Experts are debating whether complete genome sequencing is necessary for all newborn babies



Genomics England, a state-owned company, recently announced a pilot program for sequencing the entire genome for screening for genetic diseases in 200,000 healthy newborns.

But should every newborn have its entire genome sequenced? Experts discuss the issue in The BMJ today.

Extensive clinical evidence shows that screening for genetic diseases saves lives, and research shows it can be cost-effective, say Leslie Bizecker and colleagues at the National Institute of Human Genome Research in the United States.

Routine genome sequencing in newborns will eventually occur, they write, but instead of screening newborns for all diseases, they advocate for phased implementation, in which genome sequence is generated at birth and over time. are revealed consistently at an appropriate age to reduce the severity of genetic diseases.

Such dissemination of genomic information should be led by supervisors, with informed consent and appropriate refusals, they explain. It should also be located in a repository linked to his or her medical record, easily accessible to healthcare providers and available for re-analysis to keep pace with growing knowledge.

To realize the expected benefits of routine neonatal genome sequencing, they say progress is needed in several areas, including data quality, proper information management and clinical decision support systems.

But they reject the call for all non-genetic health professionals to be thoroughly trained in genetics and genomics as “impractical and unnecessary.”

Only by sequencing the entire human genome early in life can the full potential of genomic diagnosis be realized, they say, providing opportunities to diagnose more quickly and accurately and to place targeted and gene-based therapies to bed with minimal delay. .

By embracing a health ecosystem that offers universally accessible routine genomic screening of newborns, we can maximize learning to ensure that the benefits of genomics reach the widest possible range of people, minimizing disparities and ensuring better health for all.“, They conclude.

But David Curtis of University College London argues that the human genome is a vast amount of personal data and there is no reason to routinely obtain it from all citizens before they are old enough to have the capacity to provide informed consent.

He points out that only a small number of genetic conditions require action before a person can agree to screening, and there are already processes in place to test newborns for these rare but serious conditions.

The genome sequence can also provide information about the risk of developing many conditions for which there is no specific intervention, he explains. But even if some adults are interested in receiving this risk information, “there is no justification for assessing the risk of future health problems in newborn babies without their consent.”

He cites examples where genome sequencing of newborns can be beneficial to the general public, but reiterates that this “cannot be used as an excuse to sequence baby genomes.”

He also expressed concern that most of our personal data could be misused, noting that some governments reportedly carried out massive DNA collection, with the potential to use it for repressive practices, including organ harvesting.

So why should we consider genomic sequencing of babies who have no say in the matter, as we as a society have not agreed that all adults, for whom the potential health benefits seem much greater, must go through this process, he asks?

Let’s answer the question first. “Should the genome of all adults be sequenced? “If the answer is no (as it is mine), then we should limit medical testing of newborns to the small number of conditions that are considered to provide real benefit.He concludes.

Source:

Reference in the magazine:

Biseker, LG, et al. (2021) Should the genome of all babies be sequenced at birth? BMJ. doi.org/10.1136/bmj.n2679.



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