Abstract for presentation at 11th International Congress of Human Genetics

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunological deficiency disorder characterised by thrombocytopenia, small platelet size, eczema, recurrent bacterial and viral infections, increased risk of autoimmune disorders and malignancies. We describe a family whose son was diagnosed with WAS and died in infancy twenty nine years ago. Prior to genetic counselling there was lack of communication between family members about the cause of death and secrets kept from at risk family members. We supported the family as the family secret was revealed and carrier testing and prenatal diagnosis was embarked on. The testing process was complex and involved X-inactivation studies and tests on archival material. Interpretation required results from multiple family members. We will explore the issues of family communication about genetic risk, the burden of family secrets, guilt, X-linked inheritance and the psychological impact on family members. The literature on information sharing and carrier testing of young at risk female family members and the role of the genetic counsellor in facilitating communication about genetic conditions will be discussed. Professional challenges for genetic counsellors working simultaneously with closely related clients and ethical issues about confidentiality and duty to disclose will also be explored.