Born to thrive: Genetic newborn screening rewrites the first chapter of life

Every year, millions of newborns undergo routine heel-prick screening, a simple test that can mean the difference between a healthy life and catastrophic disability.

Now, breakthroughs in high-throughput sequencing are supercharging this process. It detects rare genetic disorders before symptoms appear and transforms pediatric medicine from damage control to prevention.

We spoke with international leading experts about how genetic technological leap is saving lives that would have been lost a decade ago. These experts include Professor Vorasuk Shotelersuk, a leader of medical genomics in Thailand, and Professor Han Lianshu, chief pediatric physician at Xinhua Hospital in Shanghai, China.

Hidden Gaps in Traditional Screening

Many parents assume that prenatal genetic testing and standard heel-prick screenings provide complete protection. Prof. Han Lianshu, from the Department of Pediatric Endocrinology and Genetics and Metabolism at Shanghai Xinhua Hospital, explains why this is dangerously misleading.

Traditional newborn screening looks for abnormal chemicals in blood, like checking a car's exhaust for problems. Genetic sequencing inspects the engine's blueprint itself. For some children with genetic diseases, their biochemical indicators may appear normal during the first few days after birth.

Dr Han notes that some diseases may only manifest, and the related biochemical indicators may only become abnormal during infancy, childhood, adolescence, or even adulthood. However, as carriers of pathogenic mutations, they can easily be missed without genetic testing. If the disease develops later, it may cause irreversible harm to the child.

Genetic Newborn Screening is a Must

Prenatal screening and newborn screening serve different but complementary roles. Tests such as non-invasive prenatal testing (NIPT) mainly detect chromosomal issues like Down syndrome, but they don't catch most single-gene metabolic diseases, such as methylmalonic acidemia. Even if parents have carrier screening, rare new mutations or undetected variants can still affect the baby.

Genetic newborn screening reads the body's biological blueprint at birth. Unlike traditional methods that wait for physical signs of disease, it identifies errors before they manifest as illness. It helps uncover hidden, fast-developing, and often irreversible diseases, some of which show no biochemical warning signs.

Early Recognition is Key

A recent gene therapy breakthrough successfully saved a newborn baby, KJ's life. A Californian baby was diagnosed shortly after birth with CPS1 deficiency—a rare, life-threatening metabolic disorder. This case became the world's first personalized CRISPR gene-editing therapy recipient. In just six months, a dedicated team of NIH-backed scientists designed a custom intervention to correct the genetic mutation in the child's liver.

However, as Dr. James Nurse, Paediatric Consultant at University Hospital Southampton, believes, "CRISPR didn't save this child's life—the clinical team that recognized the signs of hyperammonaemia at 48 hours of age did." The real hero was the early and accurate diagnosis by clinicians, enabled by high-throughput sequencing.

Thailand’s Genomic Revolution

The government-funded Genomics Thailand Project is rewriting the rules of pediatric care. Since 2021, a coalition of 36 medical centers has worked to sequence 50,000 genomes, with a dedicated focus on rare diseases.

Prof. Vorasuk Shotelersuk, Director of the Center of Excellence for Medical Genomics, Faculty of Medicine, Chulalongkorn University, sees newborn DNA sequencing as a game-changer. "We expect DNA sequencing to eventually expand upon traditional newborn screening by enabling earlier, more comprehensive detection of conditions, especially rare genetic disorders," he explained.

In Phase II of Genomics Thailand, the nation will begin DNA sequencing-based newborn screening, pushing the system from reactive treatment toward proactive prevention. A goal is a healthcare model where high-throughput sequencing is not merely an advanced option but a standard tool, seamlessly integrated into public health and pediatric practice.

As Prof. Shotelersuk emphasizes, "Genetic sequencing has the potential to shift the focus of pediatric care from reactive treatment to proactive prevention, improving outcomes from the very start of life."

High-throughput sequencing equips clinicians to act earlier, with greater precision and confidence. It allows health systems to move from diagnosing illnesses after they appear to preventing them altogether. As Thailand rolls out sequencing for millions, and CRISPR therapies advance, the next frontier is clear: a world where no child's genetic fate is left to chance.

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.