We met with our external advisory board that includes Dan Masys, Eric Perasklis, Lisa A. Cannon-Albright, Peter Tarczy-Hornoch, Valerie Florance and George Hripcsak.
Isaac Kohane reviewed i2b2 impact and questions for the EAB.
Kat Liao presented the RA DBP and the genetic risk score and it's nice superimposition on larger, more expensive, longer studies. She also described NLP algorithm portability (to NorthWestern U. and Vanderbilt). She also described interesting interactions between lipid levels, lipid-informing genotypes, RA risk genotypes and heart disease.
Ashwin N. Ananthakrishnan described the early work on the IBD DBP that is already accumulating samples and some intriguing early findings regarding vitamin D.
Zongqi Xia described the multiple sclerosis DBP which brings together EMR textual contents (through NLP), volumetric analyses (from clinical imaging of the CNS) and clinical outcomes.
Stan Shaw provided an overview of the challenge of characterizing and stratifying type 2 diabetes mellitus genetically and phenotypically. He also demonstrated how many of the biomarkers we are used to studying for cardiovascular risk are typically not studied longitudinally in patients akin to the virtual cohort
Tianxi Cai painted the road ahead. She articulated two questions of interest: who are the likely treatment responders and who are members of high risk populations? By way of example, she described investigations she has performed with conventional cohort studies (as a prelude to EHR studies) to define what is the incremental value of a biomarker (e.g. CRP). She demonstrated how subgroup analyses are clarifying with regard to highlighting the actual contribution of any specified biomarker to clinical decision-making.
Mark Natter spoke of the huge national investment in registries and the very large tail of ongoing investment on pre-existing registries. He also summarized the problem with existing registries. He summarized the CARRAnet i2b2 registry experience with over 8000 pediatric rheumatology patients (20K total) with 31,000 detailed visit records so far. Each investigator has full access to their own data and aggregate views across the entire registry's network.
Shawn Murphy gave a broad technical update on i2b2 and a glimpse of the future roadmap. This included the clinical trials capabilities, augmentation with SMART apps, episode of care analyses, and additional new modules.
The EAB then went into executive session.
