Jun
23
Thu
BMIR SPECIAL RESEARCH COLLOQUIUM: “Critical Care endotypes: Collecting and analyzing large datasets to optimize diagnosis in the ICU” @ MSOB, Conference Room X-275
Jun 23 @ 4:00 pm – 5:15 pm

David Maslove

David Maslove, MD, MS
Assistant Professor
Department of Medicine and Critical Care
Queens University

ABSTRACT:
The diseases treated in the Intensive Care Units (ICU) are syndromic in nature, largely defined by a number of vague or arbitrary criteria. As a result, there exists significant case mixing within ICU syndromes, whereby different syndrome subtypes – or endotypes – are all treated the same way. This limits the effectiveness of evidence-based practices evaluated in large clinical trials, and makes critical care particularly suitable to a precision approach. Further enabling this approach is the incredible abundance of data generated in the ICU, upon which distinctions between patients can be made. Making the most of these data requires that they be systematically collected, vetted, merged, and analyzed, ideally in a near real-time environment that respects the fast-paced nature of ICU practice. We will explore some key challenges to this approach, with a focus on specific examples involving physiologic, clinical, and genomic data generated from critically ill and injured patients.

Nov
2
Thu
BMIR Research Colloquium: Teri Klein “Pharmacogenomics Knowledge for Personalized Medicine” @ MSOB, Conference Room X-275
Nov 2 @ 12:00 pm – 1:00 pm

Teri Klein
Teri Klein
Member of Academic Council
Professor (Research) of Biomedical Data Science and of Medicine (BMIR)
Stanford University

Abstract:

Pharmacogenomics (PGx) focuses on the use of genomic information to guide drug therapy and is a central component of precision medicine. Despite substantial progress in understanding how genetic variations impact drug efficacy and toxicity, the adoption of pharmacogenomics in clinical practice has been relatively slow. Major challenges in the implementation of pharmacogenomics knowledge include lack of awareness of the available evidence, unsure of how to interpret and use the genetic information, and lack of clear guidance on how to deliver information to the practitioners and patients. A central repository of pharmacogneomic knowledge is critical in addressing all of these challenges. The Pharmacogenomics Knowledgebase (PharmGKB) is a publically available premiere repository that collects, curates, and disseminates information about the impact of human genetic variation on drug responses. Through our research efforts and collaborations with pharmacogenomics research and clinical communities, we provide a comprehensive catalogue of genes and genetic variations that are most important for drug response phenotypes.  I will describe the core content of our knowledgebase and discuss how we use the knowledge to support clinical implementation of PGx.  In addition, I will highlight our collaboration with the Clinical Pharmacogenetics Implementation Consortium (CPIC) to develop freely available, peer-reviewed gene/drug practice guidelines for physicians that aids implementation of pharmacogenetic testing and improves the precision of drug selection and dosing. Lastly, I will present the development of The Pharmacogenomics Clinical Annotation Tool (PharmCAT), a software tool that extract all CPIC level-A variants from a genetic dataset (represented as a vcf), interpret the variant alleles, and generate a report that can then be used to inform prescribing decisions

Klein

References

  • Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein. “Pharmacogenomics Knowledge for Personalized Medicine”. Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417.
  • V. Relling, T.E. Klein. “CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network.” Clin Pharmacol Ther. 2011 Mar;89(3):464-7