The programme studies rare and treatable conditions in newborns.
Sequencing specialist PacBio has collaborated with Chulalongkorn University, implementing its PacBio HiFi whole genome sequencing (WGS) in the university’s Newport screening research programme.
The programme is part of an effort evaluating how comprehensive genomic data can support earlier, more accurate identification of rare and treatable conditions in newborns.
“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 Chulalongkorn University’s Professor Vorasuk Shotelersuk from the Center of Excellence for Medical Genomics.
“We are excited to work with PacBio to bring this vision closer to reality for families in Thailand.”
Traditionally, newborn screening programmes use targeted panels that detect a limited subset of conditions based on specific molecular pathologies. However, advances in genome sequencing allow for researchers to take a more comprehensive approach from birth.
PacBio HiFi WGS uses long-read technology to generate genomic data, including areas usually inaccessible to short-read methods. It resolves structural variants and repeat expansions and captures epigenomic information in parallel to give researchers a multidimensional view of the genome.
By applying PacBio’s HiFi long-read sequencing to this early-stage initiative, researchers can gain a better understanding of the genome and potentially capture a wider spectrum of genetic risk at birth.
“This collaboration demonstrates how advanced sequencing technologies like HiFi can enable broader insights at birth,” said PacBio president and CEO Christian Henry.
“It’s deeply aligned with our mission at PacBio to make high-quality genomic information accessible where it’s needed most, and we’re proud to support Chulalongkorn University and Thailand as they lead the way in laying the foundation for a new model of care.”
Last month, PacBio supported the Davos North African Dementia Registry project with its advanced sequencing technology to generate insights.
