Thailand launches first newborn screening study using PacBio HiFi whole genome sequencing

Collaboration with Chulalongkorn University explores long-read sequencing to improve early detection of rare and treatable genetic conditions

Thailand has become the first country in Asia Pacific to integrate PacBio HiFi whole genome sequencing (WGS) into a newborn screening research initiative. The project, a collaboration between PacBio and Chulalongkorn University, aims to evaluate how long-read sequencing can enhance the early identification of rare and inherited conditions in newborns, addressing gaps left by traditional screening methods.

While most newborn screening programs rely on targeted molecular panels, these detect only a limited number of known conditions. In contrast, HiFi WGS uses long-read sequencing to provide a more complete and accurate view of the genome, including regions inaccessible to short-read technologies. The method allows simultaneous detection of structural variants, repeat expansions, and epigenomic signals, offering a multidimensional understanding of genetic risk from birth.

Professor Vorasuk Shotelersuk of Chulalongkorn University’s Center of Excellence for Medical Genomics said the initiative could support the development of a scalable national model. “Our shared goal is to establish a robust research model for genomic newborn screening that helps uncover the genetic basis of undiagnosed conditions from birth.”

Christian Henry, President and CEO of PacBio, described the collaboration as aligned with the company’s mission to make high-quality genomic data available where it is most needed. “This project demonstrates how advanced sequencing can improve insight at the earliest stages of life,” he said.

The collaboration positions Thailand at the forefront of precision medicine in the region and reflects growing interest across Asia Pacific in population-scale genomic healthcare. The insights generated could inform future strategies for public health planning, carrier screening, and equitable access to genomics-based diagnostics. The initiative may also help define international standards for data-sharing and cross-border research in early-stage genetic screening.