Telemedicine, Genomics and Personalized Medicine: Synergies and Challenges

Grace      M. Kuo; Joseph      D. Ma; Kelly      C. Lee; Philip      E. Bourne

Abstract

Telemedicine and genomic medicine are two rapidly developing areas driven in part by new technologies. Together they offer the promise of new configurations of health care without time or distance boundaries. Telemedicine literally means “distance” (Greek word “Tele”) and “to heal” (Latin word “Mederi”). It is broadly defined to include applications relevant to patient care, professional and patient education, research, and public health. Telemedicine has the potential to extend personalized medicine and clinical services beyond national boundaries to enhance global health collaborations. Conceivably, the diffusion of genomic information can be accelerated to reach beyond printed textbooks by utilizing multimedia and interactive features of telemedicine. To this end, delivery methods and in particular, technologies of telemedicine affect several areas of genomic practice. Telemedicine has been used to facilitate communication, medical care, and the dissemination of genomic information relevant to both researchers and clinicians so that new information can quickly become available. In this paper, the definition of telemedicine is provided, followed by the historical development of its technologies and a summary of where telemedicine has been applied in the general medical practice as well as the areas related to genomic practice. Examples of where telemedicine has been used as a tool to disseminate genomic information, including dbSNP and dbGaP, PharmGKB, Direct-to-consumer genetic testing, PLoS, SciVee, and PharmGenEd ™ , are described in this paper. In addition, we discuss the synergies and challenges that continue to impact the implementation of telemedicine tools for genomic applications.

Keywords: Genomics, medical informatics, pharmacogenomics, public health genomics, telemedicine, telegenetics, telegenomics, Direct-to-Consumer Genetic Testing, The Pharmacogenomics Knowledge Base, Public Library of Science (PLoS), SciVee, The database of Single Nucleotide Polymorphism (dbSNP)