Newborn genetic screening compensates for the shortcomings of the heel-prick test | World Prematurity Day

Preterm babies face greater health risks from the moment they are born. Their organs, immune systems, and metabolic pathways are not fully developed, making them more vulnerable to complications. Early identification of health risks becomes essential for improving survival and long-term development. A new study revealed that newborn genetic screening identified 94% of missed cases by the heel-prick test.

World Prematurity Day on Nov. 17 is an opportunity to raise awareness for the wider society that newborn genetic testing is a powerful new layer of protection. For preterm babies, who often present with overlapping symptoms, this early genetic insight gives clinicians a clearer path to faster, more targeted care.

Prematurity Underlying Health Risks

Preterm birth refers to babies born before 37 weeks of gestation. According to the World Health Organisation, around one in ten babies worldwide is born too soon, making prematurity one of the leading causes of neonatal mortality and long-term childhood health challenges. The risks stem from interrupted development.

Preterm infants often struggle with breathing, feeding, temperature control and immunity. They also face higher rates of metabolic instability. Temporary hyperglycemia, for example, is more common in very preterm babies due to immature insulin regulation. While many cases resolve, persistent instability can indicate an underlying genetic cause such as neonatal diabetes, a rare condition that requires specific treatment.

Other serious conditions, including congenital metabolic disorders, immune deficiencies and endocrine diseases, may also remain hidden during the first days of life. Many of these conditions are treatable when detected early, which makes timely diagnosis essential.

Genetic Testing Supports Lifesaving DiagnosisTraditional newborn screening remains one of the most effective public health interventions worldwide. The heel-prick test typically checks for a few dozen metabolic, endocrine and genetic disorders using biochemical analysis. Yet scientific advances now allow clinicians to detect many more conditions with far greater accuracy. Genetic testing provides direct insight into the genes linked to early-onset and treatable diseases that may not produce immediate symptoms. This approach is especially valuable for preterm babies, whose symptoms are often non-specific and can make diagnosis more challenging.

Recent evidence shows the real-world impact of integrating genomic sequencing into newborn care. An Australian study led by the Murdoch Children's Research Institute (MCRI) and Victorian Clinical Genetics Services (VCGS) demonstrated that genome sequencing can be added to routine newborn blood screening using the same heel-prick sample.

The BabyScreen+ study examined the genomes of 1,000 newborns in the State of Victoria by analysing 605 genes associated with severe, early-onset and treatable conditions. Results were returned within 14 days, showing that genomic testing is feasible at scale. Genomic sequencing detected all 16 babies with an increased likelihood of a treatable genetic condition, while traditional newborn screening identified only one. This means genomic testing uncovered 94% of cases that would have been missed by standard methods.

"Genomic sequencing at birth would enable many newborns to be diagnosed and treated earlier, improving patient and family health outcomes. It could also potentially be vital to lifelong health, with the data stored and available to screen at any time," said MCRI and VCGS Associate Professor Sebastian Lunke.

The study showed strong acceptance among parents, confirming that genomic newborn screening provides meaningful, actionable insights that complement traditional methods. For preterm babies, this expanded view of genetic risk supports more precise decisions in the neonatal intensive care unit.

Safeguarding Newborn’s Long-Term Health

As countries explore how genomics can strengthen newborn health, solutions like BGI Genomics' NOVA™ Newborn Genetic Screening bring these scientific advances into clinical practice. NOVA™ uses high-throughput sequencing, screening for 254 common disease subtypes involving 246 genes such as genetic metabolic diseases, hereditary deafness, and thalassemia. By identifying genetic risks early, clinicians can intervene before symptoms progress into serious complications.

The test also creates a lifelong resource. A baby's genome does not change, which means the information can be revisited as new symptoms appear or as medical knowledge evolves. For preterm babies who face more medical uncertainty in the first months of life, this long-term value is especially beneficial.

For preterm infants, when newborn genetic testing is combined with the heel-prick test, genomics can transform the newborn screening experience into a more comprehensive and forward-looking approach.

As research continues to demonstrate its impact, and as countries integrate advanced sequencing into national programs, families and clinicians gain a stronger foundation for helping every baby, especially those born too soon, start life with better protection and greater confidence.  

About NOVA™ Newborn Genetic Screening

BGI Genomics NOVA™ Newborn Genetic Screening is an efficient genetic disease screening panel for your baby. One-stop screening for 254 common disease subtypes involving 246 genes, such as genetic metabolic diseases, hereditary deafness, and thalassemia, is provided for all newborns and children.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.