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Study Description

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.

  • Study Types: Longitudinal, Prospective
  • dbGaP estimated ancestry components using GRAF-pop
  • Number of study subjects that have individual level data available through Authorized Access: 1024

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

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
  • Molecular Data
    TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
    Whole Genome Genotyping Affymetrix Axiom Genome-Wide EUR Array N/A N/A
    Study History

      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

    Selected publications
    Diseases/Traits Related to Study (MESH terms)
    Authorized Data Access Requests
    Study Attribution