[GET-dev] Notes from CGC

Kimberly Robasky krobasky at gmail.com
Thu Jun 3 12:08:17 EDT 2010

Heidi Rehm just presented "PGE" - Patient Genome Explorer, an
interface to a centralized database of genetic variants that
clinicians can use to evaluate their patients and update information
about variants.  She also made a plea for more work to be done in this
direction, publishing findings instead of hoarding them in proprietary
databases.  Robert Green (BU) interpreted remarks by Dr. Brandon Colby
(Existence Genetics) as a suggestion for Heidi to take her PGE
interface and "dumb it down a little bit".

Sample reports from Existence Genetics found at the following link
(the dials are reminiscent of some of Sasha's user interface
suggestions for GET):

Misha Angrist sparked conversation surrounding evidence-based medicine
and that we need a new, scalable approach.  B. Colby suggested we
don't necessarily need to wait to get started producing genetic

Colby says "we are in the process of translating [the human genome
project] into actionable, useful information and we're on the right

Deitrich Stephan (Ignite Institute) says we should focus on cancer.

Heidi Rehm says "the success of a democracy is an educated
populace..but we can't depend too much on the uneducated part of our
population - share information at a highly educated level with strict
nomenclature, and at the same time find a way to translate that
information [to the masses]".

Robert Green says we have two axes: evidence-based, which means
waiting for more analysis, and immediate application which risks
pseudo-scientific analysis.

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