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100,000 British Babies to Get Whole-Genome Test in World’s Biggest Study

DNAJames TweedieUnravelling a human being’s entire genetic code was once a massive project that took years of work, but now the UK’s National Health Service (NHS) plans to offer it as a routine diagnostic test.British parents will have the chance to see their babies’ entire genome sequenced under plans for biggest such screening programme yet.The Newborn Genomes Programme will offer whole genome sequencing (WGS) to up to 100,000 infants under the National Health Service (NHS).The project, the largest of its kind ever undertaken, is run by Genomics England, a company set up by the Department of Health and Social Care. It aims to screen for some 200 treatable genetic disorders.Children in the UK currently have a simple ‘heel prick’ blood spot test when they are few days old to screen for nine hereditary illnesses, including the blood disorder sickle cell disease and the lung condition cystic fibrosis.”Our goal is… to do more for the thousands of children born every year in the UK with a treatable genetic condition,” said Dr Rich Scott, Chief Medical Officer for Genomics England. “We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life.”Science & TechScientists Lift Veil of Secrecy Concerning Functions of Human Genome Parts14 June, 16:21 GMTThere are at least 7,000 known disorders caused by mutations in single genes. They affect thousands of children in the UK, but the symptoms may take years to manifest themselves and testing and diagnosis can be a lengthy process.The NHS has recently begun offering WGS to all seriously ill infants who may have such a condition. WGS can also screen for susceptibility to conditions like cancer that develop later in life.The genetic material DNA contains the code for building all living organisms. Each individual gene codes for a single protein, which become the building blocks of cells and tissues or regulate the body’s metabolic process.

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