Brotman Baty Institute Collaborates with Illumina and GeneDx on Whole-Genome Sequencing Study to Support Families of Children with Developmental Differences

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.



SEATTLE and GAITHERSBURG, MD. (April 28) – The University of Washington’s School of Medicine Brotman Baty Institute for Precision Medicine is collaborating with Illumina, Inc. (Nasdaq: ILMN) 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,” said Dr. Michael Bamshad, the project’s principal investigator. “Such an undertaking would not be possible without the support and collaboration of Illumina and GeneDx.”

“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.

For more information about the SeqFirst study, visit:


Dean R. Owen, Director of Communications The Brotman Baty Institute for Precision Medicine at the University of Washington’s School of Medicine; Cell: +1.253.906.8645

Hillary Titus, GeneDX

About the Brotman Baty Institute The Brotman Baty Institute for Precision Medicine, or BBI, was founded in November 2017 by UW Medicine, the Fred Hutchinson Cancer Research Center, and Seattle Children’s. Its mission is to have a transformative impact on biomedical research and patient outcomes through the development and application of precision approaches to healthcare. Its world-renowned investigators work together on shared scientific interests in areas including medical genetics, cancer biology, infectious disease, and technology development.

About GeneDx, Inc. GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families from more than 55 countries. Led by its world-renowned clinical genomics program, GeneDx has an acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics, and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit



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