Boston Children's Hospital to sequence 3K patients' DNA to study epilepsy, digestive disease

Boston Children's Hospital plans to expand its genomics database by sequencing the DNA of 3,000 patients and their family members, the hospital's Chief Scientific Officer David A. Williams, MD, said Aug. 7.

The expansion is part of a targeted study into epilepsy and inflammatory bowel disease. Under the program, the hospital will roll out a streamlined process for obtaining patient consent for research and linking participants' genetic data with clinical information stored in EHRs.

Although the program is primarily a research initiative, collaborating seizure and inflammatory bowel disease experts at the hospital will also offer patients disease-specific genetic interpretation to inform diagnoses and treatments.

"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," Kevin B. Churchwell, MD, executive vice president of health affairs and COO at Boston Children's Hospital, said in a news release.

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