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All patients entering Children's Hospital Boston will soon be able to take part in genetic research—as equal, active partners. That's the ultimate goal of the Gene Partnership Project (GPP), launching this spring through a collaboration between Children's Program in Genomics, Division of Genetics, Informatics Program and Information Services Department.
Patients in Children's Developmental Medicine Center and the new Manton Center for Orphan Disease Research will be the first ones invited to join. If they do, they will get a lifelong electronic health record that is under their personal control (or, initially, that of a guardian), called Indivo. They'll next 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 then opt to receive the results of studies relevant to them, through specially crafted software that protects their anonymity. An independent oversight board will review study data as it emerges, determine whether it warrants contacting participants and craft the messages so they're clear and useful to recipients. If they wish, patients can also be alerted to incidental, actionable findings in their DNA. A young athlete with a mutation known to cause long QT syndrome, for example, could start medications to prevent sudden cardiac death.
All this is a far cry from the usual research situation, in which DNA samples are collected for a single, one-time study. Typically, once their blood is drawn or saliva spat into a cup, patients never hear from the researchers again.
Indeed, patients can remain in the GPP for life, allowing investigators to examine their disease patterns over time—along with environmental and lifestyle factors that influence how their genetic "deck" is played out. Ultimately, Children's wants to join with other institutions to get population-wide data—especially needed to study rare diseases and those caused by multiple genes.
"I'm thinking 20 years down the line," says Louis Kunkel, PhD, director of the Program in Genomics. "A rare genetic variant might predispose you to diabetes, but environmental exposures might influence your risk. If I had longitudinal data from hundreds of thousands of subjects, I might be able to fathom out which people with the variant had that exposure, and calculate their actual risk for disease."
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