One hundred thousand newborn babies in England will have their genomes sequenced, in a £105mn research programme that could pave the way for a full-scale neonatal screening plan to detect rare genetic conditions.
Genomics England, a government-owned company, aims to read all the DNA carried by a representative national sample of babies shortly after they are born. The two-year project, to be carried out in partnership with the NHS, will begin late next year.
“Generating this evidence will allow policymakers to make well informed decisions on whether and how whole genome sequencing could be rolled out as part of a future newborn screening programme,” said Richard Scott, chief medical officer of Genomics England.
At present babies are given a “heel prick test” when 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 3bn “letters” of the baby’s genetic code — is expected to extend the number of treatable conditions detected to about 200, many of them extremely rare.
“We estimate that there are approximately 3,000 children born a year in the UK who could be helped by this approach if adopted nationally,” said Scott. The number of tests requiring further investigation among the 100,000 babies is likely to be in the region of 1,500 to 2,000.
“The genetic variants we are choosing are well established as causing serious childhood conditions that benefit from early detection and treatment,” said David Bick, principal clinician for the Newborn Genomes Programme.
One of the aims is to put an end to the anguishing “diagnostic odyssey” that thousands of parents endure if young children develop a mentally or physically debilitating disorder with an unknown cause. Without genomic analysis this typically takes four to five years, said Scott.
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 approached in 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 broader implications of storing a baby’s genome over a whole 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 employed for the Newborn Genomes Programme had not yet been decided, Scott said.
Although the Newborn Genomes Programme was designed in consultation with medical ethicists, several geneticists expressed doubts about whether the NHS has the resources to carry out extensive 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 race to use this technology before both the science and ethics are ready.”
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