Chulalongkorn University Launches Newborn Genome Project for Disease Prevention

The Center of Excellence in Medical Genetics at Chulalongkorn University in Bangkok has initiated a groundbreaking project aimed at performing long-read whole genome sequencing in newborns. Launched on October 17, 2025, this innovative program will screen for 113 genetic diseases, facilitating early detection, prevention, and treatment, thereby enhancing lifelong health outcomes.

Revolutionizing Health Care with Genomic Medicine

Modern medicine is undergoing a significant transformation through the advent of genomic medicine, which decodes the genetic basis of diseases. This approach helps identify individuals at risk, predict the onset of symptoms, and determine the most effective treatments. According to Prof. Dr. Vorasuk Shotelersuk, Director of the Center of Excellence in Medical Genetics, the project aims to shift the paradigm from reactive to proactive health care. “Why wait until a person is sick to check their genetic information? We can screen newborns and prevent symptoms before they appear,” Prof. Dr. Vorasuk stated.

The project employs advanced Long-Read Whole Genome Sequencing technology, capable of detecting serious genetic disorders early in a child’s life. This method has received approval from the Human Research Ethics Committee at Chulalongkorn University and is currently seeking approximately 300 volunteer participants in its first year.

From Generalized to Personalized Medicine

The traditional approach to medicine often relied on a “one-size-fits-all” model, where treatments were effective for the majority but not necessarily for everyone. Prof. Dr. Vorasuk explained that genetic sequencing enables a shift to personalized medicine, tailoring care based on individual genetic profiles. This transition is pivotal in predicting responses to treatments and potential side effects.

Key concepts related to this evolution include:
– **Personalized Medicine**: Focuses on individual health and specific treatment plans.
– **Genomic Medicine**: Utilizes genetic data to inform health care.
– **Precision Medicine**: Combines genetic, environmental, and behavioral information for tailored care.

The technology behind Long-Read Whole Genome Sequencing has advanced significantly since its inception in the 1970s. This method allows for longer DNA sequence reads, enhancing the detection of complex mutations. Prof. Dr. Vorasuk emphasized, “This project will use this new technology for genetic screening in newborns.”

At Chulalongkorn Hospital, the screening process begins during prenatal care visits, where medical staff explain the project to expecting parents and obtain consent. The procedure is designed to be safe, painless, and free of charge. After the birth, blood is drawn from the umbilical cord, which is typically discarded, ensuring no discomfort for the mother or baby.

Through this genetic analysis, the project aims to identify severe, treatable conditions that may manifest within the first five years of life. Prof. Dr. Vorasuk noted that while the sequencing reads the entire genome, the focus remains on childhood diseases rather than adult-onset conditions.

Examples of detectable genetic disorders include:
– Blood disorders, such as thalassemia
– Neuromuscular diseases, like muscular dystrophy
– Immune deficiencies, including combined immunodeficiency
– Hearing loss disorders, such as congenital auditory nerve deafness
– Metabolic conditions, like phenylketonuria

The urgency of early detection cannot be understated. For instance, identifying a genetic mutation linked to retinoblastoma in a two-year-old can lead to timely intervention, preserving eyesight and significantly improving health outcomes. In contrast, without early screening, symptoms may progress to advanced stages, necessitating more invasive treatments.

As the project progresses, Prof. Dr. Vorasuk envisions genomic knowledge becoming integral to future health care. “Knowing your genome means a higher chance of prevention, accurate diagnosis, and targeted treatment,” he remarked. The implications extend beyond immediate health benefits, as understanding genetic predispositions can inform preventive measures for conditions like colorectal and breast cancer.

While the costs of sequencing remain a consideration, advancements in technology are driving prices down. If successful, this pioneering project could serve as a model for expanding genetic screening across Thailand, providing all children with access to their genetic information from birth.

For those interested in participating in the newborn genetic sequencing initiative, inquiries can be directed to +662-256-4000 ext. 73102 to 73105 during office hours. As genomic medicine continues to evolve, the potential for personalized health care becomes increasingly attainable, marking a pivotal shift in how diseases are understood and managed.