Screening for CF

Eureka moments are scarce in the business of combating disease. Finding a ‘cure’ is all too rare an event and more often than not the big successes come in the form of clever management and therapy of a condition. 

As such it is vital that this therapy begins as soon as possible – which in turn places the emphasis on good diagnostics. A perfect example of this is Cystic Fibrosis. In 1964 a child diagnosed with CF would be lucky to live past 5 years of age. Today over half those with the condition live into their late 30s and beyond. Yet still we still face the sobering fact that each week two young lives are lost to CF. One of the major ways to improve this has to be early and reliable diagnostics.

Despite first being described in 1938 by pathologist Dr Dorothy Andersen, there are many earlier reports of infants from the middle of 17th Century who almost certainly had CF. How do we know?  Well as unlikely as it may sound – nursery rhymes. A passage from German Children's Songs and Games from Switzerland shows that "The child will soon die whose forehead tastes salty when kissed."

Perhaps not a diagnostic technique to be envied in our modern age – yet for CF, the technology has not advanced as much as you might think. The sweat test is still the most common diagnostic techniques for CF, but that looks set to change. With reliability and timescale at such a premium, the development of genetic screening tests for CF seem to herald a new era in the management if this disease. On p12 we have a look at one such test.