Illumina Launches WGS Study with European Newborn Sequencing Projects
Illumina will reanalyze genomes from children with unresolved cases and, for select patients, re-sequence their genomes using the new TruPath assay.
Illumina has launched a new whole-genome sequencing (WGS) and genome reanalysis study of critically ill children with unresolved diagnoses.
Announced June 15 at the annual meeting of the European Society of Human Genetics, the Beyond GiICS (Genomics in the Infant Intensive Care Setting) study will sequence genomes for 400 unresolved cases drawn from “baby animal” sequencing projects across Europe and the Middle East, including Germany’s Baby Lion, Spain’s Baby Lynx, Israel’s Baby Bambi, and the United Arab Emirate’s Little Falcon projects.
In the first phase, Illumina will reanalyze existing short-read WGS data using proprietary bioinformatics tools including DRAGEN, Emedgene, as well as AI-based tools such as SpliceAI, PrimateAI-3D, and PromoterAI.
In a second phase, Illumina will resequence selected cases using its recently announced TruPath Genome, followed by analysis with DRAGEN and Emedgene.
“The primary hypothesis is that a sequential analysis strategy — combining harmonized reanalysis of short-read WGS followed by TruPath Genome sequencing — will result in an incremental detection rate of up to approximately 12 percent in previously unsolved neonatal and pediatric intensive care unit cases, beyond the initial short-read WGS analysis,” an Illumina spokesperson said in an email.
More than a 10 percent increase in diagnostic yield would is ambitious. In late 2025, researchers from Children’s Mercy Kansas City published a study in JAMA Pediatrics that compared long-read WGS from Pacific Biosciences against a quiver of other genetic testing methods, including targeted sequencing, cytogenetics, and microarrays. That increased diagnostic yield by approximately 10 percent.
Rapid newborn sequencing studies in the US have already shown a diagnostic yield of around 30 percent, and even 40 percent in the case of California’s Project Baby Bear pilot study.
Illumina has helped coordinate participating centers, support the study design, and will enable harmonized analysis across sites. Other countries include Austria, Czechia, and Turkiye. “This effort builds on discussions initiated by Illumina’s Medical Affairs team in 2024, when Illumina began organizing meetings across the different Baby studies to understand their priorities and identify areas for collaboration,” the company spokesperson said.
The number of cases in the study is an estimate of unresolved cases across the participating Baby studies that could be consented and enrolled into the Beyond GiICS study, Illumina said. It expects to complete the study by the end of 2027.