100,000 newborn babies will have their DNA completely decoded

One hundred thousand newborn babies in England will have their genomes sequenced, in a £105m research program that could pave the way for a full-scale neonatal screening scheme to detect rare genetic conditions.

Genomics England, a government-owned company, aims to read all the DNA carried by a nationally representative sample of babies shortly after they are born. The two-year project, which will be carried out in collaboration with the NHS, will start late next year.

“Generating this evidence will allow policy-makers to make well-informed decisions about whether and how whole-genome sequencing can be rolled out as part of a future newborn screening programme,” said Richard Scott, chief medical officer of Genomics England.

Currently, babies are given a “heel poke test” when they are four or five days old. Biochemical analysis of these tiny blood samples detects nine potentially serious conditions so that treatment can start as soon as possible.

Whole-genome sequencing – reading all 3 billion “letters” of the baby’s genetic code – is expected to expand the number of treatable conditions being discovered to around 200, many of them extremely rare.

“We estimate that there are approximately 3,000 children born in the UK a year who could be helped by this approach if adopted nationally,” Scott said. The number of tests requiring further investigation among the 100,000 babies is likely to be in the range of 1,500 to 2,000.

“The genetic variants we select are well-established causes of serious childhood conditions that benefit from early detection and treatment,” said David Bick, lead clinician for the Newborn Genomes Programme.

One of the goals is to put an end to the agonizing “diagnostic odyssey” that thousands of parents are subjected to if their young children develop a mentally or physically debilitating disorder with an unknown cause. Without genomic analysis, this usually takes four to five years, Scott said.

NHS trusts across England will select participants, chosen to be as representative as possible of the population, with an emphasis on achieving the ethnic diversity that has often been lacking in medical research projects, Bick added. Scotland, Wales and Northern Ireland may join later.

Selected parents will be contacted mid-pregnancy about potential participation, so they are ready for their baby to undergo more than a standard heel prick test. The benefits and risks will be explained, including the wider implications of storing a baby’s genome over a lifetime.

The Genomics England project is one of eight newborn sequencing studies being planned around the world, but most of the others are on a smaller scale.

In its previous 100,000 Genomes Project, which focused on patients with cancer and rare diseases, Genomics England used equipment from US-based Illumina to read volunteers’ DNA. The sequencing technology to be used for the Newborn Genomes program had not yet been determined, Scott said.

Although the Newborn Genomes program was designed in consultation with medical ethicists, several geneticists expressed doubts whether the NHS has the resources to carry out comprehensive genomic screening on top of its existing work.

“Using whole genome sequencing to screen newborn babies is a step into the unknown,” said Frances Flinter, a clinical geneticist at Guy’s and St Thomas’ NHS Foundation Trust. “We must not rush to use this technology until both the science and the ethics are clear.”

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