Chulalongkorn University Launches Groundbreaking Newborn Genome Project

The Center of Excellence in Medical Genetics at Chulalongkorn University in Bangkok has unveiled an innovative project aimed at performing long-read whole genome sequencing in newborns. Announced on October 17, 2025, the initiative intends to screen for 113 genetic diseases, significantly enhancing early detection and intervention efforts in precision medicine.

Prof. Dr. Vorasuk Shotelersuk, Director of the Center of Excellence in Medical Genetics and Deputy Dean for Research, emphasized the importance of this approach. “Why wait until a person is sick to check their genetic information? We can screen newborns and prevent symptoms before they appear,” he stated. This forward-thinking project represents a significant shift toward early intervention, potentially improving lifelong health outcomes for children.

Advancing Precision Medicine Through Genetic Insights

Modern medicine has evolved significantly, utilizing genomic data to provide insights into individual health risks and treatment options. Genomic medicine allows practitioners to identify predispositions to certain illnesses, anticipate the age at which symptoms might manifest, and determine the most effective treatments based on a patient’s genetic makeup.

The project at Chulalongkorn University employs Long-Read Whole Genome Sequencing, an advanced method that offers comprehensive insights into a child’s genetic profile. By analyzing the child’s DNA from birth, healthcare providers can monitor and manage potential health risks from the outset.

The initiative has received approval from the Human Research Ethics Committee at Chulalongkorn University and is currently seeking around 300 participants in its first year, focusing on pregnant women interested in enrolling their newborns in the screening process.

Transforming Healthcare with Personalized Approaches

In the past, medical treatment often relied on a generalized approach, providing care that worked for the majority but not necessarily for individuals. As Prof. Dr. Vorasuk noted, “Genetic sequencing changes this. We can move from averages to individuals—predicting who will respond, who will not, and who may have adverse reactions.” This evolution is at the core of personalized medicine, which tailors healthcare to each individual’s genetic profile.

The project aims to analyze 246 genes associated with treatable childhood diseases, with results expected to be communicated to parents within 60 days. The knowledge gained from this genetic screening is poised to empower parents and healthcare providers with crucial information that can lead to early interventions and improved health trajectories.

The process is designed to be safe and non-invasive. Blood samples are collected from the umbilical cord after birth, ensuring that neither the mother nor the baby experiences discomfort. This method allows for the extraction of DNA, which is then sequenced to identify any genetic predispositions.

“Genetic diseases begin at birth with mutations present from day zero. The project’s goal is to detect them early to prevent symptoms,” explained Prof. Dr. Vorasuk. The screening will focus on severe, treatable conditions that typically emerge within the first five years of life, such as blood disorders, neuromuscular diseases, and metabolic conditions.

Examples of detectable conditions include:
– Blood disorders like Thalassemia
– Neuromuscular diseases such as Muscular dystrophy
– Immune deficiencies, including Combined immunodeficiency
– Congenital hearing loss disorders
– Metabolic conditions like Phenylketonuria

The initiative aims to prevent severe complications by identifying mutations early, allowing for timely medical interventions. For instance, early detection of a mutation linked to retinoblastoma could enable treatment before it progresses to a stage requiring drastic measures, such as eye removal.

Looking to the future, Prof. Dr. Vorasuk expressed optimism about the transformative potential of genomic knowledge in healthcare. “Who would live a better life—someone who knows their genome from birth, or someone who does not?” he pondered. By mapping genomes at birth, the project could pave the way for better prevention strategies, accurate diagnoses, and targeted treatments for a range of health issues.

As genomic medicine continues to advance, the hope is that this initiative will not only benefit newborns in Thailand but also inspire similar programs worldwide. For those interested in participating in this groundbreaking project, Chulalongkorn University has provided contact information for enrollment inquiries.

In conclusion, this pioneering project at Chulalongkorn University is set to redefine early healthcare, emphasizing the importance of genetic information in shaping better health outcomes from the very start of life.