ACTIVE CASCADE TESTING FOR CARRIERS OF CYSTIC-FIBROSIS GENE

Objective-To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (cascade screening). Design-Paediatricians and physicians provide details of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interest in the genetics of cystic fibrosis. Setting-North Western health region. Subjects-Relatives and partners of 607 people with cystic fibrosis.