ABSTRACT
For some inherited conditions, such as balanced chromosomal translocations, it has been common practice in the past to test children born to known carriers to discover if they are also carriers. This chapter explores the long-term psychological consequences of testing children for balanced chromosomal translocations. It chooses to use qualitative research methods to examine: the impact of carrier status test results on the family, the children’s understanding of their carrier status when they were first given the information and the broader significance to families of their experiences of genetic counselling. The chapter aims to record family experiences of genetic testing and counselling and to explore the social or emotional impact of these experiences on the individuals involved. In many families, however, the optimum approach may be for ongoing, open discussion of the family’s genetic situation to be combined with a deferral of testing until the child is competent to make an informed decision on their own behalf.
