The NHS is using a “revolutionary” test that can promptly detect hundreds of fatal disorders in newborns.
In a first for the medical world, clinicians will utilize the genetic screening tool to quickly and accurately detect diseases in youngsters, such as cystic fibrosis and cancer, rather than waiting weeks for findings.
According to medical professionals, a quick blood test that checks for genetic flaws in a patient’s DNA would speed up treatment for the critically sick and help save thousands of children’s lives every year.
It comes after a successful trial with 20,000 infants earlier this year that was motivated by Ivan, David Cameron’s son.
The 100,000 Genomes Project was started in 2012 by the former prime minister in honor of his son, who passed away in 2009 from a rare neurological condition.
The test will be hailed as the beginning of a “new age of genomic medicine” by the leader of the NHS today.
Amanda Pritchard will explain that she has seen how “these basic blood tests may impact the lives of newborns and their families” while speaking at the first genomics healthcare conference in London.
This worldwide first, she will remark, “is a fantastic moment for the NHS and will be revolutionary in allowing us to quickly detect the diseases of thousands of very sick infants and newborns, saving many lives in the years to come.”
More than 1,200 infants and toddlers need critical care each year, and until recently, they had to go through a battery of tests with lengthy wait times for the findings.
However, the new test will be able to identify which of the 6,000 genetic illnesses a kid has by looking for errors in their DNA.
Using a method called whole genome sequencing, scientists take DNA from a blood sample and send it through a machine to analyze it.
They screen it for genetic changes, which are then compared to a database of tens of thousands of diseases. Within a week, local physicians get the findings.
The majority of uncommon genetic abnormalities manifest in infancy for the first time, and they account for approximately a third of mortality in neonatal critical care. In order to continue screening all newborns for nine uncommon illnesses, the NHS will continue to take blood samples from their heels a few days after birth.
But the new DNA test may also be administered to those who exhibit severe symptoms of illness.
‘With quick and correct identification, illnesses might be cured or better controlled with the proper clinical treatment, which would be life-altering – and possibly lifesaving – for so many very ill newborns and children,’ said Dr. Emma Baple of the National Rapid Whole Genome Sequencing Service.