Diagnosing growth hormone deficiency with a newly developed gene test

Diagnosing growth hormone deficiency with a newly developed gene test
GHD occurs when the pituitary gland fails to produce enough growth hormone

A new test has been developed by the University of Manchester, UK, and NHS scientists which could revolutionise the way children with growth hormone deficiency (GHD) are diagnosed.

The current test for children with suspected growth hormone deficiency is one which involves fasting for up to 12 hours.

This is then followed by an intravenous infusion in hospital and up to 10 blood tests over half a day to measure growth hormone production.

Due to its unreliability, often the current test must be done twice before growth hormone injections can be prescribed.

An improved process means better future for NHS

The team, which comprised Dr Adam Stevens from the University of Manchester and Dr Philip Murray from Manchester University NHS Foundation Trust, think that the new test could be available within 2-5 years and reduce the process to a single blood test. This would then free up valuable time and space for the NHS.

Stevens said: “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.

“This sort of diagnostic 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.

“These volume of data involved is so huge and complicated that traditional data-processing application software is inadequate to deal with it.”

What did the research find?

Data from 72 patients with GHD and 26 healthy children was compared using high-powered computers, which examined 30,000 genes, the full gene expression, of each child.

The research identified 347 genes which, when analysed with the computer algorithm, can determine whether a child has GHD or not and thus whether they will benefit from treatment.

Murray added: “This study provides strong proof of concept, but before it is in a position to be adopted by the NHS, we must carry out a further validation exercise which will involve comparing our new diagnostic with the existing test.

“Once we have crossed that hurdle, we hope to be in a position for this to be adopted within 2-5 years – and that can’t come soon enough for these children.”

What is growth hormone deficiency?

GHD occurs when the pituitary gland fails to produce enough growth hormone and more commonly affects children than adults.

It roughly occurs in one in 5,000 people. Since the mid-1980s, synthetic growth hormones have been successfully used to treat children and adults with the deficiency.

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