In November 2019, Matt Hancock, then the UK’s Health Secretary, reveal a lofty ambition: to sequence the genomes of every infant in the country. It will usher in a “genomics revolution,” he said, with a future of “predictive, preventive, personalized healthcare.”
Hancock’s dreams finally come true. In October, the government announced that Genomics England, a government-owned company, will receive funding to run a research pilot in the UK to sequence the genomes of between 100,000 and 200,000 infants. Dubbed the Newborn Genome Programme, the scheme will be included in the UK’s National Health Service and will specifically look for “actionable” genetic conditions — that is, those disease for which there is an existing treatment or intervention — and manifests in early life, such as pyridoxine-dependent epilepsy and congenital adrenal hyperplasia.
Simon Wilde, interaction director at Genomics England, said it would take at least 18 months before recruiting participants would begin. The show would not achieve Hancock’s goal of including “every” baby; During the pilot phase, parents will be selected to participate. Results will be returned to parents “as soon as possible,” Wilde said. “For many of the rare diseases we’ll be looking at, the sooner you can intervene with a treatment or therapy, the better the long-term outcome for the child.”
Newborn genomes will also be identified and added to the UK’s National Genome Research Library, where researchers and commercial health firms can mine the data to research, with the goal of developing new treatments and diagnostics. The goal of the research pilot, according to Genomics England, is to expand the number of rare genetic diseases screened during early life to enable the study of new therapies and to explore the potential for a genome to be discovered. people in their medical records. can be used at later stages of life.
Whole-genome sequencing, a mapping of the 3 billion base pairs that make up your genetic code, can yield insights into your health. By comparing genomes with a reference database, scientists can identify gene variants, some of which are associated with certain diseases. As the cost of whole-genome sequencing declines (currently only a few hundred dollars and can return results within days), its promises to revolutionize healthcare are becoming more and more important. should be more appealing — and morally murky. Unraveling a body of genetic knowledge from millions of people requires keeping it safe from abuse. But proponents argue that sequencing the genomes of infants can help diagnose previous rare disease, improved health later in life, and beyond the field of genetics in general.
Back in 2019, Hancock’s words left a bad taste in Josephine Johnston’s mouth. Johnston, director of research at the Hastings Center, a bioethics research institute in New York and a visiting researcher at the University of Otago in New Zealand, said: “It sounds ridiculous, the way you do it. he said. “It has a different agenda, this one is not based on health — it’s an agenda that is supposed to be technologically advanced and therefore win a race of some kind.”
