Feasibility of Collecting Disease Reports from Relatives for Genetic Epidemiologic Investigations

Abstract

Self-reports of disease from relatives are generally believed to be more detailed than those received from a family informant, although differential participation may exist among the relatives who provide information. To investigate the potential for differential participation, we requested permission to contact relatives of mothers (informants) who had provided family history information for a population-based case-control study of orofacial clefts. Birth defect and cancer self-reports were received from 345 (65.6%) case and 380 (68.8%) control relatives. Participants and nonparticipants differed little by type (maternal or paternal) or degree of relationship. Informants, however, were more likely to permit contact with relatives who were maternal, first-degree and female. Relatives appeared willing to provide self-reports, although the potential for differential selection introduced by informants should be considered.

Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls?

“…The weaknesses of our design are that we have been dependent on the index families to provide information on other family members and that we have had no mechanism to validate the diagnosis clinically. An alternative, which is feasible if using a family study rather then a family history design, would be to contact the relatives directly for information pertaining to them or their children [Romitti and Burns, 1997]. Furthermore most of the outcomes we examined occur relatively rarely in the general population and thus this research has still lacked the power to be able to demonstrate anything other than large effects.…”