As reported in EurekAlert! Boston Children’s Hospital is to work with patients with epilepsy and inflammatory bowel disease to have DNA sequencing as part of a targeted study to link deep phenotypes with genotypes.
Boston Children’s Hospital has embarked on a strategic initiative to expand its research genomics gateway, with plans to sequence the DNA of 3,000 patients with epilepsy or inflammatory bowel disease and their family members.
The program, announced today by Chief Scientific Officer David A. Williams, MD, includes a streamlined process for consenting patients and rapidly linking their genetic data with clinical data from their electronic health records. Although the initiative is aimed at scientific discovery, the sequencing will be performed under clinical-grade (CLIA) conditions, so results will also inform patients’ diagnoses and treatments.
“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,” says Williams. “In some cases, we may also identify new targets for the development of novel therapies.”
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.
The endeavor is being advanced by expanded vendor relationships with GeneDx (Gaithersburg, MD) and WuXi NextCODE (Shanghai, China, Reykjavik, Iceland, and Cambridge, MA). GeneDx is providing DNA sequencing services and clinical confirmation of genetic diagnoses, while WuXi NextCODE’s integrated diagnostics and research database platform is enabling Boston Children’s researchers to more easily interpret genetic variants, compare them with public genomic databases and quickly cross-reference relevant reports in the medical literature.
Seizure expert Ann Poduri, MD, MPH; inflammatory bowel disease expert Scott Snapper, MD, PhD; and their labs will provide disease-specific genetic expertise and interpretation. Both already use DNA sequencing as part of their practice and care for large numbers of patients with these diseases.
“This project will enable us to tap the power of genomics, our disease cohorts and our outstanding faculty expertise in these diseases in a very focused but also broader fashion,” says Kevin B. Churchwell, MD, Executive VP of Health Affairs and Chief Operating Officer at Boston Children’s. “We will not only identify new targets for drug and biological therapy development but also will be able to provide families with answers more quickly while offering the best possible care.”
Building a genomics knowledge base
For data analysis, the initiative will use BCH Connect, the Boston Children’s genomics gateway, 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.
Within BCH Connect, Boston Children’s has already compiled a database of DNA sequences from more than 4,000 people whose diseases are being studied by researchers throughout the hospital.
“By accelerating genomic sequencing, analysis and the clinical confirmation of genetic diagnoses, this initiative will help us bring the bench closer to the bedside,” says Sandra Fenwick, President and Chief Executive Officer of Boston Children’s. “This project leverages our outstanding disease expertise, patient populations and world-leading science to advance understanding of rare diseases.”
The genomic initiative is being implemented with support from Piotr Sliz, PhD, Chief Research Information Officer; Shira Rockowitz, PhD, Research Computing Genomics Lead; the Experimental Therapeutics Unit of the Institutional Centers for Clinical and Translational Research; the laboratories of Drs. Poduri and Snapper; and the broader genomics community at the hospital.
Dr. Snapper directs Boston Children’s Center for Inflammatory Bowel Disease and is the Wolpow Family Chair in IBD Treatment and Research. He is a leader of an international infantile and very early onset IBD (VEO-IBD) sequencing effort. Dr. Poduri directs the Epilepsy Genetics Program, co-directs the Neurology Department’s Neurogenetics Program, and is a key participant in epilepsy genetics research at the local, national, and international levels.