The NHS is implementing a revolutionary test that can rapidly diagnose hundreds of fatal disorders in infants.
In a world first, clinicians will utilize genetic screening technology to diagnose cancer and cystic fibrosis in children within days, as opposed to weeks.
The inexpensive blood test that checks for genetic flaws in a patient’s DNA, according to health experts, would expedite treatment for the gravely ill, saving thousands of young lives annually.
It follows a successful pilot program with 20,000 babies earlier this year, which was inspired by Ivan Cameron, the son of former prime minister David Cameron.
Today, the head of the National Health Service will welcome it as the beginning of a “new era of genetic medicine.
Amanda Pritchard will explain at the inaugural genetics healthcare summit in London how “these simple blood tests can improve the lives of babies and their families
She will remark, “This historic moment for the NHS will revolutionize our ability to promptly detect the illnesses of thousands of very ill children and infants, saving many lives in the years to come.”
Timing is important when a child enters intensive care, so obtaining the correct diagnosis and treatment as soon as possible is crucial. I am thrilled that the innovative work of the NHS’ Genomic Medicine Service is altering the way we diagnose and treat patients in England.
More than 1,200 children and infants are sent to intensive care each year, and until recently, they had to undergo comprehensive testing, with findings frequently taking weeks to return.
By analyzing a child’s DNA for flaws, the new test will be able to tell whether the child has any of the 6,000 hereditary illnesses.
Using a technique known as whole genome sequencing, scientists take patient DNA from a blood sample and run it through an analysis machine.
They examine the DNA for genetic mutations, which are then compared to a database of hundreds of hereditary disorders; local physicians receive the results within one week.
Approximately three-quarters of uncommon genetic abnormalities manifest in children and account for nearly one-third of neonatal intensive care fatalities.
The NHS will continue to test all newborns for nine rare illnesses by drawing blood from their heels a few days after birth.
The new DNA test, which will be submitted to the laboratory of the Royal Devon University Healthcare NHS Foundation Trust, may be administered to patients who exhibit indicators of serious illness.
Numerous illnesses are treatable or even reversible if physicians can administer customized medications and treatments early enough.
Doctors are hopeful that the discovery will save lives and enhance the quality of care for countless others by requiring less invasive testing and allowing for more individualized treatment.
The director of the National Rapid Whole Genome Sequencing Service, Dr. Emma Baple, stated that it will “change the diagnosis of rare genetic disorders.”
She stated, “We know that with timely and accurate identification, illnesses might be cured or better controlled with the appropriate therapeutic care, which would be life-changing – and potentially life-saving – for so many very ill infants and children.”
This new service, which has been in the works for more than five years, represents a significant improvement in what we can do for these children and their families, and it is an amazing honor for us to be a part of giving children across the country the greatest care possible.
The nationwide expansion is a component of the NHS Genomic Medicine Service.
David Cameron founded the 100,000 Genomes Project in 2012 in remembrance of his son Ivan, who passed away in 2009 from a rare neurological illness.
Since then, the NHS has begun regularly sequencing the entire genomes of children and certain adults with specific malignancies.
Successive Health Secretaries have vowed to place breakthroughs in genetics at the center of British healthcare, with Matt Hancock desiring to test all children as part of a genomic revolution.
However, this resulted in ethical concerns over the storage and use of the collected data, as well as considerations regarding whether patients could regret finding they have or will have a terminal condition in the future.
Today will see the unveiling of the first NHS Genomics Strategy, a five-year plan to increase the use of genomic medicine within the NHS. The strategy will include the establishment of a GMS Ethics Advisory Board to examine the introduction of new technologies, return of results, data protection, and genomic research.
