In news that sounds straight out of a sci-fi blockbuster, the UK may be one step closer to whole genome sequencing of all newborns.
The government-owned Genomics England has long advocated that babies should have their DNA sequenced at birth to screen for dangerous genetic diseases. Now after a public consultation held on July 8, the company has announced that their plan has the support of the public – with a few safeguarding caveats.
“Our consultation shows that really carefully done [whole genome sequencing] would have some public support,” Professor Mark Caulfield, chief scientist at Genomics England, told the Guardian.
“The public support a newborn program focused on conditions where early intervention might reduce disability or avoid harm in early life, providing the impact on the NHS and families is a central consideration,” he explained.
The ambitious plans have their origins in 2016, when the UK’s Chief Medical Officer recommended “targeted genome sequencing or targeted analysis approach” for infants – though she stopped short of advocating next-generation sequencing (NGS) of the whole genome due to a “lack of evidence”.
Nevertheless, in 2019 Genomics England recommended a scheme to sequence the DNA of all newborns in the country. The then-health secretary Matt Hancock announced in November of that year that whole genome sequencing would be offered to all parents in a move that he said would provide “predictive, preventive, [and] personalized health care.”
But the plans were met with widespread criticism over the potential ethical conflicts of such a scheme. Screening for genetic diseases is already the subject of fierce debate – and in some cases, international guidelines. Genome sequencing at birth, critics say, would remove the agency of the child to learn their biological fate on their own terms.
A person’s genetic predisposition to certain diseases is a complex issue, not just for personal reasons, but also from a medical standpoint. Some critics say that whole genome sequencing, without the context of medical knowledge and training, has the potential to cause “significant harm”.
“[Patients could become] unnecessarily worried or erroneously reassured,” honorary professor at University College London’s Genetics Institute, David Curtis, told the British Medical Journal in 2019, “and change their behavior towards their health and life for the worse.”
Babies in the UK are already routinely screened at birth for nine dangerous but rare diseases, such as congenital hypothyroidism or sickle cell disease, all of which can be treated via certain health interventions. However, genetic testing for newborns is reserved for those infants with special circumstances such as a family history of certain inherited diseases or an especially sick baby for whom no diagnosis can otherwise be found.
Proponents of whole genome sequencing say that the scheme would simply boost this already ubiquitous process: “There are probably about 600 conditions [genome sequencing could screen for] where there is a potential early life intervention,” Caulfield told The Guardian, “and these all present before your fifth birthday.”
But other doctors, such as Curtis, are doubtful.
“I am skeptical about this idea of 600 conditions you could test for,” he told the Guardian. “Probably the harsh truth is that finding useful, actionable results is very unusual.”
Other issues raised in the public consultation were the security of the data gathered – after all, would you want your baby’s DNA sequence left at a bus stop? – and the potential of the scheme to become another healthcare provision riddled with racial bias. Contributors also highlighted the need for counselling options for those who receive a diagnosis.
“Genomics has the potential to identify a wider set of conditions than the current NHS newborn screening programme,” Caulfield said in a statement after the consultation. “This ... has the potential to kick-start a revolution in the way we find, and make available, new diagnoses and treatments for children with rare but very serious diseases, and transform their life chances.”