Chulalongkorn University Launches Groundbreaking Newborn Genome Project

On October 17, 2025, the Center of Excellence in Medical Genetics at Chulalongkorn University in Bangkok unveiled an innovative project aimed at performing long-read whole genome sequencing for newborns. This pioneering initiative seeks to screen for 113 genetic diseases, with the objective of facilitating early detection and intervention, thereby enhancing lifelong health outcomes.

Revolutionizing Genetic Screening

The project represents a significant advancement in precision medicine, allowing for the identification of genetic predispositions at birth. Prof. Dr. Vorasuk Shotelersuk, the Director of the Center, emphasized the importance of early intervention: “Why wait until a person is sick to check their genetic information? We can screen newborns and prevent symptoms before they appear.” This proactive approach aims to mitigate health risks associated with genetic conditions that can manifest early in life.

Utilizing one of the most advanced DNA sequencing methods, Long-Read Whole Genome Sequencing, the project will assess whether newborns are at risk for serious genetic disorders. The initiative has received approval from the Human Research Ethics Committee at the Faculty of Medicine, and recruitment for participants is currently underway, targeting around 300 volunteers in its first year.

From General to Personalized Medicine

Historically, medical treatments have relied on a one-size-fits-all model, often overlooking individual responses to drugs and therapies. “Genetic sequencing changes this,” stated Prof. Dr. Vorasuk. The transition to personalized medicine allows healthcare providers to tailor treatments based on genetic data, enhancing the efficacy of interventions. This shift toward individualized care encompasses three main concepts:

• Personalized Medicine: Tailoring medical care based on individual health data.
• Genomic Medicine: Applying genetic sequencing for healthcare decisions.
• Precision Medicine: Integrating genetic, environmental, and behavioral information for optimal treatment.

Advancements in DNA sequencing technology have evolved since the 1970s, culminating in the ability to analyze extensive genomic data rapidly. The Long-Read Whole Genome Sequencing project focuses on severe, treatable conditions that may arise during the first five years of a child’s life. Examples of detectable conditions include blood disorders like thalassemia, neuromuscular diseases such as muscular dystrophy, and metabolic disorders like phenylketonuria.

In practice, genetic screening at Chulalongkorn Hospital involves a painless blood sample taken from the umbilical cord immediately after birth. This non-invasive method ensures the safety and comfort of both mother and child. The extracted DNA will be analyzed for genetic markers associated with the aforementioned diseases, with results expected within 60 days.

Prof. Dr. Vorasuk highlighted the critical nature of early genetic knowledge, stating that conditions often have symptoms that can manifest from infancy. For instance, a child with a genetic predisposition to retinoblastoma may require immediate treatment for optimal health outcomes. “By screening newborns, we can initiate treatment when conditions are manageable,” he noted.

Looking ahead, the potential impact of this project extends beyond individual cases. Prof. Dr. Vorasuk envisions a future where knowledge of one’s genome becomes integral to healthcare, enabling targeted prevention strategies and reducing the incidence of genetic diseases. He stated, “Knowing your genome means a higher chance of prevention, accurate diagnosis, and targeted treatment.” If successful, the initiative may pave the way for nationwide implementation, granting all Thai children access to their genetic information from birth.

For those interested in participating in this groundbreaking project, inquiries can be directed to Chulalongkorn University at +662-256-4000, extensions 73102 to 73105 during office hours.