A phased rollout of genome sequencing in newborns, guided by oversight bodies, should be introduced, genome experts say today.
The view is controversial and another expert argues there are no justifiable grounds for routinely taking this personal data until individuals can provide informed consent.
Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns.
In the latest edition of The BMJ, experts debate if such sequencing should be introduced as a matter of course.
Dr Leslie Biesecker, chief of the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health, USA, and colleagues argue that extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it can be cost effective.
They say routine genome sequencing in newborns will eventually happen, but they advocate a phased rollout, where the genome sequence is generated at birth and over time, variants are disclosed sequentially at appropriate ages to help reduce the burden of genetic disorders.
This, they stress, should be guided by oversight bodies, with informed consent and appropriate opt-outs.
However, progress is needed in several areas, such as data quality, appropriate information management and clinical decision support systems.
They conclude that sequencing the entire genome of a person early in life enables the full potential of genomic diagnosis to be realised, bringing opportunities to diagnose more quickly and accurately and to prescribe appropriate targeted and gene-based therapies.
“By embracing a health ecosystem that offers universally available routine newborn genomic screening, we can maximise learning to ensure that the benefits of genomics reach the broadest range of people, minimising disparities and bringing greater health to all,” they conclude.
But Professor David Curtis, of University College London’s Division of Biosciences, said there are no grounds to justify routinely acquiring a person’s personal data before they are old enough to provide informed consent.
He argues only a tiny number of genetic conditions need action before an individual is able to consent to screening, and processes already exist to test newborns for these rare but serious conditions.
Even if some adults are interested in obtaining information about their possible risk of developing conditions, “there is no justification for assessing the risk of future health problems in newborn babies without their consent,” he says.
While newborn genome sequencing might be beneficial to wider society, this “cannot be used as a justification for sequencing babies’ genomes”, he adds.
Prof Curtis also raises concerns that this personal data might be misused.
He says: “So, why should we be contemplating genome sequencing of babies, who have no say in the matter, when as a society we have not agreed that all adults, for whom the potential health gains seem much greater, should undergo this process.
“Let us first answer the question, “Should all adults have their genome sequenced?” If the answer is no (as mine is), then we should restrict medical testing of newborns to the small number of conditions for which it is agreed that testing provides a real benefit to them.”
Biesecker LG, Curtis D et al. Head to Head: Should all babies have their genome sequenced at birth? BMJ 18 November 2021
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