Boston Children's Launches Sequencing Initiative Focused on Epilepsy, IBD

August 7, 2018
Boston Children's Launches Sequencing Initiative Focused on Epilepsy, IBD
Boston Children’s Hospital plans to sequence the DNA of 3,000 patients with epilepsy or inflammatory bowel disease and their family members, in an expansion of its BCH Connect research genomics gateway. [Source: © Sebastian Kaulitzki/Fotolia]

Boston Children’s Hospital said today it plans to sequence the DNA of 3,000 patients with epilepsy or inflammatory bowel disease and their family members, in what it called a strategic initiative to expand its research genomics gateway.

Patients with epilepsy or inflammatory bowel disease of likely genetic origin, undiagnosed after initial clinical genetic testing, will have access to enroll in the genomic sequencing pilot study. While the initiative is aimed at scientific discovery, sequencing will be performed under CLIA conditions, so results will also inform patients' diagnoses and treatments, Boston Children’s said.

The program will include a streamlined process for consenting patients and rapid linkage of their genetic data with clinical data from their electronic health records, the hospital said.

“In some cases, we may also identify new targets for the development of novel therapies,” Boston Children’s CSO David A. Williams, M.D., said in a statement. “We believe the combination of disease expertise and large, well characterized patient populations provides Boston Children's with a unique opportunity to enhance our understanding of disease processes while providing patients with enhanced diagnostics.”

Boston Children’s said it is advancing its initiative through expanded vendor relationships with GeneDx and WuXi NextCODE. GeneDx has agreed to provide DNA sequencing services and clinical confirmation of genetic diagnoses. WuXi NextCODE has agreed to use its integrated diagnostics and research database platform, which is intended to enabling hospital researchers to interpret genetic variants more easily, compare them with public genomic databases, and quickly cross-reference relevant reports in the medical literature.

The laboratories of Annapurna Poduri, M.D., MPH, and Scott Snapper, M.D., Ph.D., will contribute disease-specific genetic expertise and interpretation.

Dr. Poduri directs the Epilepsy Genetics Program and co-directs the Neurology Department's Neurogenetics Program at Boston Children’s, while Dr. Snapper is director of the hospital’s Inflammatory Bowel Disease Center, and the Wolpow Family Chair in IBD Treatment and Research. Dr. Snapper also co-leads the Roadmap to the Cure of Early Childhood IBD project, an international consortium focused on infantile and very early onset IBD (VEO-IBD) sequencing, consisting of clinicians and scientists from North America, Europe, Australia, South America, Israel, and the Middle East.

Other professionals supporting implementation of the initiative include Piotr Sliz, Ph.D., Chief Research Information Officer; Shira Rockowitz, Ph.D., Research Computing Genomics Lead; and the Experimental Therapeutics Unit of the Institutional Centers for Clinical and Translational Research.

The initiative will also use BCH Connect, the Boston Children's genomics gateway that has already compiled a database of DNA sequences from more than 4,000 people whose diseases are being studied by researchers throughout the hospital. BCH Connect was first deployed at Boston Children's in 2016 to integrate and harmonize genomic data for 130 researchers across the hospital.

BCH Connect leverages WuXi NextCODE's proprietary database technology originally developed at deCODE Genetics in Iceland for the analysis, management, storage, sharing and interpretation of genomic data.

“This project leverages our outstanding disease expertise, patient populations and world-leading science to advance understanding of rare diseases,” added Boston Children’s President and CEO Sandra Fenwick. “By accelerating genomic sequencing, analysis and the clinical confirmation of genetic diagnoses, this initiative will help us bring the bench closer to the bedside.”