Translational Bioinformatics
After reading this chapter, you should know the answers to these questions:
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Jessica D. Tenenbaum, Nigam H. Shah, and Russ B. Altman
After reading this chapter, you should know the answers to these questions: • How does translational bioinformatics differ from the more general field of bioinformatics? • What do T1 and T2 refer to in the context of translational research? • What is a biomarker, and why is it important in medicine? • What is personalized medicine, and how does it differ from traditional medical practice? • What is the difference between pharmacokinetics and pharmacodynamics? • What changes are needed from a clinical IT perspective to support personalized medicine? • What is the difference between statistical significance and clinical significance? • How are genomic data being used today in research, clinical care, and consumer health? J.D. Tenenbaum, PhD (*) Duke Translational Medicine Institute, Duke University, 2424 Erwin Rd, Durham 27705, NC, USA e-mail: [email protected] N.H. Shah, MBBS, PhD Department of Medicine, Stanford University, 1265 Welch Road, X-229, Stanford 94305, CA, USA e-mail: [email protected] R.B. Altman, MD, PhD Departments of Bioengineering, Genetics and Medicine, Stanford University, Clark Center, 318 Campus Drive, S242, Stanford 94305, CA, USA e-mail: [email protected]
• What are some legal and ethical issues surrounding direct-to-consumer genetic testing? • How are ontologies useful in translational bioinformatics?
25.1
What Is Translational Bioinformatics?
The preceding chapter described the field of bioinformatics, or the study of how information from biological systems is represented and analyzed. Translational Bioinformatics (TBI) is bioinformatics applied to human health and disease. It uses and extends the concepts and methods from bioinformatics to facilitate the practice of translational medicine, i.e. the translation of biological (“bench”) discoveries into actual impact on clinical care (“bedside”) and ultimately on population health (Fig. 25.1). The American Medical Informatics Association (AMIA) defines Translational Bioinformatics as “the development of storage, analytic, and interpretive methods to optimize the transformation of increasingly voluminous biomedical data, and genomic data, into proactive, predictive, preventive, and participatory health.”1 Those latter terms are often grouped together along with the more common descriptive of personalized medicine. The realization of personalized medicine will require methods for standards-based data 1
http://www.amia.org/applications-informatics/ translational-bioinformatics (Accessed 30/11/2012).
E.H. Shortliffe, J.J. Cimino (eds.), Biomedical Informatics, DOI 10.1007/978-1-4471-4474-8_25, © Springer-Verlag London 2014
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25.1.1
Differences from “Traditional” Bioinformatics
TBI differs from the larger field of bioinformatics in a number of key ways. As described above, the focus of TBI is human health. As such, the discipline centers primarily, though not exclusively, around human data. This fact has a number of implications fro
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