Genetic Analysis Could Lead to Simplified Test for Diagnosing Growth Hormone Deficiency

DIAGNOSING growth hormone deficiency (GHD) in children could be undertaken much more quickly and effectively following the development of a new test by scientists from the University of Manchester, Manchester, UK and the NHS. The findings, which identified 347 genes that display whether or not a child has GHD, could reduce the diagnostic process to a simple blood test.

Issues with Current Test

The current method of diagnosing GHD involves intravenous infusion in hospital and up to 10 blood tests over a half-day period to measure growth hormone production following a 12-hour fasting period. The test is also unreliable, often needed to be completed twice before prescription of growth hormone injections can be given.

Comparative Analysis

With high-powered computers, researchers undertook a comparative analysis of 30,000 genes from 72 children with GHD and 26 healthy children, and 3 million separate data points were examined to compare different gene patterns between the two sets of children using a mathematical technique called Random Forest Analysis. The study identified 347 genes which can determine if a child has GHD and therefore whether they will benefit from treatment once they are analysed with a computer algorithm. A simple blood test should be sufficient to obtain the necessary information for this, a process which would have a number of benefits over the existing diagnostic technique.

“Important Development”

“We think this is an important development in the way doctors will be able to diagnose growth hormone deficiency: a condition which causes distress to many thousands of children in the UK,” said Dr Adam Stevens, University of Manchester. “This sort of diagnosis would not be available even a few years ago but thanks to the enormous computing power we have, and advances in genetics, it is now possible for this aspect of care to be made so much easier for patients, and the NHS.”

Further Study

The team acknowledge that a further validation exercise comparing the new method with the existing test is required before adoption but hope to see it utilised in the NHS within the next 2–5 years. This would be a far less daunting process for patients with GHD, a condition that occurs in around 1 in 5,000 people.

James Coker, Reporter