| 1. |
- Laurie, Steven, et al.
(författare)
-
The RD-Connect Genome-Phenome Analysis Platform : Accelerating diagnosis, research, and gene discovery for rare diseases
- 2022
-
Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:6, s. 717-733
-
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.
|
|
| 2. |
- Bayliss, Kerin, et al.
(författare)
-
Perceptions of predictive testing for those at risk of developing a chronic inflammatory disease : a meta-synthesis of qualitative studies
- 2018
-
Ingår i: Journal of Risk Research. - : ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD. - 1366-9877 .- 1466-4461. ; 21:2, s. 167-189
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The availability of tests to predict the risk of developing chronic diseases is increasing. The identification of individuals at high risk of disease can trigger early intervention to reduce the risk of disease and its severity. In order for predictive tests to be accepted and used by those at risk, there is a need to understand people's perceptions of predictive testing.Method: A meta-synthesis of qualitative research that explored patient and public perceptions of predictive testing for chronic inflammatory diseases was conducted. Studies were coded by researchers and patient research partners, and then organised into common themes associated with the acceptability or use of predictive testing.Results: Perceived barriers to predictive testing were identified, including a concern about a lack of confidentiality around the use of risk information; a lack of motivation for change; poor communication of information; and a possible impact on emotional well-being. In order to reduce these barriers, the literature shows that a patient-centred approach is required at each stage of the testing process. This includes the consideration of individual needs, such as accessibility and building motivation for change; readily available and easy to understand pre and post-test information; support for patients on how to deal with the implications of their results; and the development of condition specific lifestyle intervention programmes to facilitate sustainable lifestyle changes.Conclusion: Patients and members of the public had some concerns about predictive testing; however, a number of strategies to reduce barriers and increase acceptability are available. Further research is required to inform the development of a resource that supports the individual to make an informed decision about whether to engage in a predictive test, what test results mean, and how to access post-test support.
|
|
| 3. |
- Drevin, Jennifer, et al.
(författare)
-
Patients' views on using human embryonic stem cells to treat Parkinson's disease : an interview study
- 2022
-
Ingår i: BMC Medical Ethics. - : Springer Nature. - 1472-6939. ; 23
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Human embryonic stem cells (hESC) as a source for the development of advanced therapy medicinal products are considered for treatment of Parkinson's disease (PD). Research has shown promising results and opened an avenue of great importance for patients who currently lack a disease modifying therapy. The use of hESC has given rise to moral concerns and been the focus of often heated debates on the moral status of human embryos. Approval for marketing is still pending.Objective: To Investigate the perspectives and concerns of patients with PD, patients being the directly concerned stakeholders in the ethical discussion.Methods: Qualitative semi-structured interviews related to this new therapy in seventeen patients from two Swedish cities.Results: The participants expressed various interests related to the use of human embryos for development of medicinal therapies; however, overall, they were positive towards the use of hESC for treatment of PD. It was deemed important that the donating woman or couple made the choice to donate embryos voluntarily. Furthermore, there were concerns that the industry does not always prioritise the patient over profit; thus, transparency was seen as important.
|
|
| 4. |
- Engström, Gunnar, et al.
(författare)
-
The Swedish CArdioPulmonary BioImage Study : objectives and design
- 2015
-
Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 278:6, s. 645-659
-
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.
|
|
| 5. |
- Frygner-Holm, Sara, et al.
(författare)
-
Pretend Play as an Intervention for Children With Cancer : A Feasibility Study
- 2020
-
Ingår i: Journal of Pediatric Oncology Nursing. - : Sage Publications. - 1043-4542 .- 1532-8457. ; 37:1, s. 65-75
-
Tidskriftsartikel (refereegranskat)abstract
- Children with cancer suffer from symptoms and burdensome treatments that often cause distress to children and their families. Mortality is one aspect of cancer diagnosis, while another is the quality of life and well-being during and after the treatment. By supporting children's communication, self-efficacy and coping ability in the care situation, children are given the possibilities for increased independence and participation and are allowed to develop an influence over their care. The aim of this study was to develop and evaluate the feasibility and acceptability of an adult-facilitated pretend play intervention for children with cancer. Five children with ongoing treatment for cancer were invited to a play intervention that consisted of six to eight sessions of structured pretend play aimed at increasing participation, independence, and well-being. A mixed method design was used to evaluate the feasibility and acceptability of the play intervention. Measures were collected before and after interventions, and in conjunction with every play session. Results suggest that the children enjoyed the play intervention. Findings indicate small improvements regarding self-efficacy in care situations and equal or increased quality of life for participants. A main finding was that no adverse events or increased worrying was reported in conjunction with play sessions. Therefore, the intervention is regarded as safe, feasible, and acceptable as reported by participants and their primary caregivers and a possible means of increasing participation and independence in children with a cancer diagnosis.
|
|
| 6. |
- Garnier, Nicolas, et al.
(författare)
-
Genetic newborn screening and digital technologies : A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
- 2023
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 18:11
-
Tidskriftsartikel (refereegranskat)abstract
- Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations. It focuses on genetic newborn screening and artificial intelligence-based tools which will be applied to a large European population of about 25.000 infants. The neonatal screening strategy will be based on targeted sequencing, while whole genome sequencing will be offered to all enrolled infants who may show early symptoms but have resulted negative at the targeted sequencing-based newborn screening. We will leverage artificial intelligence-based algorithms to identify patients using Electronic Health Records (EHR) and to build a repository "symptom checkers" for patients and healthcare providers. S4C will design an equitable, ethical, and sustainable framework for genetic newborn screening and new digital tools, corroborated by a large workout where legal, ethical, and social complexities will be addressed with the intent of making the framework highly and flexibly translatable into the diverse European health systems.
|
|
| 7. |
- Grauman, Åsa, 1982-, et al.
(författare)
-
Attitudes and values among the Swedish general public to using human embryonic stem cells for medical treatment
- 2022
-
Ingår i: BMC Medical Ethics. - : Springer Nature. - 1472-6939. ; 23:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The use of human embryonic stem cells (ES cells) for the development of medical therapies is surrounded with moral concerns. The aim of this study was to assess the public's attitudes toward the use of ES cells for treatment of Parkinson's disease (PD) and other diseases, what factors are most important to consider when using ES cells for drug development, and if there is an association between religious beliefs and attitudes toward using ES cells for medical treatment.Methods: A randomly selected sample of the Swedish public, aged 18-87-years-old, completed an online survey (n = 467). The survey assessed socio-demographics, religious views, perceived moral status of the embryo, and attitudes toward using ES cells for medical treatment of PD and other diseases. Adjusted odds ratios (ORs) and 95% confidence intervals (CI) for positive vs. negative attitude toward using ES cells for drug development were computed using logistic regression.Results: The respondents were positive about using ES for treatment; specifically, 70% totally agreed that it is acceptable to use ES cells for treatment of PD, while 40% totally agreed that it is acceptable to use ES cells for treatment but induced pluripotent cells is just as efficient. Religion being of little importance in one's life was associated with a positive attitude toward using ES cells for treatment of PD (adjusted OR 6.39, 95% CI 2.78-14.71). The importance of being able "to access new, effective treatments against diseases that do not have any treatment available " was ranked as the most important factor to consider when using ES cells for drug development.Conclusion: Most respondents are positive about using ES cells for drug development, and making effective treatments accessible to those who do not have any. However, these attitudes are influenced by the specific disorder that the drug development is intended for, as well as the religious views and perceived moral status of the early embryo.
|
|
| 8. |
- Grauman, Åsa, 1982-, et al.
(författare)
-
Communicating test results from a general health checkup: the public’s preferences from a discrete choice experiment survey
- 2021
-
Ingår i: Patient Related Outcome Measures. - : Springer Nature. - 1179-271X. ; 14:5, s. 649-660
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Health checks can detect risk factors and initiate prevention of cardiovascular diseases but there is no consensus on how to communicate the results. The aim of this study was to investigate the preferences of the general population for communicating health check results.Methods: A randomly selected sample of the Swedish population aged 40–70 years completed a discrete choice experiment survey that included questions on sociodemographics, lifestyle and health and 15 choice questions consisting of six attributes (written results, notification method, consultation time, waiting time, lifestyle recommendation and cost). Data were analyzed with a latent class analysis (LCA). Relative importance of the attributes and predicted uptake for several scenarios were estimated.Results: In the analysis, 432 individuals were included (response rate 29.6%). A three-class LCA model best fit the data. Cost was the most important attribute in all classes. Preferences heterogeneity was found for the other attributes; in Class 1, receiving consultation time and the written results were important, respondents in Class 2 dominated on costs and respondents in Class 3 found consultation time, waiting time and lifestyle recommendations to be important. Health literate respondents were more likely to belong to Class 3. The predicted uptake rates ranged from 7 to 88% for different health checks with large differences across the classes.Conclusions: Cost was most important when deciding whether to participate in a health check. Although cost was the most important factor, it is not sufficient to offer health checks free-of-charge if other requirements regarding how the test results are communicated are not in place; participants need to be able to understand their results.
|
|
| 9. |
- Grauman, Åsa, 1982-, et al.
(författare)
-
Exploring research participants' perceptions of cardiovascular risk information-Room for improvement and empowerment
- 2019
-
Ingår i: Patient Education and Counseling. - : Elsevier BV. - 0738-3991 .- 1873-5134. ; 102:8, s. 1528-1534
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The objective of this study was to explore research participants' (adults, age 50-65) perceptions of receiving cardiovascular risk information.METHODS: Five focus group interviews (N = 31) were performed with research participants aged 50-65 who participated in the Swedish CArdioPulmonary BioImage Study (SCAPIS). The interviews were analyzed using qualitative content analysis.RESULTS: The categories; the complexity of cardiovascular risk; insufficient presentation of test result; emotional responses; and health examinations provides confirmation, emerged. The test results were written in medical terms and lacked recommendations for further action which made it difficult for lay people to understand and use, and for some, also caused unnecessary worry.CONCLUSION: There was inadequate guidance concerning the implications of the test results, especially for participants without clinical findings. In order to allow research participants to obtain better cognitive and behavioral control, improvements are needed with regard to how personal risk information is communicated in research projects connected to health services.PRACTICAL IMPLICATIONS: The participants largely relied on physical signs when assessing their own cardiovascular risk. Health examinations are crucial for helping to add nuance to individuals' risk perceptions. For personal health information to have any real value for individuals, it must be designed from a user perspective.
|
|
| 10. |
- Grauman, Åsa, 1982-, et al.
(författare)
-
Good general health and lack of family history influence the underestimation of cardiovascular risk : A cross sectional study
- 2021
-
Ingår i: European Journal of Cardiovascular Nursing. - : Oxford University Press. - 1474-5151 .- 1873-1953. ; 20:7, s. 676-683
-
Tidskriftsartikel (refereegranskat)abstract
- Aims Underestimation of cardiovascular risk may interfere with prevention of cardiovascular diseases (CVDs). We investigate whether general health and family history of myocardial infarction (MI) are associated with underestimation of perceived cardiovascular risk, and if the participants' calculated risk modifies that association.Methods and results The analysis sample consisted of 526 individuals, 50-64 years old, from a population-based cohort study. Information on general health (poor/fairly good, good, and very good/excellent), family history of MI, and self-perceived risk relative to others of similar age and sex were collected though a web-based survey. Participants were categorized into underestimation (n = 162, 31%), accurate estimation (n = 222, 42%), and overestimation (n = 142, 27%) of cardiovascular risk by comparing calculated Systematic Coronary Risk Estimation (SCORE) with self-perceived risk. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for underestimation vs. accurate estimation of cardiovascular risk were computed using logistic regression (n = 384). Very good general health (OR 2.60, 95% CI 1.10-6.16) and lack of family history (OR 2.27, 95% CI 1.24-4.18) were associated with underestimation of cardiovascular risk. The associations were modified by the participants' calculated risk level; the association was stronger for high-risk individuals; without family history OR 22.57 (95% CI 6.17-82.54); with very good/excellent health OR 15.78 (95% CI 3.73-66.87).Conclusion A good general health and the lack of family CVD history can obscure the presence of other risk factors and lead to underestimation of cardiovascular risk, especially for high-risk individuals. It is, therefore, crucial to address the fact that the development of CV disease may be silent and multifactorial.
|
|
