Population screening for cystic fibrosis in Western Australia: Community response

We measured acceptance of carrier testing for cystic fibrosis in the commun ity when offered in a primary care setting, determined variables influencin g acceptance, and assessed knowledge of cystic fibrosis 3-6 months later. A total of 5,102 individuals age 18-50 years attending general practices or a family planning clinic in Western Australia completed questionnaires abou t knowledge of cystic fibrosis and the State Anxiety Inventory. Testing for the delta F508 gene was offered. After 3-6 months, carriers, a sample of c onsenting participants who were not tested, and a sample of test-negative p articipants were sent a further questionnaire; 43.5% of participants chose to be tested for cystic fibrosis carrier status, Women, younger people, peo ple with higher education, people without children, and people planning to have children were more likely to be tested. After 3-6 months, carriers gav e correct responses to questions about cystic fibrosis more frequently than those who tested negative or were not tested; 82.2% of carriers knew that they were definitely a carrier and 31.1% of test-negative individuals belie ved they were definitely not carriers. Thus, population carrier screening f or cystic fibrosis offered in a community setting in Western Australia was acceptable to almost half of those offered testing, particularly younger pe ople and those planning to have children, for whom knowledge of carrier sta tus could be useful in making reproductive decisions. There was evidence th at tested individuals recalled information in a way that minimised their ri sk of being a carrier. Am. J. Med, Genet, 93:198-204, 2000. (C) 2000 Wiley- Liss, Inc.