Thailand has launched the first program in the Asia Pacific region to explore long-read whole genome sequencing (WGS) for newborn screening at a population level. The initiative – a collaboration between PacBio and Chulalongkorn University – aims to evaluate how comprehensive genome-wide testing can enhance early detection of rare and treatable conditions in newborns.
Traditional newborn screening methods typically use targeted panels that detect a limited set of conditions. By contrast, long-read WGS technology enables precise identification of a broader array of genetic variants – including structural variants and repeat expansions – many of which are challenging or impossible to detect with short-read sequencing. This approach also captures epigenomic information, offering a multidimensional view of the genome that could refine diagnostic accuracy and risk prediction from birth.
“Our shared goal is to establish a robust and scalable research model for genomic newborn screening that helps uncover the genetic basis of undiagnosed conditions from birth,” said Vorasuk Shotelersuk from the Center of Excellence for Medical Genomics, Chulalongkorn University.
By integrating long-read sequencing into its national research agenda, Thailand not only positions itself as a leader in genomic medicine but also contributes to the global effort to modernize pediatric diagnostics. The initiative may also serve as a model for other nations seeking to enhance public health strategies through advanced genomic platforms. It represents an opportunity to reevaluate current screening protocols in light of emerging genomic technologies that provide more comprehensive and interpretable data.
This program underscores the potential of long-read sequencing to improve early detection frameworks, carrier screening, and data infrastructure for population-scale health initiatives.
Source: GlobalNewsWire.com
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