The National Health Service (NHS) plans to decode the genetic code of approximately 100,000 newborn babies in England. The primary objective of the program is to speed up the diagnosis and treatment of more than 200 rare diseases. Currently, newborns are checked for nine serious conditions, including cystic fibrosis, via a heel prick blood test. This new study is led by Genomics England, and it will involve taking blood samples from umbilical cords to diagnose further gene disorders, such as haemophilia and spinal muscular atrophy. Blood samples have already been obtained from babies born at 13 hospitals in England, and nearly 40 hospitals will ultimately offer the test.
Approximately 7,000 single gene disorders exist, but the program will only seek to detect those disorders that develop early in youth and have effective treatments. In some cases, the diseases are curable if identified early. The newborn screening study entails sequencing the complete DNA, or genome, of infants using blood samples from their umbilical cords. The research looks for 200 conditions that cause significant health issues early in childhood. Dr Ellen Thomas, NHS England’s chief medical officer, explained that the interventions and treatments available for all of them could have a significant impact on the child.
It may take years for genetic diseases to be detected presently, and children frequently fall sick before they are identified. The test includes rare genetic disorders like early juvenile Metachromatic Leukodystrophy (MLD). Lucy White’s son Joshua, aged nine, has MLD, and his condition has significantly deteriorated in the past two years. Lucy explained that Joshua’s condition took over two years of hospitalizations, specialist visits, scans, and procedures before a diagnosis was given. Joshua could have qualified for a clinical trial of a new treatment available via the NHS that could halt MLD’s damage if he had been identified at birth. Lucy has urged parents to sign up for the screening test, explaining that if they can save their child’s life, it is more important than anything in the world.
When the children selected to participate in the program reach the age of 16, they will be invited to continue in the research program, which might involve examining other parts of their DNA for conditions that may develop later in life, such as specific cancers, heart disease, or dementia. However, it might also raise ethical concerns about what health information is appropriate to disclose to individuals about their future health hazards. Genomics England said the focus of the program was treatable early childhood conditions, and no decisions had been made about how whole genome sequences would be used in the future. Dr Rich Scott, CEO at Genomics England, called the program a “pivotal moment.” The firm intends to gather evidence to determine whether genomic newborn screening should be offered to all children in the future. NHS England CEO Amanda Pritchard said that the diagnosis of rare illnesses in newborn babies through genomic testing “had the potential to grant thousands of children the opportunity to access the appropriate treatment at the appropriate time, giving them the best possible start to life.
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