Canadian life sciences company PacBio has announced the launch of the HiFi Solves Sub-fertility Consortium, a collaboration between five leading medical centers across the Asia-Pacific region. The consortium, spearheaded by KK Women’s and Children’s Hospital (KKH) in Singapore, aims to utilize PacBio HiFi long-read sequencing technology to enhance the diagnosis and treatment of subfertility and recurrent pregnancy loss (RPL).
The initiative is designed to improve outcomes for individuals affected by subfertility and RPL by leveraging PacBio HiFi sequencing, which offers a more comprehensive view of genetic abnormalities than traditional methods such as karyotyping, chromosomal microarray, and whole-exome sequencing. Unlike these approaches, HiFi sequencing can detect complex chromosomal rearrangements and sub-microscopic abnormalities that are often missed, providing a more precise diagnosis.
“The formation of the HiFi Solves Sub-fertility Consortium is a significant step forward in fertility research,” said Christian Henry, President and CEO of PacBio. “By bringing together leading experts and leveraging the power of HiFi sequencing along with DNAstack’s federated data platform, we are poised to make substantial advancements in the diagnosis and treatment of subfertility and recurrent pregnancy loss.”
The consortium also includes experts from prestigious institutions such as the Center of Excellence for Medical Genomics at Chulalongkorn University in Thailand, Changhua Christian Hospital Medical Center in Taiwan, and Seoul National University College of Medicine and CHA Bundang Medical Center in South Korea. These experts will collaborate under the leadership of Associate Professor Saumya S. Jamuar, exploring the use of PacBio HiFi long-read sequencing to identify genetic factors contributing to subfertility and RPL.
The collaboration is supported by DNAstack’s federated data platform, which allows for global collaboration on complex genomic datasets without moving the data, ensuring compliance with regional data governance and the security of sensitive genomic information.
Subfertility affects approximately one in six people globally, while recurrent pregnancy loss impacts 1-2% of women. These conditions can cause significant emotional and financial strain. The HiFi Solves Sub-fertility Consortium seeks to reduce the time it takes for patients to receive accurate diagnoses and effective treatments. By improving the success rate of assisted reproductive technologies, such as preimplantation genetic testing for structural rearrangements, the consortium hopes to increase conception rates and healthier pregnancies.
The consortium’s work will continue through the end of 2025, with a phased approach that includes patient recruitment, advanced sequencing, bioinformatics analysis, and validation of results. The ultimate goal is to influence global clinical practices, with findings to be shared in peer-reviewed journals and presented at international conferences.
“The potential impact of this consortium is significant,” added Christian Henry. “We hope to streamline the diagnostic process for patients, reducing the often-frustrating ‘diagnostic odyssey’ and providing more effective, personalized care for those affected by subfertility and RPL.”
