Intended for healthcare professionals


Failure to refer for testing for cystic fibrosis

BMJ 2001; 322 doi: (Published 10 February 2001) Cite this as: BMJ 2001;322:310

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

  1. Maurice Super (, consultant paediatric geneticist.,
  2. Rosie Barnes, chief executive.,
  3. David Greig, general practitioner.
  1. Royal Manchester Children's Hospital, Manchester M27 4HA
  2. Cystic Fibrosis Trust, Bromley, Kent BR1 1BY
  3. St James Medical Centre, Taunton TA1 1JP

    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 the number of instances in which a general practitioner has not referred a concerned patient or has behaved in a dismissive …

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