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- Kalman, L. V., et al.
(author)
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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
- 2016
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In: Clinical Pharmacology and Therapeutics. - : WILEY-BLACKWELL. - 0009-9236 .- 1532-6535. ; 99:2, s. 172-185
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Journal article (peer-reviewed)abstract
- This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
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- Siest, G, et al.
(author)
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Systems medicine, personalized health and therapy
- 2015
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In: Pharmacogenomics. - : Future Medicine Ltd. - 1744-8042 .- 1462-2416. ; 16:14, s. 1527-39
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Journal article (other academic/artistic)abstract
- The 7th Santorini Conference was held in Santorini, Greece, and brought together 200 participants from 40 countries in several continents, including Europe, USA but also Japan, Korea, Brazil and South Africa. The attendees had the opportunity to: listen to 60 oral presentations; participate in two lunch symposia; look at 103 posters, which were divided in two groups (‘systems medicine and environment’ and ‘pharmacogenomics and cancer’) and attend a dedicated exhibition with six companies. The meeting was organized by the Institut National de la Santé et de la Recherche Médicale (INSERM) U1122; IGE-PCV and by ‘Biologie Prospective’ with the collaboration of the European Society of Pharmacogenomics and Theranostics (ESPT), under the auspices of international organizations (e.g., International Federation of Clinical Chemistry and Laboratory medicine [IFCC], European Federation of Clinical Chemistry and Laboratory Medicine [EFLM], European Diagnostic Manufacturers Association [EDMA], Federation of European Pharmacological Societies [EPHAR], European Science Foundation [ESF]). The 3 days of the conference stimulated intensive discussions on systems biology and the influence of omics technologies on personalized health. Sixty speakers were invited or selected from early abstracts and gave presentations on the following topics: From systems biology to systems medicine/pharmacology; Omics/translating pharmacogenomics/proteomic biomarkers/metabolomics; Human nutrition and health/personalized medicine. We are summarizing here the main topics and presentations, according to the successive sessions.
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| 4. |
- van der Wouden, C. H., et al.
(author)
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Implementing Pharmacogenomics in Europe : Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium
- 2017
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In: Clinical Pharmacology and Therapeutics. - : WILEY. - 0009-9236 .- 1532-6535. ; 101:3, s. 341-358
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Journal article (peer-reviewed)abstract
- Despite scientific and clinical advances in the field of pharmacogenomics (PGx), application into routine care remains limited. Opportunely, several implementation studies and programs have been initiated over recent years. This article presents an overview of these studies and identifies current research gaps. Importantly, one such gap is the undetermined collective clinical utility of implementing a panel of PGx-markers into routine care, because the evidence base is currently limited to specific, individual drug-gene pairs. The Ubiquitous Pharmacogenomics (U-PGx) Consortium, which has been funded by the European Commission's Horizon-2020 program, aims to address this unmet need. In a prospective, block-randomized, controlled clinical study (PREemptive Pharmacogenomic testing for prevention of Adverse drug REactions [PREPARE]), pre-emptive genotyping of a panel of clinically relevant PGx-markers, for which guidelines are available, will be implemented across healthcare institutions in seven European countries. The impact on patient outcomes and cost-effectiveness will be investigated. The program is unique in its multicenter, multigene, multidrug, multi-ethnic, and multi-healthcare system approach.
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| 6. |
- Cerutti, P. O., et al.
(author)
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The socioeconomic and environmental impacts of wood energy value chains in Sub-Saharan Africa : A systematic map protocol
- 2015
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In: Environmental Evidence. - : Springer Science and Business Media LLC. - 2047-2382. ; 4:1
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Journal article (peer-reviewed)abstract
- Background: The vast majority of households in Sub-Saharan Africa (SSA) depend on wood energy - comprising firewood and charcoal - for their daily energetic needs. Such consumption trends are expected to remain a common feature of SSA's wood energy production and supply chains, at least in the short- to medium-terms. Notwithstanding its importance, wood energy generally has low priority in SSA national policies. However, the use of wood energy is often considered a key driver of unsustainable management and negative environmental consequences in the humid and dry forests. To date, unsystematic assessments of the socio-economic and environmental consequences of wood energy use have underplayed its significance, thus further hampering policy debates. Therefore, a more balanced approach which considers both demand and supply dynamics is needed. This systematic map aims at providing a comprehensive approach to understanding the role and impacts of wood energy across all regions and aspects in SSA. Methods: The objective of this systematic map is to collate evidence from studies of environmental and socio-economic impacts of wood energy value chains, by considering both demand and supply within SSA. The map questions are framed using a Populations, Exposure, Comparators and Outcomes (PECO) approach. We name the supply and demand of wood energy as the "exposure," composed of wood energy production, harvesting, processing, and consumption. The populations of interest include both the actors involved in these activities and the forest sites where these activities occur. The comparator is defined as those cases where the same wood energy activities occur with i) available/accessible alternative energy sources, ii) regulatory frameworks that govern the sector and iii) alternative technologies for efficient use. The outcomes of interest encompass both socioeconomic and environmental impacts that can affect more than the populations named above. For instance, in addition to the direct socioeconomic impacts felt by participants in the wood energy value chain, forest dwellers may experience livelihood changes due to forest degradation caused by external harvesters. Moreover, intensified deforestation in one area may concurrently lead to forest regeneration in another.
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| 10. |
- Alfaya, J. E. F., et al.
(author)
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DNA barcoding supports identification of Malacobdella species (Nemertea: Hoplonemertea)
- 2015
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In: Zoological Studies. - : Springer Science and Business Media LLC. - 1021-5506 .- 1810-522X. ; 54
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Journal article (peer-reviewed)abstract
- Background: Nemerteans of the genus Malacobdella live inside of the mantle cavity of marine bivalves. The genus currently contains only six species, five of which are host-specific and usually found in a single host species, while the sixth species, M. grossa, has a wide host range and has been found in 27 different bivalve species to date. The main challenge of Malacobdella species identification resides in the similarity of the external morphology between species (terminal sucker, gut undulations number, anus position and gonad colouration), and thus, the illustrations provided in the original descriptions do not allow reliable identification. In this article, we analyse the relationships among three species of Malacobdella: M. arrokeana, M. japonica and M. grossa, adding new data for the M. grossa and reporting the first for M. japonica, analysing 658 base pairs of the mitochondrial cytochrome c oxidase subunit I gene (COI). Based on these analyses, we present and discuss the potential of DNA barcoding for Malacobdella species identification. Results: Sixty-four DNA barcoding fragments of the mitochondrial COI gene from three different Malacobdella species (M. arrokeana, M. japonica and M. grossa) are analysed (24 of them newly sequenced for this study, along with four outgroup specimens) and used to delineate species. Divergences, measured as uncorrected differences, between the three species were M. arrokeana-M. grossa 11.73%, M. arrokeana-M. japonica 10.62% and M. grossa-M. japonica 10.97%. The mean intraspecific divergence within the ingroup species showed a patent gap with respect to the interspecific ones: 0.18% for M. arrokeana, 0.13% for M. grossa and 0.02% for M. japonica (ranges from 0 to 0.91%). Conclusions: We conclude that there is a clear correspondence between the molecular data and distinguishing morphological characters. Our results thus indicate that some morphological characters are useful for species identification and support the potential of DNA barcoding for species identification in a taxonomic group with subtle morphological external differences.
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