Cystic Fibrosis

Recently researchers have located a number of defects on particular genes that appear to be responsible for the majority of CF cases. Knowing the location of these gene mutations makes it possible to test for carriers of the disease (individuals who have only one defective gene copy, and therefore have no symptoms themselves). Currently the test detects 85% of all CF gene mutations, which can be determined by extracting DNA from a persons blood, cheek cells, or saliva. Some researchers feel that this detection rate is still too low and that testing should be performed only on persons who have a familial history of CF or are Northern European by descent. Others argue that because the test is relatively inexpensive and easy to perform the test should be offered to everyone. At this time, testing for the gene responsible for CF remains controversial. In particular, testing parents prior to or during a pregnancy to determine their carrier status has resulted in controversy.