A testing time
- By: Ben Sieniwicz
In Sheffield, where I study, all children are routinely screened for the most common genetic mutations associated with cystic fibrosis as part of the Guthrie test, in the first week of life. But this practice is not yet routine throughout the United Kingdom.
Early detection of the disease would allow people advanced access to drugs and aggressive nutritional treatment. Evidence indicates that doing so increases survival, growth, and even cognitive development. Catching up in growth is not always possible because severe malnutrition can persist after a delay in diagnosis. Perhaps of greater importance is the beneficial effect an early diagnosis would have on the relationship between the family and the medical team. It is hardly surprising that parents who are aware of the diagnosis from the start experience less anxiety and distrust towards the medical profession.
Identifying the disease through a national screening programme would also likely prove more cost