The near exhausting way
doctors are often forced to diagnose a group of rare genetic disorders in
children could be transformed by a new test developed by The University of
Manchester and Saint Mary’s Hospital, reports NaijaAgroNet.
Inborn errors of
metabolism (IEMs), NaijaAgroNet
reports, are rare inherited conditions where enzymes that break down toxins or
serve other essential functions in the body are missing.
There are more than
500 IEMs – some as rare as only one in several thousand individuals. But
collectively they are common, affecting the lives of thousands; many children
die before they reach adulthood.
According to the team,
the test could help around half of all children affected by IEMs. It can also
be used for prenatal testing, helping parents to plan for future
pregnancies.
The researchers
combined a test for more than 200 IEMs by using technology known as ‘Next
generation sequencing’ of DNA.
The single blood or
saliva test could replace the battery of stressful tests children - and
parents- must endure- including invasive procedures such
as biopsies or spinal taps.
The findings,
published in the Archives of Disease in Childhood, may also enable diagnosis of some
rare disorders, that were previously not possible using traditional
approaches.
Many IEMs are
associated with a shortened life span; others may be less severe but cause
serious problems, affecting the brain, bones, gut and liver.
Dr Siddharth Banka, Dr
Arunabha Ghosh, Dr Simon Ramsden and Dr Simon Jones at The University of
Manchester and Saint Mary’s Hospital led the project.
Dr Banka, Consultant
Clinical Geneticist and Clinical Senior Lecturer said: “Using cutting edge
technology at the Manchester Centre for Genomic Medicine, we have demonstrated
that Next Generation Sequencing could transform the diagnosis of patients with
these rare genetic conditions.
“We hope this will
mean a child can be diagnosed accurately without having to undergo difficult
and invasive tests, improving access to treatment.”
The researchers
analysed the new test in 102 individuals with suspected childhood-onset
IEMs.
In 50% of the
individuals, the new test fully or partially established the molecular cause to
facilitate diagnosis.
The researchers also
found that using NGS after biochemical testing, such as blood and urine, helped
to avoid further invasive, lengthy or expensive investigations in 69% of the
individuals.
Dr Jones said: “After
the initial study period, we are now using this test regularly in Manchester
and over 350 patients have already benefitted."
Dr Ghosh said: “We have
shown it is highly reliable and can be easily done when a doctor suspects that
a patient may have an inborn error of metabolism.
"In the long run
we believe this test will save money for the NHS.”
Isaac Oyimah/GEE
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