Gene by Gene has announced a research collaboration with Children’s Mercy to provide Whole Genome Sequencing (WGS) services supporting the Children’s Mercy Research Institute’s precision medicine initiatives, including its Genomic Answers for Kids (GA4K) program. The partnership aims to expand genomic research capabilities and improve understanding of rare and difficult-to-diagnose genetic conditions affecting children.
The GA4K initiative focuses on identifying genetic causes of pediatric diseases through large-scale genomic analysis. The program aims to collect genomic data and associated health information from 30,000 children and their families, establishing a research repository comprising approximately 100,000 genomes.
Under the agreement, Gene by Gene will contribute its high-throughput sequencing infrastructure and genomic expertise to support the generation of research data at scale. The collaboration is intended to facilitate the identification of genetic variants associated with rare conditions and support further investigation into previously unresolved diagnoses.
Children affected by rare genetic diseases frequently experience prolonged diagnostic processes involving multiple specialists, extensive testing, and inconclusive findings. Whole Genome Sequencing offers a comprehensive assessment of genetic variation, including genomic regions that may not be examined through targeted sequencing approaches.
The partnership focuses on three research priorities: expanding the identification of potentially disease-associated genetic variants, supporting large-scale sequencing with consistent data quality, and enabling researchers to revisit existing genomic datasets as scientific understanding evolves.
"Providing Whole Genome Sequencing capabilities to an institution like Children's Mercy represents exactly where we believe genomics can make an extraordinary impact," said Dr. Lior Rauchberger, CEO of Gene by Gene. "Behind every genome is a child and a family looking for answers. Our role is to provide the sequencing infrastructure and expertise that enables researchers to search deeper, work at greater scale, and ultimately move closer to those answers."
Gene by Gene brings more than two decades of genetic testing experience and operates laboratories accredited by multiple regulatory and professional organizations, including CAP, CLIA, and AABB.
The collaboration reflects increasing investment in large-scale genomic research infrastructure, with the potential to improve disease characterization, support future diagnostic approaches, and inform precision medicine strategies for pediatric patients with rare genetic conditions.
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