health research (Wilde et al.
2010). However, there are concerns that increasingly describing psychiatric disorders in neurobiological terms may boost resources for research on biological interventions to the detriment of resources spent to improve psychosocial interventions, which have often proved to be very effective for patients’ recovery (Appelbaum
2017; Kong, Dunn, and Parker
2017). It should be noted, though, that the two kinds of interventions are not mutually exclusive; genetic studies can help us better understand the environmental causes of certain conditions, thus contributing to the development of more efficient psychosocial interventions (Viding
2004). This could therefore be viewed as a way to encourage “efforts to facilitate the integration of the biological and psychosocial models,” rather than as a reason to limit research on the neurobiological contributions to psychiatric disorders (Appelbaum
2017).
Some authors also hold concerns that the progressive elimination of people with mental illness will discourage researchers from conducting studies to benefit the mentally ill (Mitchell
2000). However, this would require a very accurate understanding of the role of biological mechanisms, environmental causes, and their interaction in the development of mental illness, as well as the development of very effective preventive pharmacological or psychosocial interventions. This requires a significant increase in intellectual resources devoted to address the burden of mental illness. Since our current understanding of mental illness is very distant from that objective and since mental health research is very much underfunded compared to other fields in medicine (MQ Transforming Mental Health
2015), this possibility is currently quite remote.
Discrimination
Discrimination has implications for both the individual and society as a whole. For example, Jack’s teachers, concerned about the development of schizophrenia in their student, might reduce his coursework or encourage him to make safer choices, ultimately limiting his opportunities to learn (Corcoran, Malaspina, and Hercher
2005). There are concerns that genetic test results may create a class of “unadoptable” children (Appelbaum
2004, 346), or that Jack’s future insurers or employers could use his positive test result to deny him health coverage or employment (Wilde, Meiser, Mitchell, Hadzi-Pavlovic, et al.
2011a). Medical centres generating genetic profiles for patients to provide information about medication responses could also use data for secondary purposes (e.g. information about the serotonin transporter gene which may be associated with depression) (Appelbaum
2004; Hoge and Appelbaum
2012).
Regardless of how legitimate these concerns may be, some have criticized them as examples of “genetic exceptionalism” as previously mentioned. According to these critiques, the result of a genetic test is in no morally relevant way different from or “inherently more specific, predictive, sensitive, or private” (Holm
2007, 1196) than other health information that people are required to provide, either when they purchase health insurance coverage or by their potential employers, and therefore, does not require special status (Green and Botkin
2003). Moreover, as Raithatha and Smith (
2004) show, information such as people’s sex or family history are already being used as a proxy for genetic data to calculate people’s health risks based on population studies. In other words, genetic testing is not a necessary condition for genetic discrimination, which means that people in situations similar to Jack’s could be discriminated against because of their family history of mental illness, regardless of whether testing takes place. There is already some evidence of this: in the early 2000s, three men’s employment contracts in the Hong Kong civil service were denied or terminated because they had a close relative suffering from schizophrenia (Wong and Lieh-Mak
2001). Therefore, the above arguments seem to be more of a criticism against genetic discrimination, rather than against genetic testing itself. Using this rationale, a genetic test that showed that an individual does not carry the genetic mutations that would place them at an increased risk of developing a certain condition could actually be beneficial (Appelbaum
2004).
Moreover, insurers have argued that disclosure of genetic test results for susceptibility to mental illness is necessary to increase the fairness and efficiency of the insurance system, by allowing for accurate calculations of people’s risks so that those with lower health risks are not asked to pay the same as those with higher risk (Appelbaum
2004). They also help insurers to protect themselves from the risk of “moral hazard,” where those who know themselves to be at increased risk seek health insurance while healthy people are discouraged from purchasing their coverage (Raithatha and Smith
2004; Appelbaum
2010).
Even so, it is unlikely that the availability of psychiatric genetic testing will drastically reduce the number of insurable and employable people because the logic behind insurance systems is to spread risk between many individuals (Appelbaum
2004). Indeed, in the United States, health insurers’ use of genetic information for discriminatory purposes, both in the health and employment settings, seems to be very rare (Hall and Rich
2000; Appelbaum
2010). Many countries, particularly in high-income settings, have now adopted laws, policies, and guidelines against genetic discrimination in insurance or employment contexts. For instance, in the United Kingdom, Jack’s confidentiality would be protected by the U.K. Government and Association of British Insurers’ Concordat and Moratorium on Genetics and Insurance (
2014), which prohibits health insurers from forcing their customers to disclose the results of their predictive genetic tests. However, because a) most of these measures are unable to cover all possible cases of discrimination, b) proving cases of genetic discrimination is often difficult, and c) awareness of existing laws does not seem to relieve people from the fear of being discriminated against, mechanisms other than legislation alone should be used to protect individuals (Wauters and Van Hoyweghen
2016). Another possible strategy could consist of better informing the various stakeholders, including insurers and employers, about the possibilities and limits of genetic testing (Joly et al.
2017), especially for conditions like psychiatric disorders where the environment plays an important role, in order to avoid cases of prejudice about mental illness and popular misconceptions about genetic information leading to discriminatory practices (Appelbaum
2004).
At the level of society, if psychiatric testing showed a higher prevalence of susceptibility to certain psychiatric conditions in some ethnic groups, there is concern this will lead to ethnic or racial discrimination. However, if a higher prevalence is identified, this could attract intellectual resources to address mental health issues in vulnerable groups, such as ethnic minorities or those in low socioeconomic areas, which are generally neglected in research contexts (Singh and Rose
2009).