Results of genetic tests may have a significant psychosocial impact on the family, as one family and the genetic nurse who worked with them report

Across the UK, there is a network of NHS genetic services to which families may be referred for a number of reasons, for example because of a family history of cancer or to seek a cause for their child’s developmental delay. In the past, advice might have been based solely on a clinical diagnosis, but new technologies often now enable a definitive diagnosis of a genetic condition to be made, based on genetic or chromosome testing. This information may have a significant psychosocial impact on family members. Grief and feelings of guilt are frequently described by parents. The use of genetic testing for diagnosis is increasing, but it is the exchange of information between families and clinical practitioners that forms the crux of the work of the genetic services. Genetic nurses and counsellors believe that an important component of their role is to provide psychological support to families as they adjust to that information and sometimes have to make difficult decisions (Skirton et al 1997). This case study has been written as a co-operative project between one family and the genetic nurse who had clinical contact with that family. The story starts 25 years before the referral…