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- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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- Birney, Ewan, et al.
(författare)
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Prepublication data sharing
- 2009
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 461:7261, s. 168-170
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Tidskriftsartikel (refereegranskat)abstract
- Rapid release of prepublication data has served the field of genomics well. Attendees at a workshop in Toronto recommend extending the practice to other biological data sets.
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- Dykstra, Pearl, et al.
(författare)
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Improving pandemic preparedness and management : Lessons learned and ways forward : independent expert report
- 2020
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Epidemics and pandemics have shaped human history and will continue to do so. The COVID-19 crisis has shown that there is need to understand how Europe can ensure better management of and preparedness for them. This joint advice builds on lessons learned from the current and from previous pandemics. It analyses their complexity, drawing on insights from research and scholarship and taking Europeanvalues and respect for fundamental rights as critical orientation. It is developed jointly by the European Commission’s independent Group of Chief Scientific Advisors, the European Group on Ethics in Science and New Technologies (EGE) and Peter Piot, Special Advisor to the President of the European Commission on the response to COVID-19. Their recommendations include strengthened European and global solidarity and coordination in governance, research and community efforts to improve pandemic preparedness and management. This should address all aspects and causes of pandemics in their complex interplay, from biomedical and health to social and environmental ones. The advice covers efforts to prevent and pre-empt future pandemics; more coordinated response structures and mechanisms; the strengthening of essential systems, including healthcare, supply chains, public health, information and education; and protecting fundamental rights and social justice.
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- Heuer, Rolf-Dieter, et al.
(författare)
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Ex post evaluation of the activities of the joint research centre under Horizon 2020 and Euratom 2014-2020
- 2022
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The report is the result of the external Panel ex post evaluation of the JRC activities under H2020 and Euratom 2014-2020. It provides the independent assessment requested in the Council Decisions concerning the specific programmes to be carried out by means of direct actions by the Joint Research Centre implementing the Horizon 2020 Framework Programme (2014-2020) of the European Commission and of the European Atomic Energy Community (Euratom). The evaluation has been conducted by a panel of independent external experts under the chairmanship of Dr Rolf-Dieter Heuer. In this report the Panel concludes positively on the effectiveness of the JRC as the Commission’s science service in support of Euratom and EU policies. Besides a number of recommendations for incremental improvement of the JRC, the Panel has flagged that the JRC is in a unique position as a provider of independent scientific evidence inside the European Commission, but, because of this, the JRC and its research work are less visible to the outside world than they merit. The Panel also flags that the JRC and its stakeholders, internal and external to the Commission, would also benefit from more communication and interactions. The Panel has particularly appreciated the meetings with the stakeholders that gave much insight into the cooperation between the JRC and the other parts of the Commission, supporting our positive assessment and our suggestions for improvement.
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7. |
- Howard, Heidi Carmen, et al.
(författare)
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How to responsibly acknowledge research work in the era of big data and biobanks : ethical aspects of the Bioresource Research Impact Factor (BRIF).
- 2018
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Ingår i: Journal of Community Genetics. - : Springer Science and Business Media LLC. - 1868-310X .- 1868-6001. ; 9:2, s. 169-176
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Tidskriftsartikel (refereegranskat)abstract
- Currently, a great deal of biomedical research in fields such as epidemiology, clinical trials and genetics is reliant on vast amounts of biological and phenotypic information collected and assembled in biobanks. While many resources are being invested to ensure that comprehensive and well-organised biobanks are able to provide increased access to, and sharing of biomedical samples and information, many barriers and challenges remain to such responsible and extensive sharing. Germane to the discussion herein is the barrier to collecting and sharing bioresources related to the lack of proper recognition of researchers and clinicians who developed the bioresource. Indeed, the efforts and resources invested to set up and sustain a bioresource can be enormous and such work should be easily traced and properly recognised. However, there is currently no such system that systematically and accurately traces and attributes recognition to those doing this work or the bioresource institution itself. As a beginning of a solution to the "recognition problem", the Bioresource Research Impact Factor/Framework (BRIF) initiative was proposed almost a decade and a half ago and is currently under further development. With the ultimate aim of increasing awareness and understanding of the BRIF, in this article, we contribute the following: (1) a review of the objectives and functions of the BRIF including the description of two tools that will help in the deployment of the BRIF, the CoBRA (Citation of BioResources in journal Articles) guideline, and the Open Journal of Bioresources (OJB); (2) the results of a small empirical study on stakeholder awareness of the BRIF and (3) a brief analysis of the ethical dimensions of the BRIF which allow it to be a positive contribution to responsible biobanking.
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- Swen, JesseJ, et al.
(författare)
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A 12-gene pharmacogenetic panel to prevent adverse drug reactions : an open-label, multicentre, controlled, cluster-randomised crossover implementation study
- 2023
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Ingår i: The Lancet. - : Elsevier. - 0140-6736 .- 1474-547X. ; 401:10374, s. 347-356
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Tidskriftsartikel (refereegranskat)abstract
- Background: The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene-drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed.Methods: We conducted an open-label, multicentre, controlled, cluster-randomised, crossover implementation study of a 12-gene pharmacogenetic panel in 18 hospitals, nine community health centres, and 28 community pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK). Patients aged 18 years or older receiving a first prescription for a drug clinically recommended in the guidelines of the Dutch Pharmacogenetics Working Group (ie, the index drug) as part of routine care were eligible for inclusion. Exclusion criteria included previous genetic testing for a gene relevant to the index drug, a planned duration of treatment of less than 7 consecutive days, and severe renal or liver insufficiency. All patients gave written informed consent before taking part in the study. Participants were genotyped for 50 germline variants in 12 genes, and those with an actionable variant (ie, a drug-gene interaction test result for which the Dutch Pharmacogenetics Working Group [DPWG] recommended a change to standard-of-care drug treatment) were treated according to DPWG recommendations. Patients in the control group received standard treatment. To prepare clinicians for pre-emptive pharmacogenetic testing, local teams were educated during a site-initiation visit and online educational material was made available. The primary outcome was the occurrence of clinically relevant adverse drug reactions within the 12-week follow-up period. Analyses were irrespective of patient adherence to the DPWG guidelines. The primary analysis was done using a gatekeeping analysis, in which outcomes in people with an actionable drug-gene interaction in the study group versus the control group were compared, and only if the difference was statistically significant was an analysis done that included all of the patients in the study. Outcomes were compared between the study and control groups, both for patients with an actionable drug-gene interaction test result (ie, a result for which the DPWG recommended a change to standard-of-care drug treatment) and for all patients who received at least one dose of index drug. The safety analysis included all participants who received at least one dose of a study drug. This study is registered with ClinicalTrials.gov, NCT03093818 and is closed to new participants.Findings: Between March 7, 2017, and June 30, 2020, 41 696 patients were assessed for eligibility and 6944 (51.4 % female, 48.6% male; 97.7% self-reported European, Mediterranean, or Middle Eastern ethnicity) were enrolled and assigned to receive genotype-guided drug treatment (n=3342) or standard care (n=3602). 99 patients (52 [1.6%] of the study group and 47 [1.3%] of the control group) withdrew consent after group assignment. 652 participants (367 [11.0%] in the study group and 285 [7.9%] in the control group) were lost to follow-up. In patients with an actionable test result for the index drug (n=1558), a clinically relevant adverse drug reaction occurred in 152 (21 center dot 0%) of 725 patients in the study group and 231 (27.7%) of 833 patients in the control group (odds ratio [OR] 0 center dot 70 [95% CI 0 center dot 54-0 center dot 91]; p=0.0075), whereas for all patients, the incidence was 628 (21.5%) of 2923 patients in the study group and 934 (28. 6%) of 3270 patients in the control group (OR 0.70 [95% CI 0.61-0.79]; p <0.0001).Interpretation: Genotype-guided treatment using a 12-gene pharmacogenetic panel significantly reduced the incidence of clinically relevant adverse drug reactions and was feasible across diverse European health-care system organisations and settings. Large-scale implementation could help to make drug therapy increasingly safe.
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- Wichmann, H-Erich, et al.
(författare)
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Comprehensive catalog of European biobanks
- 2011
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Ingår i: Nature Biotechnology. - : Springer Science and Business Media LLC. - 1087-0156 .- 1546-1696. ; 29:9, s. 795-797
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Tidskriftsartikel (refereegranskat)
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11. |
- Yuille, Martin, et al.
(författare)
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Biobanking for Europe
- 2008
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Ingår i: Briefings in Bioinformatics. - : Oxford University Press (OUP). - 1467-5463 .- 1477-4054. ; 9:1, s. 14-24
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Biobanks are well-organized resources comprising biological samples and associated information that are accessible to scientific investigation. Across Europe, millions of samples with related data are held in different types of collections. While individual collections can be well organized and accessible, the resources are subject to fragmentation, insecurity of funding and incompleteness. To address these issues, a Biobanking and BioMolecular Resources Infrastructure (BBMRI) is to be developed across Europe, thereby implementing a European roadmap for research infrastructures that was developed by a forum of EU member states and that has been received by the European Commission. In this review, we describe the work involved in preparing for the construction of BBMRI in a European and global context.
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