In November 2019, Matt Hancock, then Britain’s health minister, revealed a noble ambition: to sequentially arrange the genomes of every child in the country. This, he said, would lead to a “genetic revolution,” with the future being “predictive, preventive and personalized healthcare.”
Finally, Hancock’s dreams began to come true. In October, the government announced that Genomics England, a government-owned company, would receive funding to operate a UK research pilot project aimed at sequencing the genomes of 100,000-200,000 children. The scheme, called the Newborn Genome Programme, will be included in the UK’s National Health Service and will specifically look for “actionable” genetic conditions – meaning those for which there are existing treatments or interventions – that appear in early life, such as pyridoxine. Depends on epilepsy and congenital adrenal hyperplasia.
Simon Wilde, engagement director for Genomics England, said it would be at least 18 months before recruitment for participants began. The program would not reach Hancock’s goal of including “every” child. During the beta phase, parents will be recruited to join. The results will be returned to the parents “as soon as possible,” Wilde says. “For many of the rare diseases that we will be looking for, the earlier you can intervene with treatment or treatment, the better long-term outcomes for the child.”
Children’s genomes will also be de-identified and added to the UK’s National Genome Research Library, where researchers and commercial health companies can mine data for study, with the goal of developing new treatments and diagnoses. The research pioneer’s goals, according to Genomics England, are to increase the number of rare genetic diseases screened early in life to enable research into new treatments, and to explore the possibility of making a person’s genome part of their medical record. It can be used in later stages of life.
Whole genome sequencing, and mapping of the three billion base pairs that make up your genetic code, can bring illuminating insights into your health. By comparing a genome to a reference database, scientists can identify genetic variants, some of which are associated with specific diseases. As the cost of whole-genome sequencing has come down (it now costs only a few hundred dollars and can return results within a day), its promises to revolutionize healthcare have become more tempting — and morally ambiguous. Uncovering the bounty of genetic knowledge requires millions of people to keep it safe from misuse. But advocates have argued that sequencing the genomes of newborns could help diagnose rare diseases early, 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, the way he said it,” says Johnston, director of research at the Hastings Center, a bioethics research institute in New York, and a visiting scholar at the University of Otago in New Zealand. “She had this other agenda, which isn’t a health-based agenda – it’s an agenda that is seen as being technologically advanced, and thus winning some kind of race.”