Counseling and Genetic Predictive Testing in Children 2012

Author: A. Tibben
Submitted: Tuesday 26th of June 2012 02:45:04 PM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc2, qc3



The necessity of screening and testing children at risk brings along its own sensitivities. The natural wish of parents is to ensure the safe and normal development of their offspring. However, in families at risk of genetic diseases, the future of a child can be shadowed by the chance that life may be shortened or adversely affected by the condition. Families who seek genetic counselling frequently wish to discuss the issue of telling their child about the condition in the family, and informing the child that they are at personal risk. This issue arises whether or not testing is available. The decision to tell may not be clear-cit, as the desire to inform the individual may be juxtaposed with reluctance to cause anxiety in the child (1). The general opinion among professionals is that testing for adult-onset disorders holds more potential for harm than for benefit (2). Testing is only justified if onset is expected in childhood or adolescence, and if treatment options are available. Testing removes the individual’s future right to make own decisions as an autonomous adult, it removes the confidentiality, expected for any adult undergoing the same test, and it may alter the upbringing and the pattern of relationships within the family ands with peers, with the inclusion of stigmatisation and discrimination. Hence, DNA tests for adult-onset diseases on asymptomatic children - at parental request - is generally not performed in most genetic centres. A family life overshadowed by the risk of a hereditary disease will obviously influence the way parents perform their parental tasks (3). An important task regarding their children is the establishment of a stable and safe environment for the family, which may become difficult if the parents fear the disease. They also have a task in explaining facts and circumstances of the grandparent’s disease and their personal risks, which requires openness and courage to discuss these issues with their children. Parents must be able to understand their children’s’ developmental capacities for coping with their risk and a disease and they must be able to express this understanding. They must assist in tolerating and expressing uncertainty and anxiety, and facilitate the change to new relationships and responsibilities. Having considered the tasks of parents and children, the tasks of the counsellor can be made more explicit. The counsellor can increase the awareness of how a hereditary disease has specifically affected every member of the family. He or she can help to further discuss the traditions, the myths, and the coping strategies in the family regarding the disease. The counsellor can help to explore the underlying motives of the test request and consider this in the light of the developmental and parental tasks. The counsellor can give clarity about the developmental issues and tasks of each member, and facilitate openness and nonreactivity (that is being able to listen, hear the emotions and considerations of the other without counteracting immediately). Such work might increase the cohesion in the family and lead to new, constructive, and creative ways to deal with the disease. It takes time, specific training and knowledge and much experience to be able to recognise and explore the specific themes in the family regarding their development. The themes and issues to be addressed include the individual beliefs, attitudes, and feelings about the disease and its impact in the family. Further, the impact on the current interactional framework of the family needs to be viewed. Subsequently, the way this framework is carried over into social contexts such as work, school, social life, and finally, what is the common theme that links to family legacies, loyalties, and traditions? Counsellors may benefit from the attainments of family system theory; education in the use of family dynamics could enrich their work (4). Test requests should be considered against the background of the specific age and role-related tasks that each member in a family with a hereditary disease has. The achievement of these tasks may have been extremely burdened by the occurrence of a specific disorder in the family. The test applicant’s motives should be explored to enable him or her to make an informed decision. The decision should be hold against the personal and family history and future. The decision must be understood as part of or reflection of the entire family and individual coping mechanisms regarding the risks and the disease. Reference List (1) Skirton H. Telling the children. In: Clarke A, editor. The genetic testing of children. Oxford: Bios Scientific Publishers, 1998: 103-111. (2) Clarke A, Flinter F. The genetic testing of children: a clinical perspective. In: Marteau T, Richards M, editors. The troubled helix: social and psychological implications of the new human genetics. Cambridge: Cambridge University Press, 1996: 164-176. (3) Fanos JH. Developmental tasks of childhood and adolescence: implications for genetic testing. American Journal of Medical Genetics 1997; 71(1):22-8. (4) Carter EA, McGoldrick M. The Expanded family life cycle: individual, family, and social perspectives. 3 ed. Allyn & Bacon, 1998.


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abstract Tibben_Counseling_and_Genetic_Predictive_Testing_in_Children_5199.pdf

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A. Tibben. Counseling and Genetic Predictive Testing in Children 2012. EUROGENE portal. June 2012. online:



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