Skip to main content
Premium Trial:

Request an Annual Quote

Illumina, GeneDx Partner With University of Washington on Whole-Genome Sequencing Study in Kids

NEW YORK – Illumina, GeneDx, and the University of Washington School of Medicine Brotman Baty Institute for Precision Medicine are collaborating on a study using whole-genome sequencing to diagnose children with suspected developmental differences and critically ill infants.

The SeqFirst study will provide WGS to 100 children suspected of having developmental differences. GeneDx will perform sequencing with reagents provided by Illumina. Researchers will review medical records of participants for two years after enrollment and complete the study in three years. After one year, the team will report interim results and make recommendations for improvements to existing policies in genetic testing.

In another branch of the study, the researchers will provide WGS for critically ill infants immediately upon hospitalization at Seattle Children's Hospital. GeneDx will provide the laboratory-based testing. SeqFirst hopes to enroll 100 patients in neonatal intensive care units, or NICUs, and show improved outcomes due to earlier diagnoses and demonstrate the cost effectiveness of WGS as a first-line test.

In August 2020, GeneDx, part of Opko Health, signed a deal to provide genomic services to NICUs associated with Pediatrix Medical Group.

In August 2019, Illumina launched a newborn sequencing study with the Children's Hospital of Fudan University in China.

The Scan

Nucleotide Base Detected on Near-Earth Asteroid

Among other intriguing compounds, researchers find the nucleotide uracil, a component of RNA sequences, in samples collected from the near-Earth asteroid Ryugu, as they report in Nature Communications.

Clinical Trial Participants, Investigators Point to Importance of Clinical Trial Results Reporting in Canadian Study

Public reporting on clinical trial results is crucial, according to qualitative interviews with clinical trial participants, investigators, and organizers from three provinces appearing in BMJ Open.

Old Order Amish Analysis Highlights Autozygosity, Potential Ties to Blood Measures

Researchers in BMC Genomics see larger and more frequent runs-of-homozygosity in Old Order Amish participants, though only regional autozygosity coincided with two blood-based measures.

Suicidal Ideation-Linked Loci Identified Using Million Veteran Program Data

Researchers in PLOS Genetics identify risk variants within and across ancestry groups with a genome-wide association study involving veterans with or without a history of suicidal ideation.