The Gene Partnership (TGP) - eMERGE Data

The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "The Gene Partnership" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the Pediatric Alliance for Genomic and Electronic Medical Record (EMR) Research (PAGER) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.]]>
Inclusion Criteria: Patients seen in the DMC, Genetics Division, Gastroenterology (GI), Endocrinology, Inpatient Medical Service and the Emergency Department at BCH and their parents, siblings, and family members of interest (if available). Patients referred through the Manton Center and their parents, siblings, and family members of interest (if available). People (families or adults) who self-refer and contact the Gene Partnership study staff directly. People who are enrolled in other studies/research registries and have indicated their interest in being contacted about future research. Exclusion Criteria: None]]>
February 2009 − IRB approval October 2009 − enrollment initiated in the Developmental Medicine clinic March 2010 − enrollment initiated in the Genetics clinic April 2010 − enrollment initiated in the Emergency Department and Inpatient Medical Service July 2010 − enrollment initiated in the Gastroenterology clinic June 2011 − enrollment initiated in the Endocrinology clinic August 2011 − participants in a congenital heart disease study and autism study offered enrollment in TGP March 2012 − Genotyping completed ]]>