PROBAND AND PARENT ASSISTANCE IN IDENTIFYING RELATIVES FOR CYSTIC-FIBROSIS CARRIER TESTING

To identify, contact, and offer free cystic fibrosis (CF) carrier educ ation, testing, and genetic counseling to the first, second, and third degree relatives of individuals with CF, study personnel contacted pr obands or the parents of minor probands requesting assistance in ident ifying relatives, We requested family pedigrees, including names, addr esses, and phone numbers and if necessary a saliva sample for determin ation of the specific CF mutations in the family, Two hundred three fa milies of 220 probands being followed at a large CF clinic in the Sout heastern United States were eligible for inclusion in the study, Of th e 203 families 109 (53.7%) assisted by providing contact information o n relatives and, when necessary, a saliva sample for mutation analysis , An additional 33 (16.4%) agreed to assist but did not provide either or both contact information or saliva samples. Sixty-one (30.1%) decl ined to provide assistance, Thirteen percent of the probands/parents w anted to talk with relatives before providing contact information. A l ogistic regression model predicting proband/parent assistance is provi ded, This study suggests that the active outreach method used here to identify at risk relatives to offer them CF carrier testing resulted i n somewhat lower proband or parent assistance than reported by other s imilar approaches, The strengths and weaknesses of this approach, incl uding comments by probands and parents on the method, are discussed. ( C) 1996 Wiley-Liss, Inc.