When a child is born, they typically undergo routine screening to check that they are healthy. In most countries, this is currently broken down into three categories: physical, hearing, and heel prick tests. Now that the prospect of the Genomics England Newborn Genomes Programme is crawling closer to becoming a reality, that could be about to change.
In the UK, every baby is offered a physical examination to check their eyes, heart, hips, and, in males, testicles. This examination is carried out within 72 hours of birth, and once again at 6 to 8 weeks of age.
This is soon followed by a hearing test. About 2 babies in every 1,000 are born with permanent hearing loss in one or both ears. Figuring this out early can help give the baby a better chance at developing speech, language, and communication skills. The test is called an automated otoacoustic emission (AOAE) test, in which gentle clicking sounds are played within the baby’s ear. If there is poor response to this first test, the baby will be offered the automated auditory brainstem response (AABR) test. The AABR test involves placing 3 small sensors on your baby’s head and neck, in addition to the same gentle clicking sounds.
The final test that babies undergo, around 5 days after birth, is the newborn heel prick test. Here, a small blood sample is collected from the baby’s heel and sent for testing. These NHS tests can identify up to nine rare, serious conditions which may require early treatment to prevent severe disability or death. These conditions include sickle cell disease, cystic fibrosis, congenital hypothyroidism, phenylketonuria and others.
However, there are many other serious illnesses that are not screened for that can greatly impact a child’s development and upbringing.
“There are probably about 600 conditions where there is a potential early life intervention, and these all present before your fifth birthday ” noted Professor Sir Mark Caulfield, former Chief Scientist at Genomics England.
So, what are the next steps for newborn screening in the UK, and is it necessary?
Whole genome sequencing for newborn babies
The Newborn Genomes Programme proposed by Genomics England aims to evaluate the use of the increasingly affordable and widespread ability to sequence whole genomes to provide an extra layer of detection for newborns.
The three aims of the program are:
- Evaluate how and if whole genome sequencing can be used to screen for a larger number of childhood-onset rare genetic conditions in newborns, including what support they will need, and how this would affect the NHS.
- Understand how genomic and health data could be used for research to enable new diagnostic discoveries and treatments to be developed.
- Explore the potential risks, benefits, and broader implications of storing an individual’s genome over their lifetime
It is proposed that up to 200,000 babies’ genomes will be sequenced and analysed for a set of actionable genetic conditions which may affect their health in early years.
As well as potentially informing on the babies’ care, their genomes will be de-identified and added, alongside their health data, to the National Genomic Research Library.
However, some scientists have raised concerns about the baby WGS plan, suggesting that it’s less about diagnosing more conditions, and more about building the genomics industry in the UK and making genomic medicine more mainstream.
“If it was really all about that, you could do that through other means,” said Anneke Lucassen, director of the Centre for Personalised Medicine at the University of Oxford. “It’s about helping to build the genomics industry in the UK and it’s about creating a research resource so we can study people as they grow older.”
Lucassen wasn’t necessarily opposed to the pilot but wanted more transparency as to the reason for its implementation.
A public consultation with 130 members of the public seemed to show support, provided that recommendations were followed. Additionally, it was raised that it’s important to consider implications for the wider family, and that while parents give consent on behalf of the newborn, the child may have a different view as they grow up, including on genomic data being used for research.
Others are sceptical about the tangible benefits of the sequencing. It was also noted that unactionable information about potential risks or conditions could do more harm than good, fuelling anxiety and unnecessary treatments.
It’s highly likely that more personalised genomic healthcare will become part of the NHS at some point in the future. The question is: is newborn WGS the right route to take? It will be interesting to follow this pilot study over the next few years and see how public perception shapes the path that is taken.
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