UK: DNA of 100,000 babies to be sequenced for identification of rare genetic conditions

The entire DNA of 100,000 newborns is to be sequenced as a part of a 105 million pound ($128.7 million) research programme in England, paving the way for better diagnosis and early treatment for rare genetic conditions. The government-funded research will be the first time that whole genome sequencing (WGS) would be offered to healthy babies.

The research led by Genomics England with the United Kingdom’s National Health Service (NHS) may also be the biggest of its kind. In addition to the current heel prick blood test which looks for nine rare disorders which include cystic fibrosis and sickle cell disease, the project will analyse the full DNA of the baby as well as the parents if required.

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The Newborn Genomes Programme will begin next year to check the feasibility of the test and if successful could be rolled out across the country for diagnosing conditions that affect thousands of newborn babies each year. The research would look at genes which are known to connect around 200 rare diseases which begin within five years of life, however, adult-onset illnesses will not be assessed.

Notably, there are 7,000 single gene disorders most of which develop in early childhood. The Department of Health and Social Care, on Tuesday, said the programme is a part of the 175 million pound boost to “cutting-edge genomics research” out of which at least 26 million pounds is also allocated to improving the accuracy and speed of cancer diagnoses.

“Our goal in the Newborn Genomes Programme is to do more for the thousands of children born every year in the UK with a treatable genetic condition,” said Chief Medical Officer (CMO) of Genomics England, Dr Rich Scott. He added, “We want to be able to say to parents that we’ve done the best we can to identify and do something about these life-changing illnesses, in a timely way before the damage these conditions can cause has been done.”

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Meanwhile, echoing a similar sentiment, the clinical advisor for the programme David Bick said “We can prevent a condition which if it arises could damage a child permanently and take years to sort out…For the families this is enormously important and very gratifying.” He also noted that some of these conditions can be treated much more easily and effectively if caught early to improve health as well as save the NHS money.

(With inputs from agencies)

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