PacBio HiFi Sequencing Identifies Genetic Causes in ~10% of Subfertile Couples
PacBio’s HiFi long-read sequencing was applied to 84 participants across five Asia-Pacific institutions to investigate unexplained subfertility and pregnancy loss. The study identified clinically relevant findings in ~10% of couples and diagnostic findings in 4.8% of individuals, demonstrating HiFi’s potential as a first-line genomics test.
1. Study Overview
The HiFi Solves Sub-fertility Consortium in Asia-Pacific enrolled 96 individuals (47 couples and two singles) across five leading centers in Singapore, South Korea, Thailand and Taiwan. Of these, 84 underwent PacBio HiFi whole genome sequencing, enabling a unified workflow to assess multiple variant types in one assay for unexplained subfertility and pregnancy loss.
2. Key Findings
HiFi sequencing improved resolution of complex and repetitive regions and captured shared genetic contributions between partners. Clinically relevant variants emerged in approximately 10% of couples, with diagnostic findings in 4.8% of individuals and additional variants of uncertain significance highlighting areas for future research.
3. Next Steps and Impact
The consortium plans to expand recruitment across additional Asia-Pacific sites and explore scalable, cost-efficient sequencing workflows for broader reproductive genomics studies. Validating HiFi as a first-line test could accelerate adoption of PacBio’s products in clinical genetics and open new revenue opportunities.