Current Pharmacogenomics and Personalized Medicine (Formerly Current Pharmacogenomics) - Volume 9, Issue 1, 2011

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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.

To date, neither dermatology nor global health has received adequate attention in the pharmacogenomics literature. Yet, the skin diseases are very common worldwide and in addition, the skin is frequently afflicted by many infectious diseases that constitute a public health problem. Cutaneous leishmaniasis is a complex vector-borne protozoan infection endemic worldwide in the tropics and the subtropics. It afflicts predominantly low socioeconomic groups who are least able to afford effective drug therapies. It has a diverse clinical spectrum and disease expression that depends on Leishmania protozoan species, vector virulence factors and host immune responses. Despite a myriad of therapeutic options, treatment outcomes are vastly variable and characterized by poor drug efficacy and toxicity. Epidemiological studies and inter-ethnic differences in disease presentation suggest genetic susceptibility. Indeed, the family and association studies have identified HLA- and non-HLA gene associations. Progress in leishmaniasis susceptibility gene identification has important implications for defining prognostic markers, identifying novel molecular targets for drug development, and pharmacogenetics-guided stratified therapy. Importantly, the genetic markers that determine those at risk of progressing to the destructive mucocutaneous variant have significant implications for drug selection and allocation. Pharmacogenetic profiling will also impact drug trials of cutaneous leishmaniasis which hitherto have been characterized by poor study design. This paper details the progress and recent developments in host genetics in both the mouse model and human studies of cutaneous leishmaniasis, and discusses the difficulties of extrapolating findings to other clinical phenotypes and endemic regions because of disease complexity and heterogeneity.

Pharmacogenetics (PGx) is a growing field of research and scholarship that promises to have important applications in the clinic, particularly in relation to individualization of drug therapy. Education in PGx in health professional schools, however, appears to be lagging behind the rapid advances in research. In this paper, we aim at assessing the current PGx teaching provided and recommend a cost effective way of improving it. We first review the current status of PGx teaching around the world as reported in the literature. We note the paucity of such reports in general, and their near total absence from institutions in low and middle-income countries (LMICs). We then elaborate on our experience at the American University of Beirut's Faculty of Medicine (AUBFM), where a longitudinal approach was taken to introduce the concepts and develop the skills related to PGx. In addition, we report on our use of the innovative, cost effective and highly interactive Team Based Learning (TBL) method of teaching PGx, which emphasizes individual accountability, team work, active learning and problem solving. We conclude by proposing approaches, resources and general recommendations for implementing educational activities in PGx that are particularly, but not exclusively, relevant for institutions in the LMICs. Lastly, we suggest that as with health, education needs are global but implementation is always local. This means the future education efforts in pharmacogenomics and personalized medicine need to adopt a sociological approach whereby local and regional nuances that facilitate or hinder learning and knowledge uptake are also taken into account.

Research in human genetics and genetic epidemiology has grown significantly over the previous decade, particularly in the field of pharmacogenomics. Pharmacogenomics presents an opportunity for rapid translation of associated genetic polymorphisms into diagnostic measures or tests to guide therapy as part of a move towards personalized medicine. Expansion in throughput of genotyping technology and reduction of its cost have cleared the way for widespread use of whole-genome genotyping in the effort to identify novel biology and new genetic markers associated with pharmacokinetic and pharmacodynamic endpoints. With new technology and methodology regularly becoming available for use in genetic studies, a discussion on the application of such tools becomes necessary. In particular, quality control criteria have evolved with the use of genome wide association studies (GWAS) as we have come to understand potential systematic errors which can be introduced into the data during high-throughput genotyping. There have been several replicated pharmacogenomic associations, some of which have moved to the clinic to enact change in treatment decisions. These examples of translation illustrate the pertinence of systematic evidence from welldesigned studies to successfully and effectively translate a genetic discovery. In this paper, the design of pharmacogenomic association studies is examined with the goal of optimizing the downstream impact and utility of this research in clinical and public health practice. Issues of ascertainment, genotyping, quality control, analysis and interpretation are also considered.

Obesity and associated diseases such as diabetes have become an epidemic that represents a major threat to global public health. In the last two decades, an explosive increase in the number of persons diagnosed with diabetes has been observed worldwide. The global figure of affected individuals is expected to increase from currently 150 million to 300 million in 2025. The obesity spectrum diseases also impact individuals at a young age, posing a tremendous burden on the global public health system. Dietary interventions and pharmacological strategies have so far failed to deliver appreciable success in the fight against obesity. This paper examines the emerging role of metabonomic-based gut microbiome biomarkers for personalized interventions against obesity. We also highlight that chronobiology is a potentially relevant consideration for systems biology research in obesity. Mechanism-oriented molecular diagnostics for obesity offer the promise to substantively influence the long term trajectory of obesity related diseases and create a space whereby preventive public health interventions can be designed effectively. Human gut and microbiome warrant attention in future research efforts for personalized medicine, and rational therapeutics for obesity and the associated continuum of diseases.