Plans to sequence the whole genome of every newborn in the UK in order to spot those at heightened risk of certain health conditions have been given a boost, with consultations suggesting the approach could have public support.
The potential for genomics to improve health was at the heart of the chief medical officer annual report of 2016, with a group of experts convened by Genomics England – a government-owned genetics service – subsequently recommending a research programme to sequence the whole genome of all newborns.
The approach was backed by the UK’s former health secretary Matt Hancock who in November 2019 said it “will give every child the best possible start in life by ensuring they get the best possible medical care as soon as they enter the world”.
Now Genomics England says discussions with the public have offered support for the plans.
“Our consultation shows that really carefully done [whole genome sequencing of newborns] would have some public support,” Prof Sir Mark Caulfield, chief scientist at Genomics England, told the Guardian, adding that consultations with professionals were now under way.
At present all babies have what is known as the “heel prick” or blood spot test at around five days old to screen for nine serious health conditions including cystic fibrosis, sickle cell disease and various metabolic diseases. These conditions, if identified, can be treated or managed.
While some genetic testing is available before birth, it is currently only offered in newborns in certain cases, for example to follow up on sickle cell results from the blood spot screening, if there are concerns a baby might be at risk for particular inherited diseases, or for very sick children without a diagnosis.
But proponents have argued that sequencing the whole genome – and for all newborns – offers greater opportunities to spot whether babies have an increased risk of particular diseases, potentially opening up the opportunity for early interventions from diet changes to gene therapy.
“There are probably about 600 conditions where there is a potential early life intervention, and these all present before your fifth birthday,” said Caulfield, noting estimates suggest nine children born every day in England would have one of these conditions.
Caulfield added that where treatments are not available at-risk children could be offered the chance to take part in research for new therapies while screening could also flag an increased risk of conditions that develop later in life, from cancer to Alzheimer’s disease.
However experts say there are ethical conundrumsaround such a programme. They suggest it might lead to unnecessary anxiety and treatments, that not all conditions are currently treatable, and that it raises questions about how and when the results would be shared with the children. There are also concerns around privacy and whether the results would be as accurate for people from different ethnic backgrounds as they are for white people.
To gauge public attitudes to the screening, Genomics England with the UK National Screening Committee and Sciencewise undertook discussions with about 130 members of the British public, with participants taking part in a webinar and four online workshops between February and March this year.
The findings, which will be presented in a free online event on 8 July, suggest that whole genome sequencing of all newborns could have public support – with participants saying it could lead to a move towards a “more prevention-focused NHS”.
But participants stressed the need for parents and families to be given support to deal with the psychological and emotional impacts of a diagnosis.
Among other issues raised were questions of cost, consent, and safeguards against data being used by insurance or marketing companies. Participants also emphasised the need for screening to include babies from all backgrounds but raised disquiet around the potential for discrimination. They also flagged concerns about sharing health information about adult onset conditions at birth.
Caulfield said the findings will help to shape a potential newborn whole genome sequencing programme.
“The public support a newborn programme 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 said.
The primary goal of a pilot, he added, is now to assess whether early detection of disease where there is a clear intervention before the fifth birthday is effective, safe and can be done in the NHS, adding while there is public support for a platform to stimulate new therapies for the disorders without treatments this is more challenging and will take time.
David Curtis, honorary professor at University College London’s Genetics Institute, said while important issues had been raised in the public consultation there were some misconceptions about the benefits of knowing about raised risk, and additional factors to consider – including around security.
Among his concerns, Curtis said babies should not be tested to determine if parents have particular health conditions – despite support from the public consultation – adding that there has been some degree of hype around the potential benefits of genetic approaches such as whole genome screening.
“I am sceptical about this idea of 600 conditions you could test for,” he said. “Probably the harsh truth is that finding useful, actionable results is very unusual.”