Report on the 2013 AMIA Summit on Translational Bioinformatics
by Judith Kammerer, MLIS, MA, AHIP
UCSF Fresno and Community Regional Medical Center
The American Medical Informatics Association (AMIA) has organized an annual summit on translational bioinformatics (TBI) since 2008. I was fortunate to attend the 2013 Summit, which took place in San Francisco, CA, on March 18-20, 2013. This was made possible by an NN/LM PSR Professional Development Award, that supports hospital librarians in attending continuing education workshops and conferences.
Medical librarians are most likely familiar with the concept of translational medicine (TM) in terms of moving new insights based on biological discoveries from the realm of basic research into useful clinical applications to improve health. TM is based on a multidimensional, collaborative, fluid, iterative model (condensed version: research “bench” < > clinical “bedside” < > community < > policy). Health sciences librarians may also have a good understanding of the key role biomedical informatics plays in managing the enormous amount of data, information, and knowledge being generated in the continuum of translational medicine (bioinformatics, imaging informatics, clinical informatics, & public health informatics). But what many medical librarians may not realize is that they can play a role as facilitators to enable effective communication to TM collaborators in the areas of information retrieval and electronic health record (EHR) systems. My goal in attending this summit was to get a more in-depth understanding of how the areas of “translational medicine” and “biomedical informatics” intersect with the scope of practice for “health information and knowledge management professionals.”
I began the conference with a three-hour tutorial, “Introduction to Translational Bioinformatics,” presented by Yves Lussier and Marciel Kann. They gave a comprehensive, “moving-target” picture of TBI, involving rapidly evolving research and technology. For instance, “SNPs” (single nucleotide polymorphisms) was the buzz word in previous summits, but now we realize it is not that clear what is a disease mutation versus a polymorphism, so we are talking more about “variants” at this point. The aspect of this tutorial that hit me the most was the same thing that stood out at all the subsequent presentations, panels, poster sessions, and keynotes, and that was a palpable feeling of excitement at being part of a forum with leaders in informatics, who play a key role at the point where biology and health care intersect. Of note is that four of the thirty participants in this full class were health sciences librarians!
During the 3-day conference, I moved through keynotes, panel discussions, paper and poster presentations, and topic reviews, that provided updates on the current state of TBI. I learned enough to want to read more about and investigate many resources, for example:
ENCODE (Encyclopedia of DNA Elements), HPRD (Human Protein Reference Database), phenotypic data in PubMed, GenBank, 1000 Genomes Project, UK10K, NHGRI (National Human Genome Research Institute), dbGaP (database of Genotypes & Phenotypes), TCGA (The Cancer Genome Atlas), Personalis (Genome Services for Research), P4 Medicine, NCBI’s GeneTests, PharmGKB (Pharmacogenomics Knowledgebase), eMERGE Network (electronic medical records & genomics), NCBI’s ClinVar (find clinical assertions for a gene), tranSMART (global open source informatics & data sharing platform), NIF (neuroscience information framework), and MVP (Million Veteran Program).
The closing session was Translational Bioinformatics 2013: The Year in Review, by Russ Altman. His 91 slides summarized his top picks of TBI published articles in 2012. It was a great way to end a fascinating conference, that did a great job of communicating the far-reaching potential of TBI and the positive impact it will undoubtedly have on health care!