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| 2. |
- Thompson, Rachel, et al.
(författare)
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RD-Connect : An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
- 2014
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Ingår i: Journal of general internal medicine. - : Springer Science and Business Media LLC. - 0884-8734 .- 1525-1497. ; 29:S3, s. S780-S787
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Forskningsöversikt (refereegranskat)abstract
- Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype, genomic data, biomaterial availability, and research/trial data sets. Such data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest. Data access and authorization procedures are required to allow researchers in multiple institutions to securely compare results and gain new insights. Funded by the European Union's Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
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| 3. |
- Laurie, Steven, et al.
(författare)
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The RD-Connect Genome-Phenome Analysis Platform : Accelerating diagnosis, research, and gene discovery for rare diseases
- 2022
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:6, s. 717-733
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Tidskriftsartikel (refereegranskat)abstract
- Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes.
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| 4. |
- Engström, Gunnar, et al.
(författare)
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The Swedish CArdioPulmonary BioImage Study : objectives and design
- 2015
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 278:6, s. 645-659
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Tidskriftsartikel (refereegranskat)abstract
- Cardiopulmonary diseases are major causes of death worldwide, but currently recommended strategies for diagnosis and prevention may be outdated because of recent changes in risk factor patterns. The Swedish CArdioPulmonarybioImage Study (SCAPIS) combines the use of new imaging technologies, advances in large-scale 'omics' and epidemiological analyses to extensively characterize a Swedish cohort of 30 000 men and women aged between 50 and 64 years. The information obtained will be used to improve risk prediction of cardiopulmonary diseases and optimize the ability to study disease mechanisms. A comprehensive pilot study in 1111 individuals, which was completed in 2012, demonstrated the feasibility and financial and ethical consequences of SCAPIS. Recruitment to the national, multicentre study has recently started.
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| 5. |
- Swartling, Ulrica, et al.
(författare)
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Children's Views on Long-Term Screening for Type 1 Diabetes.
- 2014
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Ingår i: Journal of Empirical Research on Human Research Ethics. - : SAGE Publications. - 1556-2654 .- 1556-2646. ; 9:4, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- There are an increasing number of medical research studies involving children, including many long-term birth cohort studies. Involving children raises many issues, and little is known about children's own views. This study explored children's views (N = 5,851) on participation in a long-term screening study for type 1 diabetes. The results show that children 10 to 13 years of age have in general a positive attitude to pediatric research and emphasized trust in researchers. The children stressed the importance to receive information and to be involved in decisions. The children also reported feeling concerned about blood sampling and disease risk. Researchers involved in long-term pediatric research need to address these issues to promote involvement and decrease worry.
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| 8. |
- Matar, Amal, et al.
(författare)
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"A perfect society" : Swedish policymakers' ethical and social views on preconception expanded carrier screening
- 2019
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Ingår i: Journal of Community Genetics. - : Springer Science and Business Media LLC. - 1868-310X .- 1868-6001. ; 10:2, s. 267-280
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Tidskriftsartikel (refereegranskat)abstract
- To improve healthcare policymaking, commentators have recommended the use of evidence, health technology assessment, priority setting, and public engagement in the process of policymaking. Preconception expanded carrier screening, according to the World Health Organization’s definition, is a novel health technology and therefore warrants assessment, part of which involves evaluating ethical and social implications. We examined ten Swedish policymakers’ perspectives on ethical and social aspects of preconception expanded screening through in-depth expert interviewing, using a semi-structured questionnaire. Respondents were affiliated to governmental and non-governmental institutions that directly influence healthcare policymaking in Sweden. The interviews were recorded, transcribed verbatim, and analyzed via inductive thematic analysis method, which generated seven themes and several subthemes. Policymakers harbored concerns regarding the economics, Swedish and international political respects, implementation procedures, and societal effects, which included long-term ones. Moreover, participants detailed the role of public engagement, research, and responsibility in regard to preconception expanded carrier screening implementation. Since this is a qualitative study, with a small non-random sample, the results may not be generalizable to all policymakers in Sweden. However, the results give a profound insight into the process and interpretative knowledge of experts, in the Swedish milieu and the extent of readiness of Sweden to implement a preconception expanded carrier screening program.
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| 9. |
- Godskesen, Tove, et al.
(författare)
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Hope for a cure and altruism are the main motives behind participation in phase 3 clinical cancer trials
- 2015
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Ingår i: European Journal of Cancer Care. - : Wiley-Blackwell. - 0961-5423 .- 1365-2354. ; 24:1, s. 133-41
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Tidskriftsartikel (refereegranskat)abstract
- It is necessary to carry out randomised clinical cancer trials (RCTs) in order to evaluate new, potentially useful treatments for future cancer patients. Participation in clinical trials plays an important role in determining whether a new treatment is the best therapy or not. Therefore, it is important to understand on what basis patients decide to participate in clinical trials and to investigate the implications of this understanding for optimising the information process related to study participation. The aims of this study were to (1) describe motives associated with participation in RCTs, (2) assess if patients comprehend the information related to trial enrolment, and (3) describe patient experiences of trial participation. Questionnaires were sent to 96 cancer patients participating in one of nine ongoing clinical phase 3 trials at the Department of Oncology, Uppsala University Hospital in Sweden. Eighty-eight patients completed the questionnaire (response rate 92%); 95% of these were patients in adjuvant therapy and 5% participated in clinical trials on palliative care. Two main reasons for participation were identified: personal hope for a cure and altruism. Patients show adequate understanding of the information provided to them in the consent process and participation entails high patient satisfaction.
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| 10. |
- Johnsson, Åse (Allansdotter), 1966, et al.
(författare)
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Incidental findings and their handling in the Swedish CArdioPulmonary bioimage study (SCAPIS)
- 2017
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Ingår i: Incidental Radiological Findings. - Cham : Springer International Publishing. - 0942-5373 .- 2197-4187. - 9783319425818 - 9783319425795 - 9783319826127 ; , s. 91-101
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Bokkapitel (refereegranskat)abstract
- The Swedish CArdioPulmonary bioImage Study (SCAPIS) combines the use of new imaging technologies, large-scale proteomics/metabolomics/genomics, and epidemiological analyses to extensively characterize a Swedish cohort of 30,000 men and women aged between 50 and 64 years. Its main aims are to improve risk prediction and to optimize our ability to study mechanisms of cardiopulmonary diseases. SCAPIS is currently recruiting at six sites in Sweden, and a pilot study was conducted in 2012 to test the feasibility of the comprehensive study protocol. In the planning phase, it was recognized that the detailed phenotyping used in SCAPIS would identify a large number of clinical findings in need of medical attention. This was confirmed by evaluation of results from the pilot study. Here we focus on pulmonary nodules and asymptomatic coronary artery stenosis. These clinical features were observed in a large number of participants, and the clinical handing and prognosis related to these observations are unclear. They thus posed great challenges for the study in their practical and ethical handling. This chapter describes how we developed procedures to handle these findings based on existing evidence and expert consensus as well as deliberations on ethical issues.
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