Although substantial research exists on the impact of having a sibling with chronic illness, almost nothing is known about how the etiology of the condition influences a sibling?s experience. We lack insight into the experience of siblings, including their awareness of and concerns about the genetic nature of the disease, and their perceptions of the influence of the disease on their families. We have limited understanding of how their parents perceive genetic risks and communicate those risks. We also know little of what opinions adolescents in these families hold toward carrier testing, which despite recommendations is sometimes available. Lack of insight into these areas compromises both the interaction of genetic counselors and other health professionals with siblings and the basis of policy decisions regarding carrier testing for adolescents in these families. In this study, we propose to begin to explore these issues via telephone interviews with parents and adolescent sisters of individuals affected by Chronic Granulomatous Disease (CGD). Transcripts of interviews are being analyzed using template analysis, a commonly used qualitative analysis methodology. Responses of families with X-linked and autosomal recessive CGD will be compared. By providing insight into both adolescents? perceptions of the genetics CGD and how parents discuss genetic information, this study will help inform genetic counseling for siblings of individuals with CGD that can be applied to other X-linked and autosomal recessive conditions. As well, this study will generate insight into the influence of mode of inheritance on these issues.Families have been recruited through the Chronic Granulomatous Disease Registry of the Immune Deficiency Foundation. This registry is supported through an NIH contract for the purpose of providing a resource for clinical and laboratory studies of this rare disorder. The goal of the study is to interview 10 families each from both X-linked and autosomal recessive CGD families. To date, 21 individuals have been interviewed including 7 adolescent girls, 9 mothers, and 5 fathers. - Chronic Granulomatous Disease, Carrier testing, Genetic Testing - Human Subjects: Interview, Questionaires, or Surveys Only
