ABSTRACT
The genetic testing of children is clearly appropriate when the onset of a condition occurs regularly in childhood, especially if there are useful medical interventions that can be offered. This chapter investigates retrospectively the consequences of carrier testing performed 8–12 years ago in families with X-linked muscular dystrophy, haemophilia A and B, and chromosomal translocations. Special emphasis is given to investigating the impact of carrier testing in childhood. The chapter aims to discover whether the carrier testing of children has caused any psychosocial changes and to find out how the children and their families experienced the testing and what they think about it today. The consequences of carrier testing in childhood have never before been systematically studied in the long term. There is no information about how people react if they have grown up knowing of their carrier status from childhood.
