Cross-posted from the Bill of Health blog.
Genetics research often pushes the boundaries of science, and by the far-reaching nature of genetic information, pushes us out of our comfort zones to consider new psychosocial, ethical, and legal scenarios. Conducting genetic testing on children arguably pushes our boundaries most. Yet, there can be medical benefits for some children, who may then be offered tailored medical care to match their risks. Children can also be indirectly affected by genetic testing, when they learn genetic information about themselves because a family member has had a genetic test.
We reviewed the literature to assess the psychological impact on children who have a genetic test for a heritable condition or who learn genetic information because a family member has a genetic test. You can read the article in Genetics in Medicine. There was surprisingly little data available, with only 13 studies of less than 1000 children, affected by varied conditions, across all age-groups, published worldwide. Serious anxiety, depression and distress was rare: children’s well-being was fairly stable before and after testing, and when compared with peers. Some children did experience serious difficulties though, and a substantial group experienced specific problems (for example, worrying more about their health than other children).
We also reviewed relevant clinical guidance, which warns of many potential problems, including exposing children to potential discrimination (e.g., in education, insurance, employment), guilt and self-blame, family disruptions and social isolation [1]. There were also concerns about incidental findings (where the test finds an unexpected health threat, causing unanticipated distress) and about testing for conditions for which there is no effective intervention before adulthood. Ethical/legal concerns about protecting the child’s privacy and their right not to know (RNTK) are also important [2]. In the case of children, their RNTK may go one step further, to possibly having a right not to even be made aware of potential genetic risks during early childhood. There are also questions about children’s understanding of genetic information, given that many adults struggle to understand the complexities of heredity and genetics.
The lack of hard data on severe negative impacts stands in contrast to the available clinical and ethical guidance. This lack of negative findings may reflect children’s resilience in genetic testing; most adults who have a genetic test seem to adapt well in the long term [3]. Alternatively, research to date may have measured the wrong things. Studies have focussed on ‘traditional’ outcomes (anxiety and depression), and do not explore the unique experiences of learning genetic information in childhood. Also, given that the studies needed parental consent for the child’s participation, families experiencing problems might not have consented and wouldn’t be represented in the findings. Other parents completed proxy measures on their children’s behalf, and we know that parents’ reports do not match their children’s. Most studies also did not follow children long term: as they grow through adolescence, choose a life partner and consider starting a family (time-points which may trigger new concerns about their genetic status). There are also many tests which have not been studied at all, including the ‘brave new world’ of genomic testing.
We do not yet have enough evidence to guide policy surrounding genetic testing and children. Despite more than 20 years of genetic testing, too little data is available on children. This research is hard to do. Clinicians, researchers and ethics boards can be nervous to include children in research and have difficulties choosing the right research questions, the right timing of assessments, and the right research design. It is also unlikely that studies will secure a fully representative sample when parental consent is (rightly) needed for children’s participation.
Until more data becomes available, it is too early to declare genetic testing ‘safe’ for children. Genetic testing should be considered only in cases where there is clear medical benefit to outweigh potential harms [2]. With increasing availability of new screening and intervention measures which are not yet fully evaluated, even deciding whether there is a potential medical benefit can be difficult. These factors are therefore best weighed up with experienced healthcare professionals providing support to the whole family. Escalating genetics research investment means that genetic tests will be considered for growing numbers of children. It is therefore critical to continue the conversation about the psychological, ethical and legal implications of placing children in a situation where they learn genetic information before they are able to give fully informed, independent consent.
References
We reviewed the literature to assess the psychological impact on children who have a genetic test for a heritable condition or who learn genetic information because a family member has a genetic test. You can read the article in Genetics in Medicine. There was surprisingly little data available, with only 13 studies of less than 1000 children, affected by varied conditions, across all age-groups, published worldwide. Serious anxiety, depression and distress was rare: children’s well-being was fairly stable before and after testing, and when compared with peers. Some children did experience serious difficulties though, and a substantial group experienced specific problems (for example, worrying more about their health than other children).
We also reviewed relevant clinical guidance, which warns of many potential problems, including exposing children to potential discrimination (e.g., in education, insurance, employment), guilt and self-blame, family disruptions and social isolation [1]. There were also concerns about incidental findings (where the test finds an unexpected health threat, causing unanticipated distress) and about testing for conditions for which there is no effective intervention before adulthood. Ethical/legal concerns about protecting the child’s privacy and their right not to know (RNTK) are also important [2]. In the case of children, their RNTK may go one step further, to possibly having a right not to even be made aware of potential genetic risks during early childhood. There are also questions about children’s understanding of genetic information, given that many adults struggle to understand the complexities of heredity and genetics.
The lack of hard data on severe negative impacts stands in contrast to the available clinical and ethical guidance. This lack of negative findings may reflect children’s resilience in genetic testing; most adults who have a genetic test seem to adapt well in the long term [3]. Alternatively, research to date may have measured the wrong things. Studies have focussed on ‘traditional’ outcomes (anxiety and depression), and do not explore the unique experiences of learning genetic information in childhood. Also, given that the studies needed parental consent for the child’s participation, families experiencing problems might not have consented and wouldn’t be represented in the findings. Other parents completed proxy measures on their children’s behalf, and we know that parents’ reports do not match their children’s. Most studies also did not follow children long term: as they grow through adolescence, choose a life partner and consider starting a family (time-points which may trigger new concerns about their genetic status). There are also many tests which have not been studied at all, including the ‘brave new world’ of genomic testing.
We do not yet have enough evidence to guide policy surrounding genetic testing and children. Despite more than 20 years of genetic testing, too little data is available on children. This research is hard to do. Clinicians, researchers and ethics boards can be nervous to include children in research and have difficulties choosing the right research questions, the right timing of assessments, and the right research design. It is also unlikely that studies will secure a fully representative sample when parental consent is (rightly) needed for children’s participation.
Until more data becomes available, it is too early to declare genetic testing ‘safe’ for children. Genetic testing should be considered only in cases where there is clear medical benefit to outweigh potential harms [2]. With increasing availability of new screening and intervention measures which are not yet fully evaluated, even deciding whether there is a potential medical benefit can be difficult. These factors are therefore best weighed up with experienced healthcare professionals providing support to the whole family. Escalating genetics research investment means that genetic tests will be considered for growing numbers of children. It is therefore critical to continue the conversation about the psychological, ethical and legal implications of placing children in a situation where they learn genetic information before they are able to give fully informed, independent consent.
References
- Patenaude, A.F., Psychosocial Aspects of Pediatric Hereditary Cancer Syndromes. Pediatric Psycho-Oncology: A Quick Reference on the Psychosocial Dimensions of Cancer Symptom Management, 2015: p. 65.
- Botkin, J.R., et al., Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. The American Journal of Human Genetics, 2015. 97(1): p. 6-21.
- O’Daniel, J., Genetic Testing, Psychological Implications. Encyclopedia of Behavioral Medicine, 2013: p. 847-849.
The Behavioural Sciences Unit is Proudly Supported by the Kids with Cancer Foundation.
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