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Translational Genomics-Chapter 14:From Discovery to Clinical Practice

Elsevier Inc.
DOI: 10.1016/b978-0-12-374934-5.00014-3
  • Biology
  • Medicine


Publisher Summary This chapter focuses on paradigms for translational genomics that enables effective translation of human genome information to clinically relevant actions and outcomes. New knowledge from the study of genomes and their by-products permits the development of predictors of disease predisposition, prognosis, and therapeutic response in individual patients, providing an opportunity to employ these predictors in present day practice. An astounding number of genome-based discoveries are defined with the potential to fundamentally alter how medicine is practiced in cardiovascular disease, oncology, metabolic disease, neuropsychiatric disorders, infectious disease, and diseases with a basic inflammatory component. Despite the vast amount of genomic information available, the translation of basic scientific findings from the genome and its derivative products, RNA, and protein, to daily use in medical practice is slow. Personal genomics and direct-to-consumer avenues are bringing genomics directly to the public, thus circumventing the traditional health care delivery and regulatory channels.

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