DNA of 100,000 newborns decoded in search of rare disease | Tech News

Thousands of babies each year with rare genetic diseases could receive treatment faster after announcing £175m for “cutting-edge genomic research”.

Genomics UK will sequence the genomes of 100,000 newborns – which involves the study of human DNA – in a bid to tackle rare conditions after the government provided £105m in funding for the research.

The Neonatal Genome Project will evaluate the feasibility and effectiveness of using whole genome sequencing to diagnose hundreds of genetic diseases that affect thousands of newborns each year.

Genomics England, a company owned by the Department of Health and Social Care (DHSC), said this would speed up diagnosis and access to treatment.

This is part of the DHSC’s announcement of £175 million for “cutting-edge genomics research”, with a further £26 million for projects aimed at improving the accuracy and speed of cancer diagnosis.

Genomics England said the newborn screening program would only focus on treatable conditions affecting children from birth to five years of age.

This will be voluntary and will be done in conjunction with the current heel prick test – which involves taking blood samples from newborns to test for nine rare conditions.

In contrast, using whole genome sequencing would allow the identification and diagnosis of more than 200 diseases, it added.

It is estimated that around 3,000 children born in the UK each year could be helped if the new approach is adopted nationwide.

It will start next year and will gather evidence to consider whether it can be rolled out nationally, the DHSC added.

Dr Rich Scott, Chief Medical Officer at Genomics England, said: “Our aim in the Newborn Genomes Project is to do more for the thousands of children born in the UK each year with treatable genetic conditions.

“We want to be able to provide rapid diagnosis, faster access to treatment, and better outcomes and quality of life.

“We want to be able to say to parents that we did our best to catch these life-altering diseases in time and do something before the damage they do.

“Generating this evidence will allow policymakers to make informed decisions about whether and how to scale up whole genome sequencing as part of future newborn screening programs.”

But Professor Frances Flinter, Emeritus Professor of Clinical Genetics at Guy’s & St Thomas’ NHS Foundation Trust, said: “Using whole genome sequencing to screen newborns is a step into uncharted territory.

“Getting the right balance of pros and cons will be critical.

“We must not race to use this technology until the science and ethics are ready.”

A public consultation by Genomics England found that there was general support for the use of genomics in newborn screening, provided the right safeguards were provided, the DHSC said.

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