Newborn Genetic Screening Identifies Treatable Conditions in Belgian Study

TAIPEI, TAIWAN, Feb. 28, 2025- A new study conducted in Belgium called BabyDetect has shown that sequencing newborns’ genes can help detect treatable childhood conditions that might otherwise go unnoticed. BabyDetect has offered genetic screening to newborns by analyzing their dried blood samples since launching in the fall of 2022. Researchers used advanced sequencing technology to examine 405 genes associated with 165 pediatric conditions that have known treatments or preventive care options. Unlike traditional newborn screening, which primarily looks for biochemical markers of disease, this method provides a direct look at genetic variations that could indicate health risks.

More than 4,200 families were informed about the study, and nearly 3,850 agreed to participate. Among these newborns, scientists identified 71 cases where genetic variations were linked to specific health conditions. 

One of the key findings of the study was that at least 30 of these cases would not have been detected with conventional newborn screening methods. For example, G6PD deficiency—an inherited disorder affecting red blood cells—was the most frequently diagnosed condition, with 44 newborns testing positive. Without genetic screening, many of these cases might have been missed, potentially leading to serious health complications later in life.

Additionally, the study found 17 cases of recessive conditions, which require two copies of a faulty gene to cause disease, and nine cases where newborns had inherited a single genetic variant linked to dominant conditions. One case initially appeared positive for a disorder caused by a gene called AGXT, but further testing using the parents' DNA showed that the baby had inherited the gene from a healthy mother. This highlights one of the challenges of genetic testing—sometimes, results require additional verification.

Despite its potential, newborn genetic screening comes with challenges. One major issue is the need for parental DNA testing, which can complicate logistics. Researchers in the study noted that collecting parental blood samples requires informed consent and careful storage, which could discourage some families from participating. Additionally, current methods sometimes struggle to determine whether a baby has inherited two copies of a risky gene or just one from a healthy parent. Future developments in sequencing technology, such as long-read sequencing, may help address these limitations.

Another key takeaway is that genetic screening should complement, rather than replace, existing newborn screening methods. The researchers found that traditional biochemical tests and confirmatory DNA sequencing played a valuable role in verifying genetic findings. As a result, they suggest that a combined approach using both biochemical and genomic strategies could be the most effective way forward.

As genetic newborn screening becomes more widespread, healthcare systems must prepare for the increased demand for genetic counseling and follow-up care. Families who receive unexpected results will need expert guidance to understand what the findings mean for their child's health. 

The BabyDetect project is part of a growing international effort to expand newborn genetic screening. Programs around the world are experimenting with different approaches, ranging from targeted gene panel testing to whole-genome sequencing. By identifying treatable conditions early, these initiatives have the potential to improve health outcomes for many children.

References:

[1] BabyDetect

[2] Newborn Sequencing Finds Treatable Pediatric Conditions in Prospective Belgian Maternity Ward Study

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