CYSTIC-FIBROSIS CARRIER SCREENING IN A HIGH-RISK POPULATION - PARTICIPATION BASED ON A TRADITIONAL RECRUITMENT PROCESS

Objective: Recent advances in molecular genetic (DNA) technology have permitted identification of previously undetectable cystic fibrosis (C F) carriers. Although research has been initiated in the general popul ation, to our knowledge no published studies have looked at the utiliz ation of DNA-based carrier screening in the high-risk CF population (f amily history of CF). Design: Cross-sectional, diagnostic open trial. Setting: Carrier testing was offered to a high-risk CF population via adult patients with CF or parents of pediatric patients with CF attend ing two regional CF clinics over a 3-year period. Participants: Consec utive sample of virtually all patients with CF (n=118) from a populati on of 1 million. Main results: Despite free services, written follow-u p, and counseling for 99% of patients attending the CF clinic, there w as less than 10% participation from high-risk family members (168 bloo d relatives and 26 spouses of identified carriers or patients with CF; 38 and 156 persons from the adult and pediatric clinic families, resp ectively). Nevertheless, we identified 91 CF carriers among the high-r isk relatives. This is comparable to the number of carriers detected i n general population carrier screening that has tested substantially m ore individuals (>3000 per study). Conclusions: Our results suggest th at research concerning CF carrier screening not only focus on data abo ut fundamental program resources and numbers of carriers detected but also investigate how information about the availability of carrier scr eening is disseminated, the motivation behind testing, and the perceiv ed relevance of test results by those tested in the high-risk populati on. These issues are increasingly relelvant as screening becomes feasi ble using DNA testing for far more prevalent disorders (such as breast cancer and diabetes).