Hundreds of lives a year could be saved by huge new genetic screening scheme for babies 🧬 The screening programme will sequence the genomes of 100,000 newborn children looking for defects associated with more than 200 conditions
The parents of any child born in a hospital taking part in the Newborn Genomes Programme will be given the option of a genome test for their baby during pregnancy Hundreds of lives a year could be saved after the Government announced plans for the world’s largest genetic screening programme for babies.
It will focus only on conditions that affect children from birth to the age of five and which are can be effectively treated, such as biotinidase deficiency – a rare condition where the body is unable to recycle biotin, one of the B vitamins, and pyridoxine-dependent epilepsy – a rare condition that results in uncontrollable seizures and developmental delay if untreated.
The genome sequence will be taken from either a blood or saliva sample. Genomics England is not yet clear on the best way to take a sample from a newborn baby for genome sequencing and is currently working on a trial to determine the best way to do this. This will then be analysed for genetic defects associated with more than 200 rare conditions.
And it will evaluate cutting-edge genomic sequencing technology to improve the accuracy and speed of diagnosis for cancer patients and use artificial intelligence to analyse a person’s DNA, alongside other information such as routine scans.
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