Democratising genomic diagnostics: a new model for global childhood cancer care

Childhood cancers are now curable for up to 85% of children with access to contemporary treatments and care. However, global survival rates are closer to 20% for children in resource-limited settings, with diagnostic challenges remaining a critical barrier.

In this talk, Dr. Nickhill Bhakta describes how the St. Jude-led DIVIA consortium is developing and evaluating approaches to expand access to high-quality diagnostic testing through a global network. This includes the exploration of Oxford Nanopore sequencing technologies, such as adaptive sampling.

You will learn:

• The potential of whole genome sequencing with adaptive sampling targeted enrichment to consolidate multiple data types—such as structural variation, copy number changes, and methylation signals—within a single workflow.

• Insights from multi-site evaluation studies assessing feasibility, workflow performance, and concordance with existing diagnostic methods.

• Considerations for cost, infrastructure, and implementation when evaluating genomic technologies in low- and middle-income countries.