Suchergebnisse

In the post-genomic era, there is an increasing and urgent need for managing and visualizing big data. Data complexity and size will turn information growth into knowledge growth only if presented in a comprehensive and user-friendly way. In such a context, the information technology community collaborates in a multidisciplinary manner with other scientific fields searching for and/or developing tools and services for data management and visualization. We have previously developed DruGeVar, a comprehensive database that triangulates drugs with genes and pharmacogenomic biomarkers to serve clinical pharmacogenomics. To empower its functionality, we explored and implemented new visualization tools, such as POWER-BI (Microsoft), which allows for interactive visualization. Herein, we describe the synergy of POWER-BI and DruGeVar, focusing on cancer genomics data in light of translational pharmacogenomics.

Nutrigenomics is an important strand of precision medicine that examines the bidirectional interactions of the genome and nutritional exposures, and attendant health and disease outcomes. This perspectives article presents the new concept of "Nutrigenomics 2.0," so as to cultivate and catalyze the next generation research and funding priorities for responsible and sustainable knowledge-based innovations. We further contextualize our recent study of the 38 genes included in commercially available nutrigenomics tests, and offer additional context in relation to the 2014 American Academy of Nutrition and Dietetics position. Finally, we make a call in the best interest of the nutrigenomics science community, governments, global society, and commercial nutrigenomics test providers that new evidence evaluation and synthesis platforms are created concerning nutrigenomics tests before they become commercially available. The proposed assessment and synthesis of nutrigenomics data should be carried out on an ongoing dynamic basis with periodic intervals and/or when there is a specific demand for evidence synthesis, and importantly, in ways that are transparent where conflict of interests are disclosed fully by the involved parties, be they scientists, industry, governments, citizens, social scientists, or ethicists. We submit that this will cultivate responsible innovation, and business models that are sustainable, robust, and stand the test of time and context.

Interindividual variability is yet to be fully characterized, and for this, optimum patient stratification and companion diagnostics are still lacking. Especially when complex disease phenotypes and/or polygenic diseases are considered, patient monitoring and disease management become rather challenging, while acquired resistance to therapy and/or toxicity events are among the unmet needs in the clinic. No doubt, biomarkers are of great importance to disease management and tailor-made theranostics. Microfluidics has gathered great attention lately, mostly due to its low-invasive nature compared to tissue biopsies. Low invasiveness becomes greatly advantageous for microfluidics practices as the latter mirror cell biology revolutionizing cancer diagnostics and management. Recent advances in microfluidics hold the promise of robust clinical diagnostics after they have demonstrated effective exosome separation. We feel that microfluidics-based exosome isolation techniques, if cost-effective, could be implemented in the clinic and/or resource-scarce settings. This article (a) discusses exosomes, (b) comments on the first microfluidic advances in the field of cancer theranostics, (c) presents such advances in exosomes as complementary to liquid biopsies with an emphasis on circulating tumor cells, and (d) proposes a road map for future developments.

<b><i>Background/Aims:</i></b> Pharmacogenomics aims to use the information derived from an individual's genomic profile in the context of individualizing medical treatment modalities. However, currently, pharmacogenomics education is not uniformly provided to health care professionals. This study investigates the status of pharmacogenomics education in Southeast Europe. <b><i>Methods:</i></b> University websites served as information sources in order to investigate the discrepancies in pharmacogenomics education in Southeast Europe. In parallel, a survey was conducted at the University of Cagliari (Italy) to test pharmacogenomics knowledge and understanding among specialists, residents and undergraduate students. <b><i>Results:</i></b> Our study shows that pharmacogenomics knowledge is not uniformly spread in universities in Southeast Europe and provides the basis for the harmonization of pharmacogenomics education that would directly impact on a smoother integration of pharmacogenomics into mainstream medical practice. Also, a considerable gap in pharmacogenomics education was obvious between the group of specialists and the groups of residents and undergraduate students. <b><i>Conclusions:</i></b> Pharmacogenomics education as well as the continuous enrichment of pharmacogenomics knowledge for health care professionals are fundamental approaches toward personalized medicine. Ideally, pharmacogenomics should be taught as a stand-alone course or at least in the context of genetics courses that already exist in universities in Southeast Europe.

<b><i>Background/Aims:</i></b> Pharmacogenomics aims to rationalize drug use by minimizing drug toxicity and/or by increasing drug efficacy. A large number of genomic markers have been correlated with variable drug responses and severity of adverse drug reactions. Although a number of these drugs bear pharmacogenomic information in their labels - approved by regulatory agencies - and comprehensive drug/gene lists exist online, information related to the respective pharmacogenomic biomarkers is currently missing from such lists. <b><i>Methods:</i></b> We extracted information from the published literature and online resources and developed DruGeVar (http://drugevar.genomicmedicinealliance.org), an online resource triangulating drugs with genes and pharmacogenomic biomarkers in an effort to build a comprehensive database that could serve clinical pharmacogenomics. <b><i>Results and Conclusions:</i></b> A user-friendly data querying and visualization interface allows users to formulate simple and complex queries. Such a database would be readily applicable as a stand-alone resource or a plug-in module for other databases.