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UK announces mass genome sequencing programme for newborns

by Ozva Admin
UK announces mass genome sequencing programme for newborns

UK health authorities on Tuesday announced a pioneering research program using the genomes of 100,000 newborn babies to detect rare genetic diseases and speed up treatment.

The £105 million ($129 million) publicly funded “Newborn Genomes Programme”, billed as the largest study of its kind in the world, will establish whether genomic sequencing to diagnose such conditions should implemented throughout the country to ensure earlier interventions.

Some 200 conditions affecting a total of 3,000 newborns each year in the UK will be examined.

“We will only look at conditions that are treatable and early childhood conditions,” said Rich Scott, chief medical officer at Genomics England, which was set up by the Ministry of Health in 2013.

They include biotinidase deficiency, a genetic disorder in which the body is unable to metabolize the vitamin biotin.

David Bick, a clinical adviser for the program, said the condition, which can cause seizures, severe rashes and neurological problems, can be prevented with over-the-counter vitamins.

“We don’t want to wait for them to emerge to treat them,” he added.

Scott said that, in addition to outlining the conditions, the program, which will begin next year, will provide insight into public attitudes toward lifetime storage of genomic data.

Potentially, the information could be used to help with a person’s future health care needs “to predict, diagnose or treat conditions, for example if they get sick later on,” he added.

– Inequalities –

The investigators intend to recruit from a broad spectrum of participants from different backgrounds, and in whom there is not necessarily an identified pre-existing risk.

“Crucially that means that many of the parents we approach will not necessarily have any prior knowledge of genetics or inherited conditions in their family,” said Amanda Pichini, genetics counselor at Genomics England.

If the trials prove successful, the researchers aim to sequence the newborns’ whole genomes, along with heel prick tests already done for nine rare but serious diseases in newborns, including sickle cell disease and cystic fibrosis. .

UK Health Secretary Steve Barclay said “the potential for genomics to revolutionize the way we deliver healthcare is great.”

“If we can detect treatable diseases earlier and ensure patients access potentially life-saving treatment faster, we could improve the lives of people across the country, including thousands of babies, through this new pilot program.” added in a statement.

His department highlighted the results of a public consultation, published in July 2021, indicating support for the use of genome sequencing in newborns if strong safeguards are in place.

Two other research programs were also announced: one, with £22m of government funding, is to sequence the genomes of up to 25,000 participants of non-European origin, who are “currently underrepresented” in research.

Their goal is to better understand DNA and its “impact on health outcomes” and to help “reduce health disparities and improve patient outcomes in all communities,” according to the Department of Health and Human Care.

The other, with seed funding of £26 million, focuses on evaluating sequencing to improve accuracy and speed in cancer diagnosis.

In total, the government has announced £175m in funding for genomics research.

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