Chula Launches Newborn Genome Sequencing Project for Early Detection and Prevention of Genetic Diseases
The Center of Excellence in Medical Genetics at Chulalongkorn University in Bangkok has launched an innovative project aimed at performing long-read whole genome sequencing on newborns. Announced on October 17, 2025, this initiative will screen for 113 genetic diseases, marking a significant step forward in precision medicine. The overarching goal is to facilitate early detection and prevention of genetic disorders, thereby enhancing lifelong health outcomes for children.
Transforming Medical Care Through Genomics
The advent of genomic medicine has introduced a new dimension to healthcare by decoding the genetic underpinnings of various diseases. This field provides insights into individual predispositions to illnesses, potential onset ages, and the effectiveness of specific treatments. According to Prof. Dr. Vorasuk Shotelersuk, Director of the Center, the ability to screen newborns for genetic risks represents a paradigm shift in medical practice. He stated, “Why wait until a person is sick to check their genetic information? We can screen newborns and prevent symptoms before they appear.”
The project employs Long-Read Whole Genome Sequencing, a leading-edge DNA sequencing method that allows for comprehensive analysis of a child’s genetic makeup. This technology is designed to identify serious genetic diseases early, enabling targeted monitoring and care for affected individuals. The initiative has received approval from the Human Research Ethics Committee of the Faculty of Medicine, and recruitment for participants, specifically pregnant women, is underway. The goal is to enroll approximately 300 participants in the first year.
Personalized Medicine: A New Approach
Previously, traditional medicine often relied on population averages, which could result in ineffective treatments for certain individuals. “Genetic sequencing changes this,” Prof. Dr. Vorasuk explained, highlighting the shift towards personalized medicine. This approach allows for a more tailored treatment plan based on a patient’s unique genetic profile.
He emphasized three critical terms that define this new direction:
– **Personalized Medicine**: Care focused on individual health needs.
– **Genomic Medicine**: Personalized care informed by genetic data.
– **Precision Medicine**: An integrated approach that considers genetic, environmental, and behavioral factors.
The technology for genetic sequencing has evolved significantly since the 1970s, transitioning from reading individual base pairs to analyzing entire genomes with greater accuracy. Long-Read Whole Genome Sequencing (WGS) stands out for its ability to capture longer DNA segments, enhancing the detection of complex mutations that may have gone unnoticed with traditional methods.
The screening process involves obtaining blood from the umbilical cord following delivery at Chulalongkorn Hospital. This method is safe, painless, and poses no risk to the mother or baby. The extracted DNA is then analyzed to identify genetic risks associated with severe, treatable childhood diseases.
“Neither mother nor baby will feel pain because the blood is taken from the umbilical cord that would otherwise be discarded,” Prof. Dr. Vorasuk noted. The initial analysis will focus on 246 genes linked to the 113 diseases, with results expected to be delivered to parents within 60 days.
Significance of Early Detection
The project emphasizes early detection of genetic conditions that manifest within the first five years of a child’s life. For example, the screening can identify mutations that lead to conditions such as retinoblastoma, a type of eye cancer. Early intervention can significantly improve treatment outcomes, as Prof. Dr. Vorasuk highlighted: “A 2-year-old with genetic mutations causing retinoblastoma might have advanced cancer when detected by doctors, requiring eye removal and leading to blindness.”
Additionally, the initiative aims to prevent complications from conditions that could be exacerbated by medications. Prof. Dr. Vorasuk provided an example involving siblings who appeared healthy at birth; without prior screening, one child faced sudden hearing loss due to a genetic mutation triggered by an antibiotic. Early screening could prevent such outcomes by identifying at-risk individuals.
Looking to the future, Prof. Dr. Vorasuk envisions a healthcare landscape where genomic information is integral to medical practice. “Knowing your genome means a higher chance of prevention, accurate diagnosis, and targeted treatment,” he stated, emphasizing the importance of understanding genetic predispositions for various conditions.
As genomic medicine continues to advance, the cost of sequencing is expected to decrease, broadening access to these life-saving technologies. If successful, this innovative project could pave the way for similar initiatives across Thailand, allowing all children the opportunity to have their genetic blueprint mapped at birth.
For those interested in participating in the newborn genetic sequencing project, inquiries can be directed to +662-256-4000 ext. 73102 to 73105 during office hours.
Further details about the project can be found on the Center of Excellence in Genomics and Precision Medicine’s website.
