Failure to refer for testing for cystic fibrosis: doctors must ensure that those with a family history are advised appropriately.(Editorial)

Doctors must ensure that those with a family history are advised appropriately

The genetics of cystic fibrosis are well understood. It is an autosomal recessive disorder, and relatives of a person with cystic fibrosis have a greatly increased chance of being carriers (two of three healthy siblings of an affected person will be carriers as will one in two aunts or uncles). People without a family history of the disease have a 1 in 25 chance of being carriers. Thus, a couple in which one member carries the disease and one has no family history is 12 to 16 times more likely to have an affected child (that is, in 1 in 150 to 1 in 200 births the child will be affected) than a couple in which neither partner carries the gene (in which 1 in 2500 newborns will be affected). Accurate, quality controlled tests for the common cystic fibrosis mutations have been available through regional genetics services in the United Kingdom for a decade. Yet …