Chulalongkorn University Launches Groundbreaking Newborn Genome Project

On October 17, 2025, the Center of Excellence in Medical Genetics at Chulalongkorn University in Bangkok unveiled a pioneering initiative in newborn healthcare. The project introduces long-read whole genome sequencing to screen for 113 genetic diseases, aiming for early detection and prevention. This advancement represents a significant leap in precision medicine, potentially transforming the health outcomes for newborns.

Transforming Healthcare with Genomic Medicine

Modern medicine is evolving through the lens of genomic medicine, which decodes genetic information to reveal individual health risks. This approach enables healthcare providers to identify susceptibility to specific diseases, predict the onset of symptoms, and tailor treatments based on genetic profiles. According to Prof. Dr. Vorasuk Shotelersuk, Director of the Center, this technology allows for proactive health measures. “Why wait until a person is sick to check their genetic information? We can screen newborns and prevent symptoms before they appear,” he stated.

The Long-Read Whole Genome Sequencing Screening Project aims to identify genetic risks from birth, facilitating early interventions. The technology used is among the most advanced in the world, capable of detecting complex genetic mutations that could lead to serious health issues.

Details of the Screening Process

The project has secured approval from the Human Research Ethics Committee at the Faculty of Medicine, and recruitment for participants, specifically pregnant women, is underway. In its first year, the project anticipates enrolling approximately 300 participants. When abnormalities are detected, targeted prevention and treatment can be initiated immediately.

During prenatal visits at Chulalongkorn Hospital, healthcare professionals explain the project and obtain consent from parents. The screening procedure is painless and free of charge. Blood is drawn from the umbilical cord after delivery, allowing for DNA extraction without discomfort to the mother or child. “Blood becomes DNA, which becomes digital data for analysis,” Prof. Dr. Vorasuk explained.

The initial analysis will focus on 246 genes associated with 113 treatable childhood diseases, with results provided to parents within 60 days after testing.

Focusing on Early Detection

The initiative emphasizes the importance of early genetic screening, targeting severe, treatable conditions that manifest during the first five years of life. “If the mutation is related to diseases that develop in adulthood, like cancer at age 40, we will not analyze or report it,” Prof. Dr. Vorasuk clarified. This strategy aims to prevent unnecessary anxiety for parents regarding future health risks.

Some of the conditions detectable through this screening include:

• Blood disorders (e.g., Thalassemia)
• Neuromuscular diseases (e.g., Muscular dystrophy)
• Immune deficiencies (e.g., Combined immunodeficiency)
• Hearing loss disorders (e.g., Congenital auditory nerve deafness)
• Metabolic conditions (e.g., Phenylketonuria)
• Lysosomal storage diseases (e.g., Fabry disease)
• Endocrine disorders (e.g., Congenital adrenal hyperplasia)

Prof. Dr. Vorasuk emphasized that genetic diseases can be present from birth, with symptoms potentially appearing at various ages. “Our project’s goal is to detect them early to prevent symptoms,” he noted, citing examples where early detection could prevent severe health consequences.

The Future of Genomic Medicine

Looking ahead, Prof. Dr. Vorasuk envisions a future where knowledge of one’s genome will be integral to healthcare. “Who would live a better life—someone who knows their genome from birth, or someone who does not?” he posed. Understanding genetic risks can lead to preventive measures that significantly reduce mortality rates for various conditions.

As genomic medicine continues to advance, the costs associated with genetic sequencing are decreasing, making the technology more accessible. If successful, this project could set a precedent for national implementation across Thailand, ensuring that all children have access to their genetic information from birth.

For parents interested in participating in the newborn genetic sequencing program, inquiries can be directed to +662-256-4000 ext. 73102 to 73105 during office hours.

The project embodies a significant step towards personalized medicine, paving the way for gene editing and therapy in the future. With ongoing advancements, the potential for improved health outcomes through genetic knowledge is increasingly within reach.