“Family Matters”: A Conceptual Framework for Genetic Testing in Children

• Published in: Journal of genetic counseling 2004-02, Vol.13 (1), p.9-29
• Main Authors: McConkie‐Rosell, Allyn, Spiridigliozzi, Gail A.
• Format: Article
• Language: English
• Subjects: Adolescent; Bioethics; Child; Children & youth; Decision making; Families & family life; Family Health; Family Relations; family system theory; Genetic counseling; Genetic Counseling - ethics; Genetic Counseling - methods; Genetic Diseases, Inborn - diagnosis; Genetic disorders; Genetic testing; Genetic Testing - ethics; genetic testing in children; Genetics; Humans; Medical personnel; Minors; Parents & parenting; Personal Autonomy; Professional ethics; Society; Stress, Psychological; System theory
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1023/B:JOGC.0000013379.90587.ef

Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrated. Because of the difficulty in determining a psychosocial benefit, the discussion about genetic testing of minors ultimately tends to focus on who has the right to make the decision and whose right to autonomy is jeopardized, the parent's or the child's, when there is no identified medical benefit. Historically, a western bioethics paradigm, Principlism, has been used to guide genetic counseling sessions and genetic‐testing guidelines for minors. This bioethics paradigm is guided by the principles: respect for autonomy, beneficence, nonmaleficence, and justice. Genetic testing in children, when viewed through a traditional bioethics filter is limited by its focus on the individual because children are not only individuals, they are also integral parts of a larger social context, that of their family. Because this bioethics paradigm places a strong emphasis on individual autonomy, the family's beliefs and values and the parents' concern for their children may be overshadowed by the medical community's attempt to preserve the child's “right” to an autonomous decision about genetic testing. The purpose of this paper is to first discuss the circumstances in which genetic testing of minors occurs and then present a theoretical and ethics‐based conceptual framework that may be useful in the development of genetic counseling interventions.