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Tools and Equipment of Science

Author(s): Roberta Anding, MS, RD/LD, CDE
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A Model: Research and Clinical Practice

Edited Transcript from “The Pathway to Genomic Medicine,” Richard Gibbs, PhD*
Here’s something of a model of how this might fit together. I’m sure many of you could add to the model. The idea is that if you were facilitated in your clinical and clinical science practices for sample archiving, and doing it in a way that was commensurate both with the patient record requirements and with the ELSI requirements, that would be a great asset both to you and to the research community here. The community presumably then could, through a proper but minimal development of protocols, access those sample collections in collaboration but without the onerous mechanics that are currently needed. They could access those samples and the accompanying data in order to do research activities that are not moving mountains, but are simply accessing this large body of data. I think that sounds like a pipe dream, but that, to me, is almost a prerequisite for pushing us into this next phase. Of course, the notion is that genetic diagnostics, I call it “plug and play diagnostics,” and those assays that are already calibrated and working, that you can access, would be an intimate part of this. But really, we want to press that up against these developing techniques. I mean, you can’t get a genome sequence now, but the minute you can, you’d want to have it somehow running through that “plug and play” arena there so it can be properly used by the clinician. So I think these two elements are really things that we all might want to press on.

* Notes in this slide presentation are adapted from the transcript of “The Pathway to Genomic Medicine,” a presentation by Richard Gibbs, PhD, given in August 2007, as part of Baylor College of Medicine’s Department of Medicine Grand Rounds Human Genetics Symposium.