Genome sequencing is all set in revolutionizing the diagnosis of rare conditions in children. All children of England who are ill with unexplained disorders would be eligible for this. It involves the mapping of the genetic code of a person.
This is followed by a project at the Cambridge University and Addenbrooke’s Hospital. It was found that one-fourth of children in the intensive care had genetic disorder. Diagnosis was given in two or three weeks and this at times led to treatment change or spared from further tests. As part of the Next generation Children project about 350 children at Addenbrooke’s Hospital had their genomes analyzed. In two-thirds of the cases, the gene error occurred at conception spontaneously and was not inherited. The list of conditions includes birth abnormalities and neurological symptoms like reduced growth, epilepsy and metabolic diseases. It was also found that the appearance of the children and the clinical symptoms could very well predict if there was a genetic condition in the children.
The genome analysis has become a possibility for a majority because of the increase in the sequencing speed as well as the reduction in prices. The cost to sequence a genome is below ₤1,000. The NHS Genomic Medicine Service will be using this project as a template. As per this any child who is having an unexplained condition and is admitted in the intensive care will be eligible for genome sequencing. NHS’s England chief scientific officer, Prof Dame Sue Hill said that genomics has the power to transform the delivery care of patients and this is one reason why this has been prioritized by NHS in their Long Term Plans. He further said that this trial was important as it shows how ill children can be cared for in a better manner by using the benefits of genome sequencing. At the same time it also helps in demonstrating how this particular technology could be delivered as a part of NHS service.