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All patients entering Children's will eventually be able to take part in genetic research—as active partners. That’s the goal of the Gene Partnership Project (GPP), a collaboration between Children's Program in Genomics, Division of Genetics, Informatics Program and Information Services Department.
The project will launch in the Developmental Medicine Center and the new Manton Center for Orphan Disease Research, going hospital-wide as funds become available. Patients who opt in will get a lifelong electronic health record, called Indivo, that is under their personal control (or, if under 18, that of a guardian). They'll then provide a DNA sample, which will enter a central repository, and enroll in a registry, giving researchers permission to include them in studies.
Patients can choose to receive the results of relevant studies through software that protects their anonymity. An independent oversight board will decide whether the results truly warrant contacting patients, and how to word the messages. Patients can also choose to be alerted to incidental, actionable findings in their DNA. A young athlete with a mutation causing long QT syndrome, for example, could start anti-arrhythmic medication.
Because patients can remain in the GPP for life, their disease patterns can be tracked over time—along with environmental and lifestyle factors that influence gene expression. Ultimately, Children's hopes to join with other institutions to get population-wide data—especially needed to study rare and multi-gene diseases.
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