New collaboration to study early detection of developmental differences in children

Reviewed by Emily Henderson, B.Sc.Apr 29 2021

The University of Washington's School of Medicine Brotman Baty Institute for Precision Medicine is collaborating with Illumina, Inc. and GeneDx, Inc., a wholly owned subsidiary of BioReference Laboratories, Inc., an OPKO Health company, to study early detection of developmental differences in children.

The project, SeqFirst, will provide early access to whole-genome sequencing (WGS) to 100 children suspected of having developmental differences at the point of diagnosis.

Scientists anticipate this will lead to earlier, more rapid diagnoses, as well as lowering health care costs and improving subsequent treatment for these children. Illumina will support the study by providing advanced sequencing reagents and GeneDx will perform state-of-the-art diagnostic WGS.

This is an ambitious endeavor to build equity for all children who might benefit from whole genome sequencing. Such an undertaking would not be possible without the support and collaboration of Illumina and GeneDx."

Dr. Michael Bamshad, Project Principal Investigator

"Through SeqFirst, we expect to further demonstrate the value of early genetic sequencing for children with developmental disorders," said Kyle Retterer, Senior Vice President and Chief Technology Officer for GeneDx. "Providing answers to as many people as possible remains at the forefront of GeneDx's mission, and WGS is our most powerful and effective tool yet for providing rapid answers and ending the diagnostic odyssey before it begins."

"WGS can dramatically reduce the time it takes to diagnose genetic conditions, which can improve patient outcomes," said Jeremy Preston, vice president for regional and segment marketing at Illumina. We are proud to support the University of Washington and GeneDx and help families find the peace-of-mind that comes with a diagnosis for their child."

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.

The SeqFirst study also includes a second and separate endeavor, providing WGS for critically ill infants immediately upon hospitalization at Seattle Children's Hospital. GeneDx will provide the laboratory-based testing, and with Seattle Children's Hospital, this portion of SeqFirst plans to enroll 100 patients in neonatal intensive care units.

With this additional effort, Bamshad and BBI researchers hope to show improved outcomes due to earlier diagnoses and demonstrate the cost effectiveness of WGS as a first line test.