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Martin, S., Angolini, E., Audi, J., Bertini, E., Bruno, L. P., Coulter, J., . . . Veldwijk, J. (2024). Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ Open, 14(4), Article ID e081835.
Open this publication in new window or tab >>Patient preferences in genetic newborn screening for rare diseases: study protocol
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2024 (English)In: BMJ Open, E-ISSN 2044-6055, Vol. 14, no 4, article id e081835Article in journal (Refereed) Published
Abstract [en]

Introduction Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients’ needs and general public perspectives into the shared decision-making process regarding gNBS. This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent’s perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany.

Methods and analysis A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) ‘healthy’ expecting parents from the general population in two countries (Germany and Italy). Focus groups and interviews using the nominal group technique and ranking exercises will be performed (qualitative phase). The results will inform the treatment of attributes to be assessed via a survey and a discrete choice experiment (DCE). The total recruitment sample will be 2084 participants (approximatively 1000 participants in each country for the online survey). A combination of thematic qualitative and logit-based quantitative approaches will be used to analyse the results of the study.

Ethics and dissemination This study has been approved by the Erlangen University Ethics Committee (22–246_1-B), the Freiburg University Ethics Committee (23–1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University (2022-05806-01). The dissemination of the results will be ensured via scientific journal publication (open access).

Place, publisher, year, edition, pages
BMJ Publishing Group Ltd, 2024
Keywords
GENETICS, Patient Participation, Patient Reported Outcome Measures, Patient-Centered Care, QUALITATIVE RESEARCH
National Category
Medical Genetics Medical Ethics Health Care Service and Management, Health Policy and Services and Health Economy
Research subject
Pediatrics; Health Care Research
Identifiers
urn:nbn:se:uu:diva-527432 (URN)10.1136/bmjopen-2023-081835 (DOI)001207681900016 ()38643010 (PubMedID)
Funder
EU, Horizon 2020
Available from: 2024-05-01 Created: 2024-05-01 Last updated: 2024-05-02Bibliographically approved
Garnier, N., Berghout, J., Zygmunt, A., Singh, D., Huang, K. A., Kantz, W., . . . Ferlini, A. (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLOS ONE, 18(11), Article ID e0293503.
Open this publication in new window or tab >>Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
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2023 (English)In: PLOS ONE, E-ISSN 1932-6203, Vol. 18, no 11, article id e0293503Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Public Library of Science (PLoS), 2023
National Category
Pediatrics Medical Genetics
Identifiers
urn:nbn:se:uu:diva-521890 (URN)10.1371/journal.pone.0293503 (DOI)001123197700050 ()37992053 (PubMedID)
Funder
EU, Horizon 2020
Available from: 2024-02-05 Created: 2024-02-05 Last updated: 2024-02-05Bibliographically approved
Schölin Bywall, K., Drevin, J., Groothuis-Oudshoorn, C., Veldwijk, J., Nyholm, D., Widner, H., . . . Viberg Johansson, J. (2023). Patients accept therapy using embryonic stem cells for Parkinson's disease: a discrete choice experiment. BMC Medical Ethics, 24(1), Article ID 83.
Open this publication in new window or tab >>Patients accept therapy using embryonic stem cells for Parkinson's disease: a discrete choice experiment
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2023 (English)In: BMC Medical Ethics, ISSN 1472-6939, E-ISSN 1472-6939, Vol. 24, no 1, article id 83Article in journal (Refereed) Published
Abstract [en]

Background: New disease-modifying ways to treat Parkinson's disease (PD) may soon become a reality with intracerebral transplantation of cell products produced from human embryonic stem cells (hESCs). The aim of this study was to assess what factors influence preferences of patients with PD regarding stem-cell based therapies to treat PD in the future.

Methods: Patients with PD were invited to complete a web-based discrete choice experiment to assess the importance of the following attributes: (i) type of treatment, (ii) aim of treatment, (iii) available knowledge of the different types of treatments, (iv) effect on symptoms, and (v) risk for severe side effects. Latent class conditional logistic regression models were used to determine preference estimates and heterogeneity in respondents' preferences.

Results: A substantial difference in respondents' preferences was observed in three latent preference patterns (classes). "Effect on symptoms" was the most important attribute in class 1, closely followed by "type of treatment," with medications as preferred to other treatment alternatives. Effect on symptoms was also the most important attribute in class 2, with treatment with hESCs preferred over other treatment alternatives. Likewise for class 3, that mainly focused on "type of treatment" in the decision-making. Respondents' class membership was influenced by their experience in treatment, side effects, and advanced treatment therapy as well as religious beliefs.

Conclusions: Most of the respondents would accept a treatment with products emanating from hESCs, regardless of views on the moral status of embryos. Preferences of patients with PD may provide guidance in clinical decision-making regarding treatments deriving from stem cells.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023
Keywords
Ethics, Human embryonic stem cells, Parkinson’s disease, Patient preferences
National Category
Medical Ethics Neurology
Identifiers
urn:nbn:se:uu:diva-514599 (URN)10.1186/s12910-023-00966-1 (DOI)001095852700001 ()37828462 (PubMedID)
Funder
Uppsala UniversityVinnova, 2017–02130Vinnova, 2017–02453Swedish Research Council Formas, 2017–02453Swedish Energy Agency, 2017–02453
Available from: 2023-10-19 Created: 2023-10-19 Last updated: 2023-12-05Bibliographically approved
Schölin Bywall, K., Esbensen, B. A., Heidenvall, M., Erlandsson, I., Lason, M., Hansson, M. G. & Viberg Johansson, J. (2023). Physical function and severe side effects matter most to patients with RA (< 5 years): a discrete choice experiment assessing preferences for personalized RA treatment. BMC Rheumatology, 7, Article ID 17.
Open this publication in new window or tab >>Physical function and severe side effects matter most to patients with RA (< 5 years): a discrete choice experiment assessing preferences for personalized RA treatment
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2023 (English)In: BMC Rheumatology, E-ISSN 2520-1026, Vol. 7, article id 17Article in journal (Refereed) Published
Abstract [en]

Aim

Early assessment of patient preferences has the potential to support shared decisions in personalized precision medicine for patients with rheumatoid arthritis (RA). The aim of this study was to assess treatment preferences of patients with RA (< 5 years) with previous experience of inadequate response to first-line monotherapy.

Method

Patients were recruited (March–June 2021) via four clinics in Sweden. Potential respondents (N = 933) received an invitation to answer a digital survey. The survey included an introductory part, a discrete choice experiment (DCE) and demographic questions. Each respondent answered 11 hypothetical choice questions as part of the DCE. Patient preferences and preference heterogeneity were estimated using random parameter logit models and latent class analysis models.

Results

Patients (n = 182) assessed the most important treatment attributes out of physical functional capacity, psychosocial functional capacity, frequency of mild side effects and likelihood of severe side effects. In general, patients preferred a greater increase in functional capacity and decreased side effects. However, a substantial preference heterogeneity was identified with two underlying preference patterns. The most important attribute in the first pattern was the ‘likelihood of getting a severe side effect’. Physical functional capacity was the most important attribute in the second pattern.

Conclusion

Respondents focused their decision-making mainly on increasing their physical functional capacity or decreasing the likelihood of getting a severe side effect. These results are highly relevant from a clinical perspective to strengthen communication in shared decision making by assessing patients’ individual preferences for benefits and risks in treatment discussions.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2023
National Category
Rheumatology and Autoimmunity
Identifiers
urn:nbn:se:uu:diva-508094 (URN)10.1186/s41927-023-00341-y (DOI)001021486600001 ()37400929 (PubMedID)
Funder
Mälardalen UniversityVinnovaThe Research Council of Norway, 90825Swedish Rheumatism Association
Available from: 2023-07-20 Created: 2023-07-20 Last updated: 2023-08-09Bibliographically approved
Matar, A., Hansson, M. G., Slokenberga, S., Panagiotopoulos, A., Chassang, G., Tzortzatou, O., . . . Beauvais, M. (2022). A proposal for an international Code of Conduct for data sharing in genomics. Developing World Bioethics, 23(4), 344-357
Open this publication in new window or tab >>A proposal for an international Code of Conduct for data sharing in genomics
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2022 (English)In: Developing World Bioethics, ISSN 1471-8731, E-ISSN 1471-8847, Vol. 23, no 4, p. 344-357Article in journal (Refereed) Published
Abstract [en]

As genomic research becomes commonplace across the world, there is an increased need to coordinate practices among researchers, especially with regard to data sharing. One such way is an international code of conduct. In September 2020, an expert panel consisting of representatives from various fields convened to discuss a draft proposal formed via a synthesis of existing professional codes and other recommendations. This article presents an overview and analysis of the main issues related to international genomic research that were discussed by the expert panel, and the results of the discussion and follow up responses by the experts. As a result, the article presents as an annex a proposal for an international code of conduct for data sharing in genomics that is meant to establish best practices.

Place, publisher, year, edition, pages
John Wiley & Sons, 2022
Keywords
biobanking, cloud computing, code of conduct, data protection, genomics, international data transfers, privacy
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-487139 (URN)10.1111/dewb.12381 (DOI)000870811900001 ()
Funder
EU, Horizon 2020, 741716
Available from: 2022-10-24 Created: 2022-10-24 Last updated: 2024-05-29Bibliographically approved
Grauman, Å., Hansson, M. G., Nyholm, D., Jiltsova, E., Widner, H., van Vliet, T. & Drevin, J. (2022). Attitudes and values among the Swedish general public to using human embryonic stem cells for medical treatment. BMC Medical Ethics, 23(1), Article ID 138.
Open this publication in new window or tab >>Attitudes and values among the Swedish general public to using human embryonic stem cells for medical treatment
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2022 (English)In: BMC Medical Ethics, ISSN 1472-6939, E-ISSN 1472-6939, Vol. 23, no 1, article id 138Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Springer Nature, 2022
Keywords
Surplus embryos, Moral concerns, Parkinson’s disease, Public perceptions
National Category
Medical Ethics
Research subject
Medical Science
Identifiers
urn:nbn:se:uu:diva-491938 (URN)10.1186/s12910-022-00878-6 (DOI)000903253800001 ()36550460 (PubMedID)
Funder
Vinnova, 2017-02130Uppsala University
Available from: 2022-12-28 Created: 2022-12-28 Last updated: 2023-01-23Bibliographically approved
Drevin, J., Nyholm, D., Widner, H., Van Vliet, T., Viberg Johansson, J., Jiltsova, E. & Hansson, M. G. (2022). Patients' views on using human embryonic stem cells to treat Parkinson's disease: an interview study. BMC Medical Ethics, 23, Article ID 102.
Open this publication in new window or tab >>Patients' views on using human embryonic stem cells to treat Parkinson's disease: an interview study
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2022 (English)In: BMC Medical Ethics, ISSN 1472-6939, E-ISSN 1472-6939, Vol. 23, article id 102Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Springer Nature, 2022
Keywords
hESC, ATMP, Human embryonic stem cells, Advanced therapy medicinal product, Parkinson's disease, Ethics
National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-487893 (URN)10.1186/s12910-022-00840-6 (DOI)000870254500001 ()36261826 (PubMedID)
Funder
Vinnova, 2017-02130Swedish Research Council FormasSwedish Energy Agency, 2017-02453Uppsala University
Available from: 2022-11-14 Created: 2022-11-14 Last updated: 2022-11-14Bibliographically approved
Laurie, S., Piscia, D., Matalonga, L., Corvo, A., Fernandez-Callejo, M., Garcia-Linares, C., . . . Beltran, S. (2022). The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human Mutation, 43(6), 717-733
Open this publication in new window or tab >>The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
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2022 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 43, no 6, p. 717-733Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
John Wiley & SonsWiley, 2022
Keywords
data sharing, data standardization, diagnostics, genome analysis, NGS, patient matchmaking, rare diseases
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-476113 (URN)10.1002/humu.24353 (DOI)000797970100009 ()35178824 (PubMedID)
Funder
EU, FP7, Seventh Framework Programme, 305444
Available from: 2022-06-08 Created: 2022-06-08 Last updated: 2024-01-15Bibliographically approved
Schölin Bywall, K., Holte, J., Brodin, T., Hansson, M. G. & Drevin, J. (2022). Would you consider donating your left-over embryos to treat Parkinson’s disease? Interviews with individuals that underwent IVF in Sweden. BMC Medical Ethics, 23, Article ID 124.
Open this publication in new window or tab >>Would you consider donating your left-over embryos to treat Parkinson’s disease? Interviews with individuals that underwent IVF in Sweden
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2022 (English)In: BMC Medical Ethics, ISSN 1472-6939, E-ISSN 1472-6939, Vol. 23, article id 124Article in journal (Refereed) Published
Abstract [en]

Background: Parkinson’s disease (PD) has been considered to be one of the most promising target diseases for forthcoming cell-based therapy. The aim of this study is to explore the views of individuals with cryopreserved embryos on using human embryonic stem cells for treating PD.

Methods: The study was performed as a qualitative, semi-structured interview study in June–October 2020. Participants were recruited at a private fertility clinic located in one of the larger Swedish cities. The clinic provides both publicly financed and privately financed IVF-treatments. All interviews were performed by telephone and analyzed using thematic content analysis. Five main categories emerged from 27 sub-categories.

Results: In total, 18 interviews were performed with 22 individuals, as either a couple (n = 16) or separately (n = 6). Participants had different views on what a cryopreserved embryo is. Some participants addressed cryopreserved embryos as ‘a lump of cells’, and some in terms of their ‘unborn child’. Conditions for donation of cryopreserved embryos for cell-based treatment in PD were: not losing control of what is happening to the embryo, that donating must be voluntary and based on informed consent with time for reflection, reimbursement, equality and transparency.

Conclusions: Using cryopreserved embryos to treat PD is associated with fundamental ethical and practical issues. This study shows that IVF couples with left-over embryos may be supportive but there is a need for future research to assess people’s views on using cryopreserved embryos for cell-based treatment in PD on a more aggregated level.

Place, publisher, year, edition, pages
Springer Nature, 2022
National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-489925 (URN)10.1186/s12910-022-00864-y (DOI)000893402400002 ()36463154 (PubMedID)
Funder
Uppsala UniversityVinnova, 2017-02130Swedish Research Council FormasSwedish Energy Agency, 2017-02453
Available from: 2022-12-06 Created: 2022-12-06 Last updated: 2022-12-27Bibliographically approved
Grauman, Å., Hansson, M. G., James, S., Hauber, B. & Veldwijk, J. (2021). Communicating test results from a general health checkup: the public’s preferences from a discrete choice experiment survey. Patient Related Outcome Measures, 14(5), 649-660
Open this publication in new window or tab >>Communicating test results from a general health checkup: the public’s preferences from a discrete choice experiment survey
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2021 (English)In: Patient Related Outcome Measures, E-ISSN 1179-271X, Vol. 14, no 5, p. 649-660Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Springer NatureSpringer Nature, 2021
Keywords
Health check; discrete choice experiment; stated preferences; predicted uptake rate; communication of test results; cardiovascular diseases; prevention
National Category
Health Sciences
Identifiers
urn:nbn:se:uu:diva-427325 (URN)DOI: 10.1007/s40271-021-00512-4 (DOI)000634311100001 ()
Available from: 2020-12-07 Created: 2020-12-07 Last updated: 2024-01-15Bibliographically approved
Projects
Mind the risk – Ethical, psychological and social implications of provision of risk information from genetic and related technologies. A joint European research program. [M13-0260:1_RJ]; Uppsala UniversityEthical and legal framework for the production of insulin in humans by using encapsulated hESC derived cells. [2016-02888_VR]; Uppsala University
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0002-4053-8468

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