In November 2019, Matt Hancock, then the UK’s health minister, unveiled a lofty ambition: to sequence the genome of every baby in the country. It would usher in a “genomic revolution,” he said, with the future as “predictive, preventive, personal health care.”
Hancock’s dreams are finally coming true. In October, the government announced that Genomics England, a state-owned company, would receive funding to run a research pilot in the UK aimed at sequencing the genomes of between 100,000 and 200,000 babies. The plan, called the Newborn Genomes Program, will be embedded in the UK’s National Health Service and will specifically look for “actionable” genetic conditions – ie. those for whom there are existing treatments or interventions – and which manifest early in life, such as pyridoxine-dependent epilepsy and congenital adrenal hyperplasia.
It will take at least 18 months before recruitment to participants starts, says Simon Wilde, engagement director at Genomics England. The program will not achieve Hancock’s goal of including “every” baby; in the pilot phase, parents will be recruited to participate. The results will be returned to the parents “as soon as possible,” Wilde says. “For many of the rare diseases we look for, the earlier you can intervene with a treatment or therapy, the better the long-term outcomes for the child.”
The babies’ genomes will also be deidentified and added to the UK’s National Genomic Research Library, where the data can be extracted by researchers and commercial healthcare companies to study with the aim of developing new treatments and diagnostics. The purpose of the research pilot, according to Genomics England, is to expand the number of rare genetic diseases that are screened for in early life to enable research into new therapies and to explore the potential of getting a person’s genome to be part of their medical record. can be used at later stages of life.
Whole genome sequencing, the mapping of the 3 billion base pairs that make up your genetic code, can return enlightening insights into your health. By comparing a genome with a reference database, scientists can identify gene variants, some of which are associated with certain diseases. As the cost of whole genome sequencing has taken a dive (it now costs only a few hundred dollars and can yield results within a day), its promises to revolutionize healthcare have become all the more enticing – and ethically vague. Unraveling a wealth of genetic knowledge from millions of people requires that it be protected from abuse. But advocates have argued that sequencing the genomes of newborns can help diagnose rare diseases earlier, improve health later in life, and advance the field of genetics as a whole.
Back in 2019, Hancock’s words left a bad taste in Josephine Johnston’s mouth. “It sounded ridiculous, as he put it,” said Johnston, research director at the Hastings Center, a bioethical research institute in New York and a visiting researcher at the University of Otago in New Zealand. “It had this second agenda, which is not a health-based agenda – it’s an agenda to be perceived as technologically advanced and therefore to win some kind of race.”