Illumina, CHOP Genomics Center Partner on 100K Genome Dataset

The collaboration will create one of the largest pediatric genomic datasets and support faster care for patients across the US.

Illumina and the Children’s Hospital of Philadelphia’s Center for Data-Driven Discovery in Biomedicine (D3b) announced on April 14 a partnership to advance research in pediatric cancer and rare disease.

At the heart of the initiative, D3b is analyzing 100,000 whole genomes from pediatric patients using Illumina software. The data will be made available through the Gabriella Miller Kids First Data Resource Center (DRC), where researchers and clinicians can conduct real-time analysis across cohorts.

The dataset will include whole genomes from patients with rare congenital conditions and cancers, collected through federally-funded programs, including the Kids First DRC and the Children’s Brain Tumor Network.

Illumina will also join D3b in supporting the Pediatric Care eXpansion (PCX) program of the Advanced Research Projects Agency for Health (ARPA-H), a funding agency within the U.S. Department of Health and Human Services. The effort aims to shorten the care journey for patients expanding data-sharing capabilities across a national data exchange spanning more than 200 pediatric institutions in the US.

Financial details of the collaboration were not disclosed.

“Our goal is to empower researchers to uncover new biological signals and to bring genomic insights into routine clinical decision-making, creating a new standard of care,” Allison Heath, director of Data Technology and Innovation at D3b, said in a statement.