Proband and parent assistance in identifying relatives for cystic fibrosis carrier testing

To identify, contact, and offer free cystic fibrosis (CF) carrier education, testing, and genetic counseling to the first, second, and third degree relatives of individuals with CF, study personnel contacted probands or the parents of minor probands requesting assistance in identifying relatives. We requested family pedigrees, including names, addresses, and phone numbers and if necessary a saliva sample for determination of the specific CF mutations in the family. Two hundred three families of 220 probands being followed at a large CF clinic in the Southeastern United States were eligible for inclusion in the study. Of the 203 families 109 (53.7%) assisted by providing contact information on 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%) declined to provide assistance. Thirteen percent of the probands/parents wanted to talk with relatives before providing contact information. A logistic regression model predicting proband/parent assistance is provided. This study suggests that the active outreach method used here to identify at risk relatives to offer them CF carrier testing resulted in somewhat lower proband or parent assistance than reported by other similar approaches. The strengths and weaknesses of this approach, including comments by probands and parents on the method, are discussed.