Our Poster at American Society of Human Genetics in Boston

IMC Genomics was proud to participate in the American Society of Human Genetics (ASHG) 2025 Annual Meeting in Boston, one of the world's premier conferences in human genetics and genomics research. Our team presented a poster highlighting our work in prenatal genetic screening validation and quality benchmarking.

The poster, titled "Validation of a Cell-Free DNA-Based Non-Invasive Prenatal Screening Workflow on the Illumina NextSeq 2000 Platform," detailed our rigorous validation process for NIPT testing. The study demonstrated concordance rates exceeding 99.5% for trisomy 21, 18, and 13 detection when benchmarked against established reference laboratories, confirming that our workflow meets international clinical standards.

Presenting at ASHG represents more than just sharing data — it signals that laboratories in Central Asia can perform at the same level as established centers in Europe and North America. Our poster generated meaningful conversations with researchers from leading institutions who expressed interest in collaborative validation studies and data sharing initiatives.

Key findings from our research included analysis of over 2,000 NIPT samples processed through our pipeline, demonstration of consistent performance across varying fetal fractions (from 4% to over 30%), and validation of our sex chromosome aneuploidy detection capabilities. We also shared preliminary data on the integration of AI-assisted quality metrics that flag potential false positives before clinical review.

The ASHG conference also provided an opportunity to connect with technology partners and learn about emerging developments. Discussions around cell-free DNA fragmentomics, methylation-based screening, and multi-cancer early detection were particularly relevant to our future roadmap.

For our referring physicians and partners, our ASHG participation underscores our commitment to transparency and evidence-based practice. Every test we report is backed by validated protocols that have been scrutinized by the international genetics community.

We look forward to continuing this research and presenting updated findings at future conferences, including the European Society of Human Genetics (ESHG) meeting.