| 1. |
- Pal, Gian, et al.
(författare)
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Genetic Testing in Parkinson's Disease.
- 2023
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Ingår i: Movement Disorders. - 0885-3185 .- 1531-8257. ; 38:8, s. 1384-1396
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Tidskriftsartikel (refereegranskat)abstract
- Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is becoming more readily available in clinical, research, and direct-to-consumer settings. Although the potential utility of clinical testing is expanding, there are currently no proven gene-targeted therapies, but clinical trials are underway. Furthermore, genetic testing practices vary widely, as do knowledge and attitudes of relevant stakeholders. The specter of testing mandates financial, ethical, and physician engagement, and there is a need for guidelines to help navigate the myriad of challenges. However, to develop guidelines, gaps and controversies need to be clearly identified and analyzed. To this end, we first reviewed recent literature and subsequently identified gaps and controversies, some of which were partially addressed in the literature, but many of which are not well delineated or researched. Key gaps and controversies include: (1) Is genetic testing appropriate in symptomatic and asymptomatic individuals without medical actionability? (2) How, if at all, should testing vary based on ethnicity? (3) What are the long-term outcomes of consumer- and research-based genetic testing in presymptomatic PD? (4) What resources are needed for clinical genetic testing, and how is this impacted by models of care and cost-benefit considerations? Addressing these issues will help facilitate the development of consensus and guidelines regarding the approach and access to genetic testing and counseling. This is also needed to guide a multidisciplinary approach that accounts for cultural, geographic, and socioeconomic factors in developing testing guidelines. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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| 2. |
- Saunders-Pullman, Rachel, et al.
(författare)
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International Genetic Testing and Counseling Practices for Parkinson's Disease.
- 2023
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Ingår i: Movement Disorders. - 0885-3185 .- 1531-8257. ; 38:8, s. 1527-1535
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing.OBJECTIVES: The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.METHODS: A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership.RESULTS: Common hurdles across sites included cost and access to genetic testing, and counseling, as well as education on genetic counseling. Region-dependent differences in access to and availability of testing and counseling were most notable in Africa. High-income countries also demonstrated heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan-American and Asian countries.CONCLUSIONS: This survey highlights not only diversity of barriers in different regions but also the shared and highly actionable needs for improved education and access to genetic counseling and testing for PD worldwide. © 2023 International Parkinson and Movement Disorder Society.
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| 3. |
- Winkler, TW, et al.
(författare)
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Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
- 2022
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 580-
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Tidskriftsartikel (refereegranskat)abstract
- Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.
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| 4. |
- Biasiotto, Roberta, et al.
(författare)
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Public Preferences for Digital Health Data Sharing : Discrete Choice Experiment Study in 12 European Countries.
- 2023
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Ingår i: Journal of Medical Internet Research. - : JMIR Publications. - 1438-8871. ; 25
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: With new technologies, health data can be collected in a variety of different clinical, research, and public health contexts, and then can be used for a range of new purposes. Establishing the public's views about digital health data sharing is essential for policy makers to develop effective harmonization initiatives for digital health data governance at the European level.OBJECTIVE: This study investigated public preferences for digital health data sharing.METHODS: A discrete choice experiment survey was administered to a sample of European residents in 12 European countries (Austria, Denmark, France, Germany, Iceland, Ireland, Italy, the Netherlands, Norway, Spain, Sweden, and the United Kingdom) from August 2020 to August 2021. Respondents answered whether hypothetical situations of data sharing were acceptable for them. Each hypothetical scenario was defined by 5 attributes ("data collector," "data user," "reason for data use," "information on data sharing and consent," and "availability of review process"), which had 3 to 4 attribute levels each. A latent class model was run across the whole data set and separately for different European regions (Northern, Central, and Southern Europe). Attribute relative importance was calculated for each latent class's pooled and regional data sets.RESULTS: A total of 5015 completed surveys were analyzed. In general, the most important attribute for respondents was the availability of information and consent during health data sharing. In the latent class model, 4 classes of preference patterns were identified. While respondents in 2 classes strongly expressed their preferences for data sharing with opposing positions, respondents in the other 2 classes preferred not to share their data, but attribute levels of the situation could have had an impact on their preferences. Respondents generally found the following to be the most acceptable: a national authority or academic research project as the data user; being informed and asked to consent; and a review process for data transfer and use, or transfer only. On the other hand, collection of their data by a technological company and data use for commercial communication were the least acceptable. There was preference heterogeneity across Europe and within European regions.CONCLUSIONS: This study showed the importance of transparency in data use and oversight of health-related data sharing for European respondents. Regional and intraregional preference heterogeneity for "data collector," "data user," "reason," "type of consent," and "review" calls for governance solutions that would grant data subjects the ability to control their digital health data being shared within different contexts. These results suggest that the use of data without consent will demand weighty and exceptional reasons. An interactive and dynamic informed consent model combined with oversight mechanisms may be a solution for policy initiatives aiming to harmonize health data use across Europe.
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| 5. |
- Biasiotto, Roberta, et al.
(författare)
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The dynamic consent of the Cooperative Health Research in South Tyrol (CHRIS) study : broad aim within specific oversight and communication
- 2021
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Ingår i: BIOLAW JOURNAL-RIVISTA DI BIODIRITTO. - : UNIV TRENTO, FAC LAW. - 2284-4503. ; :1, s. 277-287
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Tidskriftsartikel (refereegranskat)abstract
- In biobanking and genomics research, data and samples are stored for long time and used in further studies, which may not be sufficiently specified or foreseen at the time of the initial consent. The dynamic consent of the CHRIS study integrates broad research aims, specific oversight and governance mechanisms, and continuous communication with participants, and allows nuanced choices to be changed over time. With this paper, we describe the CHRIS dynamic consent, and illustrate, by discussing data sharing and ongoing consent in the CHRIS study, how dynamic consent can actualize an informed consent model that is suitable for biobanking and genomic research.
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| 6. |
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| 7. |
- Cook, Lola, et al.
(författare)
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The commercial genetic testing landscape for Parkinson's disease
- 2021
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Ingår i: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 92, s. 107-111
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionThere have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.MethodsThe National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.ResultsWe identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.ConclusionThere is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.
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| 8. |
- Emmert, David B., et al.
(författare)
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Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample : The CHRIS Study
- 2021
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Ingår i: Biomolecules. - : MDPI. - 2218-273X. ; 11:11
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Tidskriftsartikel (refereegranskat)abstract
- Atrial fibrillation (AF) is a supraventricular arrhythmia deriving from uncoordinated electrical activation with considerable associated morbidity and mortality. To expand the limited understanding of AF biological mechanisms, we performed two screenings, investigating the genetic and metabolic determinants of AF in the Cooperative Health Research in South Tyrol study. We found 110 AF cases out of 10,509 general population individuals. A genome-wide association scan (GWAS) identified two novel loci (p-value < 5 x 10(-8)) around SNPs rs745582874, next to gene PBX1, and rs768476991, within gene PCCA, with genotype calling confirmed by Sanger sequencing. Risk alleles at both SNPs were enriched in a family detected through familial aggregation analysis of the phenotype, and both rare alleles co-segregated with AF. The metabolic screening of 175 metabolites, in a subset of individuals, revealed a 41% lower concentration of lysophosphatidylcholine lysoPC a C20:3 in AF cases compared to controls (p-adj = 0.005). The genetic findings, combined with previous evidence, indicate that the two identified GWAS loci may be considered novel genetic rare determinants for AF. Considering additionally the association of lysoPC a C20:3 with AF by metabolic screening, our results demonstrate the valuable contribution of the combined genomic and metabolomic approach in studying AF in large-scale population studies.
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| 9. |
- Grauman, Åsa, 1982-, et al.
(författare)
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Precision cancer medicine and the doctor-patient relationship : a systematic review and narrative synthesis
- 2023
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Ingår i: BMC Medical Informatics and Decision Making. - : BioMed Central (BMC). - 1472-6947. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The implementation of precision medicine is likely to have a huge impact on clinical cancer care, while the doctor-patient relationship is a crucial aspect of cancer care that needs to be preserved. This systematic review aimed to map out perceptions and concerns regarding how the implementation of precision medicine will impact the doctor-patient relationship in cancer care so that threats against the doctor-patient relationship can be addressed.METHODS: Electronic databases (Pubmed, Scopus, Web of Science, Social Science Premium Collection) were searched for articles published from January 2010 to December 2021, including qualitative, quantitative, and theoretical methods. Two reviewers completed title and abstract screening, full-text screening, and data extraction. Findings were summarized and explained using narrative synthesis.RESULTS: Four themes were generated from the included articles (n = 35). Providing information addresses issues of information transmission and needs, and of complex concepts such as genetics and uncertainty. Making decisions in a trustful relationship addresses opacity issues, the role of trust, and and physicians' attitude towards the role of precision medicine tools in decision-making. Managing negative reactions of non-eligible patients addresses patients' unmet expectations of precision medicine. Conflicting roles in the blurry line between clinic and research addresses issues stemming from physicians' double role as doctors and researchers.CONCLUSIONS: Many findings have previously been addressed in doctor-patient communication and clinical genetics. However, precision medicine adds complexity to these fields and further emphasizes the importance of clear communication on specific themes like the distinction between genomic and gene expression and patients' expectations about access, eligibility, effectiveness, and side effects of targeted therapies.
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| 10. |
- Heinzel, Sebastian, et al.
(författare)
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Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
- 2022
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Ingår i: Medizinische Genetik. - : Walter de Gruyter. - 0936-5931 .- 1863-5490. ; 34:2, s. 151-156
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Tidskriftsartikel (refereegranskat)abstract
- Reduced penetrance is an important but underreported aspect in monogenic diseases. It refers to the phenomenon that carriers of pathogenic variants do not manifest with an overt disease. Clinical expressivity, on the other hand, describes the degree to which certain disease characteristics are present. In this article, we discuss the implications of reduced penetrance on genetic testing and counseling, outline how penetrance can be estimated in rare diseases using large cohorts and review the ethical, legal and social implications of studying non-manifesting carriers of pathogenic mutations. We highlight the interplay between reduced penetrance and the prodromal phase of a neurodegenerative disorder through the example of monogenic Parkinson's disease and discuss the therapeutic implications.
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| 11. |
- Iacomussi, Sofia, et al.
(författare)
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Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
- 2021
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Ingår i: Biopreservation and Biobanking. - : Mary Ann Liebert. - 1947-5535 .- 1947-5543. ; 19:6, s. 483-492
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Tidskriftsartikel (refereegranskat)abstract
- The discussion concerning the measure of the quality of a biobank should focus not only on the number of stored samples and their quality but also on the assessment of their access arrangements and governance. This article aims at contributing to the ongoing debate on samples and data access governance in biobanking by presenting the case of the Telethon Network of Genetic Biobanks (TNGB). We attempt to contribute to the need for clear and available access criteria and harmonization in access arrangements to maximize the influence of biobanks in the progress of biomedical research. We reviewed all the sample requests submitted to the TNGB from 2008 to 2020, focusing on those rejected by the Access Committee and the reasons behind the rejections. The analysis of the reasons behind the rejected requests allowed us to analyze how those relate to the issues of scientific misconduct, prioritization, and noncompliance with the biobank's mission. We discuss those issues in light of the actions and motivations used by TNGB in the access decision-making process. Based on this analysis, we suggest that a cross-implementation of a checklist for access assessment would improve the whole access process, ensuring a more transparent and smoother governance. Finally, we conclude that the TNGB's Charter and approach toward access governance could contribute as an important reference point to deal with the issues that have emerged in the international discussion on the topic.
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| 12. |
- 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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| 13. |
- Mascalzoni, Deborah, 1973-, et al.
(författare)
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Balancing scientific interests and the rights of participants in designing a recall by genotype study
- 2021
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Ingår i: European Journal of Human Genetics. - : Springer Nature. - 1018-4813 .- 1476-5438. ; 29:7, s. 1146-1157
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Tidskriftsartikel (refereegranskat)abstract
- Recall by genotype (RbG) studies aim to better understand the phenotypes that correspond to genetic variants of interest, by recruiting carriers of such variants for further phenotyping. RbG approaches pose major ethical and legal challenges related to the disclosure of possibly unwanted genetic information. The Cooperative Health Research in South Tyrol (CHRIS) study is a longitudinal cohort study based in South Tyrol, Italy. Demand has grown for CHRIS study participants to be enrolled in RbG studies, thus making the design of a suitable ethical framework a pressing need. We here report upon the design of a pilot RbG study conducted with CHRIS study participants. By reviewing the literature and by consulting relevant stakeholders (CHRIS participants, clinical geneticists, ethics board, GPs), we identified key ethical issues in RbG approaches (e.g. complexity of the context, communication of genetic results, measures to further protect participants). The design of the pilot was based on a feasibility assessment, the selection of a suitable test case within the ProtectMove Research Unit on reduced penetrance of hereditary movement disorders, and the development of appropriate recruitment and communication strategies. An empirical study was embedded in the pilot study with the aim of understanding participants' views on RbG. Our experience with the pilot study in CHRIS allowed us to contribute to the development of best practices and policies for RbG studies by drawing recommendations: addressing the possibility of RbG in the original consent, implementing tailored communication strategies, engaging stakeholders, designing embedded empirical studies, and sharing research experiences and methodology.
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| 14. |
- Mascalzoni, Deborah, 1973-, et al.
(författare)
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Participant perspective on the recall-by-genotype research approach : a mixed-method embedded study with participants of the CHRIS study.
- 2023
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438.
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Tidskriftsartikel (refereegranskat)abstract
- Recall-by-genotype (RbG) research recruits participants previously involved in genetic research based on their genotype. RbG enables the further study of a particular variant of interest, but in recalling participants, it risks disclosing potentially unwanted or distressing genetic information. Any RbG strategy must therefore be done in a manner that addresses the potential ethical and social issues. As part of an RbG pilot on the penetrance of Parkinson's disease variants, we conducted an empirical mixed-method study with 51 participants of the Cooperative Health Research in South Tyrol (CHRIS) study to understand participant views on RbG research approach. Participants were disclosed the disease under investigation but not the individual variant carrier status. Results showed that participants filtered the information received through personal experience and enacted mechanisms to address the concerns raised by invitation by resorting to personal resources and the support provided by experts. While the non-disclosure of the Parkin variant carrier status was deemed acceptable, disclosing the disease under study was important for participants. Participant preferences for disclosure of the disease under investigation and the carrier status varied according to how the knowledge of individual carrier status was perceived to impact the participant's life. This study provided insights into participant response to the RbG research approach, which are relevant for RbG policy development. A suitable communication strategy and granular options addressing preferences for invitation in the original informed consent are critical for an ethically informed RbG policy.
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| 15. |
- Mascalzoni, Deborah, 1973-, et al.
(författare)
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Ten years of dynamic consent in the CHRIS study : informed consent as a dynamic process
- 2022
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Ingår i: European Journal of Human Genetics. - : Springer Nature. - 1018-4813 .- 1476-5438. ; 30:12, s. 1391-1397
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Tidskriftsartikel (refereegranskat)abstract
- The Cooperative Health Research in South Tyrol (CHRIS) is a longitudinal study in Northern Italy, using dynamic consent since its inception in 2011. The CHRIS study collects health data and biosamples for research, and foresees regular follow-ups over time. We describe the experience with the CHRIS study dynamic consent, providing an overview of its conceptualization and implementation, and of the participant-centered strategies used to assess and improve the process, directly linked to participation and communication. In order to comply with high ethical standards and to allow broadness in the areas of research, CHRIS dynamic consent was conceived as an interactive process: based on a strong governance and an ongoing tailored communication with participants, it aims to promote autonomy and to develop a trust-based engaged relationship with participants, also relevant for retention. Built within an online platform, the consent allows granular choices, which can be changed over time. In a process of co-production, participants views have been investigated and kept into account in policy development. Participants showed a high degree of participation, thus enabling the consolidation of the CHRIS resources. Even though a low change rate was reported in the baseline, participants valued the possibility of changing their informed consent choices. Communication (language-tailored, ongoing, multimedia) was important for participants, and for participation and retention. In our experience, dynamic consent was proven to be a flexible consent model, which allowed to meet ethical and legal standards for participation in research, and to accommodate participants' and researchers' needs.
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| 16. |
- Melotti, Roberto, et al.
(författare)
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Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley
- 2021
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Ingår i: Epidemiology and Infection. - : Cambridge University Press. - 0950-2688 .- 1469-4409. ; 149
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Tidskriftsartikel (refereegranskat)abstract
- Estimating the spread of SARS-CoV-2 infection in communities is critical. We surveyed 2244 stratified random sample community members of the Gardena valley, a winter touristic area, amidst the first expansion phase of the COVID-19 pandemic in Europe. We measured agreement between Diasorin and Abbott serum bioassay outputs and the Abbott optimal discriminant threshold of serum neutralisation titres with recursive receiver operating characteristic curve. We analytically adjusted serum antibody tests for unbiased seroprevalence estimate and analysed the determinants of infection with non-response weighted multiple logistic regression. SARS-CoV-2 seroprevalence was 26.9% (95% CI 25.2-28.6) by June 2020. The bioassays had a modest agreement with each other. At a lower threshold than the manufacturer's recommended level, the Abbott assay reflected greater discrimination of serum neutralisation capacity. Seropositivity was associated with place and economic activity, not with sex or age. Symptoms like fever and weakness were age-dependent. SARS-CoV-2 mitigation strategies should account for context in high prevalence areas.
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| 17. |
- Middleton, Anna, et al.
(författare)
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Global Public Perceptions of Genomic Data Sharing : What Shapes the Willingness to Donate DNA and Health Data?
- 2020
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 107:4, s. 743-752
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Tidskriftsartikel (refereegranskat)abstract
- Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison. This paper presents results from a very large public survey on attitudes toward genomic data sharing. Data from 36,268 individuals across 22 countries (gathered in 15 languages) are presented. In general, publics across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one's DNA and health data for research is relatively low, and trust in the process of data's being shared with multiple users (e.g., doctors, researchers, governments) is also low. Participants were most willing to donate DNA or health information for research when the recipient was specified as a medical doctor and least willing to donate when the recipient was a for-profit researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries. Genetic information was not uniformly seen as different from other forms of health information, but there was an association between seeing genetic information as special in some way compared to other health data and increased willingness to donate. The global perspective provided by our "Your DNA, Your Say" study is valuable for informing the development of international policy and practice for sharing genomic data. It highlights that the research community not only needs to be worthy of trust by the public, but also urgent steps need to be taken to authentically communicate why genomic research is necessary and how data donation, and subsequent sharing, is integral to this.
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| 18. |
- Milne, Richard, et al.
(författare)
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Demonstrating trustworthiness when collecting and sharing genomic data : public views across 22 countries
- 2021
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Ingår i: Genome Medicine. - : Springer Science and Business Media LLC. - 1756-994X. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundPublic trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this.MethodsWe analyse the ‘Your DNA, Your Say’ online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle- and high-income countries, gathered in 15 languages. We examine how participants perceived the relative value of measures to demonstrate the trustworthiness of those using donated DNA and/or medical information. We examine between-country variation and present a consolidated ranking of measures.ResultsProviding transparent information about who will benefit from data access was the most important measure to increase trust, endorsed by more than 50% of participants across 20 of 22 countries. It was followed by the option to withdraw data and transparency about who is using data and why. Variation was found for the importance of measures, notably information about sanctions for misuse of data—endorsed by 5% in India but almost 60% in Japan. A clustering analysis suggests alignment between some countries in the assessment of specific measures, such as the UK and Canada, Spain and Mexico and Portugal and Brazil. China and Russia are less closely aligned with other countries in terms of the value of the measures presented.ConclusionsOur findings highlight the importance of transparency about data use and about the goals and potential benefits associated with data sharing, including to whom such benefits accrue. They show that members of the public value knowing what benefits accrue from the use of data. The study highlights the importance of locally sensitive measures to increase trust as genomic data sharing continues globally.
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| 19. |
- Milne, Richard, et al.
(författare)
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Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries
- 2022
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 24:5, s. 1120-1129
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. Methods: We analyzed the “Your DNA, Your Say” online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gathered in 15 languages. We analyzed how participants responded when asked whether return of results (RoR) would motivate their decision to donate DNA or health data. We examined variation across the study countries and compared the responses of participants from other countries with those from the United States, which has been the subject of the majority of research on return of genomic results to date. Results: There was substantial variation in the extent to which respondents reported being influenced by RoR. However, only respondents from Russia were more influenced than those from the United States, and respondents from 20 countries had lower odds of being partially or wholly influenced than those from the United States. Conclusion: There is substantial international variation in the extent to which the RoR may motivate people's intent to donate DNA or health data. The United States may not be a clear indicator of global attitudes. Participants’ preferences for return of genomic results globally should be considered.
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| 20. |
- Parziale, Andrea, et al.
(författare)
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Digital Biomarkers in Psychiatric Research : Data Protection Qualifications in a Complex Ecosystem
- 2022
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Ingår i: Frontiers in Psychiatry. - : Frontiers Media S.A.. - 1664-0640. ; 13
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Forskningsöversikt (refereegranskat)abstract
- Psychiatric research traditionally relies on subjective observation, which is time-consuming and labor-intensive. The widespread use of digital devices, such as smartphones and wearables, enables the collection and use of vast amounts of user-generated data as "digital biomarkers." These tools may also support increased participation of psychiatric patients in research and, as a result, the production of research results that are meaningful to them. However, sharing mental health data and research results may expose patients to discrimination and stigma risks, thus discouraging participation. To earn and maintain participants' trust, the first essential requirement is to implement an appropriate data governance system with a clear and transparent allocation of data protection duties and responsibilities among the actors involved in the process. These include sponsors, investigators, operators of digital tools, as well as healthcare service providers and biobanks/databanks. While previous works have proposed practical solutions to this end, there is a lack of consideration of positive data protection law issues in the extant literature. To start filling this gap, this paper discusses the GDPR legal qualifications of controller, processor, and joint controllers in the complex ecosystem unfolded by the integration of digital biomarkers in psychiatric research, considering their implications and proposing some general practical recommendations.
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| 21. |
- Pattaro, Cristian, et al.
(författare)
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Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau : the CHRIS COVID-19 study protocol
- 2022
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Ingår i: Pathogens and Global Health. - : Taylor & Francis. - 2047-7724 .- 2047-7732. ; 116:2, s. 128-136
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Tidskriftsartikel (refereegranskat)abstract
- The COVID-19 pandemic has been threatening the healthcare and socioeconomic systems of entire nations. While population-based surveys to assess the distribution of SARS-CoV-2 infection have become a priority, pre-existing longitudinal studies are ideally suited to assess the determinants of COVID-19 onset and severity.The Cooperative Health Research In South Tyrol (CHRIS) study completed the baseline recruitment of 13,393 adults from the Venosta/Vinschgau rural district in 2018, collecting extensive phenotypic and biomarker data, metabolomic data, densely imputed genotype and whole-exome sequencing data.Based on CHRIS, we designed a prospective study, called CHRIS COVID-19, aimed at: 1) estimating the incidence of SARS-CoV-2 infections; 2) screening for and investigating the determinants of incident infection among CHRIS participants and their household members; 3) monitoring the immune response of infected participants prospectively.An online screening questionnaire was sent to all CHRIS participants and their household members. A random sample of 1450 participants representative of the district population was invited to assess active (nasopharyngeal swab) or past (serum antibody test) infections. We prospectively invited for complete SARS-CoV-2 testing all questionnaire completers gauged as possible cases of past infection and their household members. In positive tested individuals, antibody response is monitored quarterly for one year. Untested and negative participants receive the screening questionnaire every four weeks until gauged as possible incident cases or till the study end.Originated from a collaboration between researchers and community stakeholders, the CHRIS COVID-19 study aims at generating knowledge about the epidemiological, molecular, and genetic characterization of COVID-19 and its long-term sequelae.
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| 22. |
- Prasuhn, Jannik, et al.
(författare)
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Task matters-challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls
- 2021
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Ingår i: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 86, s. 101-104
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Tidskriftsartikel (refereegranskat)abstract
- Background: Heterozygous carriers of Parkin mutations are suggested to be at risk of developing Parkinson's disease, while biallelic variants are associated with typical autosomal recessive early-onset PD. Investigating unaffected heterozygous mutation carriers holds the potential of a deeper understanding of monogenic PD and has implications for PD in general, in particular regarding the prodromal phase.Objectives: To discriminate healthy Parkin mutation carriers from healthy non-mutation carriers using a multimodal approach.Methods: Twenty-seven healthy heterozygous Parkin mutation carriers (13 female. age: 48 +/- 13 years) and 24 healthy non-mutation carriers (14 female. age: 48 +/- 15 years) from the CHRIS study (Cooperative Health Research in South Tyrol) were recalled based on their genetic profile and underwent a blinded assessment of motor and non-motor PD symptoms, transcranial sonography and sensor-based posturography and gait analyses under different conditions with increasing difficulty. For the latter, gradient-boosted trees were used to discriminate between carriers and non-carriers. The classification accuracy and the area under the curve of the receiver-operator characteristics curve were calculated.Results: We observed no differences concerning motor or non-motor symptoms and substantia nigra hyperechogenicity. The best gradient-boosted trees-based model on posturography measurements (tandem feet, eyes closed, firm surface), however, showed a classification accuracy of up to 86%. The best-performing gradientboosted trees-based model for gait analyses showed a balanced accuracy of up to 87% (dual-tasking).Conclusions: Sensor-based quantification of movements allows to discriminate unaffected heterozygous mutation carriers from mutation-free controls. Thereby, it is crucial to challenge the motor system with more difficult tasks to unmask subtle motor alterations.
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| 23. |
- Romano, Virginia, et al.
(författare)
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Italian public's views on sharing genetic information and medical information : findings from the ‘Your DNA, Your Say’ study
- 2021
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Ingår i: Wellcome Open Research. - : F1000 Research Ltd. - 2398-502X. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- Background: The collection and sharing of genomic and health data underpins global efforts to develop genomic medicine services. ‘Your DNA, Your Say’ is a cross-sectional survey with the goal of gathering lay public attitudes toward the access and sharing of deoxyribonucleic acid (DNA) information and medical information. It suggests significant international variation in the willingness to share information, and in trust in the actors associated with the collection and use of this information. This paper explores these questions in the Italian context. Methods: The Italian Your DNA, Your Say campaign led to the collection of 1229 valid questionnaires. The sample was analysed using standard descriptive statistics. We described the sample in terms of gender, age ranges and self-reported religiosity, and split the sample amongst the five typically studied Italian macro-areas to explore regional variation. We analysed the relationship between these factors and trust and willingness to share medical and DNA information.Results: The majority of the sample, across all socio-demographics, were willing to share DNA and health information with all entities considered except for-profit researchers. Respondents tended not to trust institutions beyond their own doctor. There was no difference between Italian regions.Conclusions: Despite the generally positive attitude towards sharing, we suggest that the lack of trust in non-profit researchers and the government needs to be better understood to inform public communication projects around genomics in the future and to enhance awareness of DNA and medical information in Italy.
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| 24. |
- Romano, Virginia, et al.
(författare)
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Italians locked down : people's responses to early COVID-19 pandemic public health measures
- 2022
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Ingår i: Humanities and Social Sciences Communications. - : Springer Nature. - 2662-9992. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- At the beginning of 2020, the widespread diffusion of SARS-CoV-2 rapidly became a worldwide priority. In Italy, the government implemented a lockdown for more than two months (March 9–May 18). Aware of the uniqueness of such an experience, we designed an online qualitative study focused on three main dimensions: daily life during the lockdown, relationships with others, and public health issues. The aim was to gain insights into people’s experiences of, and attitudes toward, the changes caused by public health measures implemented as a response to the COVID-19 pandemic. We conducted 18 semi-structured interviews with Italian residents. The interviewees were recruited through mediators using purposive sampling to obtain a balanced sample with respect to age, gender, education, and geographical residence. Interviews were analyzed through qualitative content analysis. The lockdown affected a variety of aspects of people’s life, resulting in a significant re-shaping of daily activities and relationships. These changes, which entailed both positive and negative aspects, were met with resilience. Even though public health measures were generally considered acceptable and adequate, they were also perceived to generate uncertainty and stress as well as to reveal tensions within the public health system. When tasked with imagining a scenario with saturated intensive care units and the need for selection criteria, respondents showed a tendency to dodge the question and struggled to formulate criteria. Media and news were found to be confusing, leading to a renewed critical attitude toward information. The findings shed some light on the impact of the lockdown on people’s daily life and its effects on relationships with others. Furthermore, the study contributes to an understanding of people’s reasons for, and capacity to respond to, emergency public health measures.
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| 25. |
- Rubinstein, Yaffa R., et al.
(författare)
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The case for open science : rare diseases
- 2020
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Ingår i: JAMIA Open. - : Oxford University Press (OUP). - 2574-2531. ; 3:3, s. 472-486
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Forskningsöversikt (refereegranskat)abstract
- The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally.
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| 26. |
- Shah, N., et al.
(författare)
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Governing health data across changing contexts : A focus group study of citizen’s views in England, Iceland, and Sweden
- 2021
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Ingår i: International Journal of Medical Informatics. - : Elsevier. - 1386-5056 .- 1872-8243. ; 156
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe governance structures associated with health data are evolving in response to advances in digital technologies that enable new ways of capturing, using, and sharing different types of data. Increasingly, health data moves between different contexts such as from healthcare to research, or to commerce and marketing. Crossing these contextual boundaries has the potential to violate societal expectations about the appropriate use of health data and diminish public trust. Understanding citizens’ views on the acceptability of and preferences for data use in different contexts is essential for developing information governance policies in these new contexts.MethodsFocus group design presenting data sharing scenarios in England, Iceland, and Sweden.ResultsSeventy-one participants were recruited. Participants supported the need for data to help understand the observable world, improve medical research, the quality of public services, and to benefit society. However, participants consistently identified the lack of information, transparency and control as barriers to trusting organisations to use data in a way that they considered appropriate. There was considerable support for fair and transparent data sharing practices where all parties benefitted.ConclusionData governance policy should involve all stakeholders’ perspectives on an ongoing basis, to inform and implement changes to health data sharing practices that accord with stakeholder views. The Findings showed that (1) data should be used for ethical purposes even when there was commercial interest; (2) data subjects and/or public institutions that provide and share data should also receive benefits from the sharing of data; (3) third parties use of data requires greater transparency and accountability than currently exists, (4) there should be greater information provided to empower data subjects.
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| 27. |
- Staunton, Ciara, et al.
(författare)
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Appropriate Safeguards and Article 89 of the GDPR : Considerations for Biobank, Databank and Genetic Research
- 2022
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Ingår i: Frontiers in Genetics. - : Frontiers Media S.A.. - 1664-8021. ; 13
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Forskningsöversikt (refereegranskat)abstract
- The collection and use of biological samples and data for genetic research, or for storage in a biobank or databank for future research, impacts upon many fundamental rights, including the right to dignity, the right to private and family life, the right to protection of personal data, the right to freedom of arts and sciences, and the right to non-discrimination. The use of genetic data and other health-related data in this context must be used in a manner that is rooted in human rights. Owing in part to the General Data Protection Regulation (GDPR) coming into force, the right to the protection of personal data in the context of scientific research has been afforded increasing attention. The GDPR gives effect to the right to data protection, but states that this right must be balanced against other rights and interests. The GDPR applies to all personal data, with specific attention to special categories of data, that includes health and genetic data. The collection, access to, and sharing of such data must comply with the GDPR, and therefore directly impacts the use of such data in research. The GDPR does provide for several derogations and exemptions for research from many of the strict processing requirements. Such derogations are permitted only if there are appropriate safeguards in place. Article 89 states that to be appropriate, safeguards must be "in accordance" with the GDPR "for the rights and freedoms of the data subject". In particular, those safeguards must ensure "respect for the principle of data minimisation". Despite the importance of safeguards, the GDPR is silent as to the specific measures that may be adopted to meet these requirements. This paper considers Article 89 and explores safeguards that may be deemed appropriate in the context of biobanks, databanks, and genetic research.
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| 28. |
- Staunton, Ciara, et al.
(författare)
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Return of research results (RoRR) to the healthy CHRIS cohort : designing a policy with the participants
- 2021
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Ingår i: Journal of Community Genetics. - : Springer Nature. - 1868-310X .- 1868-6001. ; 12:4, s. 577-592
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Tidskriftsartikel (refereegranskat)abstract
- Legal, financial and organizational challenges and the absence of coherent international guidelines and legal frameworks still discourage many genetic studies to share individual research results with their participants. Studies and institutions deciding to return genetic results will need to design their own study-specific return policy after due consideration of the ethical responsibilities. The Cooperative Health Research in South Tyrol (CHRIS) study, a healthy cohort study, did not foresee the return of individual genomic results during its baseline phase. However, as it was expected that the follow-up phase would generate an increasing amount of reliable genetic results, an update of the return of research results (RoRR) policy became necessary. To inform this revision, an empirical study using mixed methods was developed to investigate the views of CHRIS research participants (20), local general practitioners (3) and the local genetic counselling service (1). During the interviews, three different examples of potential genetic results with a very diverse potential impact on participants were presented: breast cancer, Parkinson disease and Huntington disease. The CHRIS participants also completed a short questionnaire, collecting personal information and asking for a self-evaluation of their knowledge about genetics. This study made it clear that research participants want to make autonomous decisions on the disclosure or non-disclosure of their results. While the motivations for participants’ decisions were very diverse, we were able to identify several common criteria that had a strong influence on their choices. Providing information on these factors is crucial to enable participants to make truly informed decisions.
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| 29. |
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| 30. |
- Tschigg, Katharina, et al.
(författare)
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Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches : a scoping review
- 2022
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Ingår i: European Journal of Human Genetics. - : Springer Nature. - 1018-4813 .- 1476-5438. ; 30:9, s. 1000-1010
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Forskningsöversikt (refereegranskat)abstract
- Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or biobanking sub-studies that single out participants as eligible because of their specific individual genotypic information. However, existing regulatory and governance frameworks do not apply to all aspects of genotype-driven research approaches. The recall strategies disclose or withhold personal genotypic information with uncertain clinical utility. Accordingly, this scoping review aims to identify peculiar, explicit and implicit ethical, legal, and societal/social implications (ELSI) of RbG study designs. We conducted a systematic literature search of three electronic databases from November 2020 to February 2021. We investigated qualitative and quantitative research methods used to report ELSI aspects in RbG research. Congruent with other research findings, we identified a lack of qualitative research investigating the particular ELSI challenges with RbG. We included and analysed the content of twenty-five publications. We found a consensus on RbG posing significant ethical issues, dilemmas, barriers, concerns and societal challenges. However, we found that the approaches to disclosure and study-specific recall and communication strategies employed consent models and Return of Research Results (RoRR) policies varied considerably. Furthermore, we identified a high heterogeneity in perspectives of participants and experts about ELSI of study-specific RbG policies. Therefore, further fine-mapping through qualitative and empirical research is needed to draw conclusions and re-fine ELSI frameworks.
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| 31. |
- Viberg, Jennifer, et al.
(författare)
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Governance mechanisms for sharing of health data: An approach towards selecting attributes for complex discrete choice experiment studies
- 2021
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Ingår i: Technology in society. - : Elsevier BV. - 0160-791X .- 1879-3274. ; 66, s. 101625-101625
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Tidskriftsartikel (refereegranskat)abstract
- Background: Discrete Choice Experiment (DCE) is a well-established technique to elicit individual preferences, but it has rarely been used to elicit governance preferences for health data sharing. Objectives: The aim of this article was to describe the process of identifying attributes for a DCE study aiming to elicit preferences of citizens in Sweden, Iceland and the UK for governance mechanisms for digitally sharing different kinds of health data in different contexts. Methods: A three-step approach was utilised to inform the attribute and level selection: 1) Attribute identification, 2) Attribute development and 3) Attribute refinement. First, we developed an initial set of potential attributes from a literature review and a workshop with experts. To further develop attributes, focus group discussions with citizens (n = 13), ranking exercises among focus group participants (n = 48) and expert interviews (n = 18) were performed. Thereafter, attributes were refined using group discussion (n = 3) with experts as well as cognitive interviews with citizens (n = 11). Results: The results led to the selection of seven attributes for further development: 1) level of identification, 2) the purpose of data use, 3) type of information, 4) consent, 5) new data user, 6) collector and 7) the oversight of data sharing. Differences were found between countries regarding the order of top three attributes. The process outlined participants' conceptualisation of the chosen attributes, and what we learned for our attribute development phase. Conclusions: This study demonstrates a process for selection of attributes for a (multi-country) DCE involving three stages: Attribute identification, Attribute development and Attribute refinement. This study can contribute to improve the ethical aspects and good practice of this phase in DCE studies. Specifically, it can contribute to the development of governance mechanisms in the digital world, where people's health data are shared for multiple purposes.
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| 32. |
- Viberg, Jennifer, et al.
(författare)
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What ethical approaches are used by scientists when sharing health data? : An interview study
- 2022
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Ingår i: BMC Medical Ethics. - : BioMed Central (BMC). - 1472-6939. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Health data-driven activities have become central in diverse fields (research, AI development, wearables, etc.), and new ethical challenges have arisen with regards to privacy, integrity, and appropriateness of use. To ensure the protection of individuals' fundamental rights and freedoms in a changing environment, including their right to the protection of personal data, we aim to identify the ethical approaches adopted by scientists during intensive data exploitation when collecting, using, or sharing peoples' health data. Methods Twelve scientists who were collecting, using, or sharing health data in different contexts in Sweden, were interviewed. We used systematic expert interviews to access these scientists' specialist knowledge, and analysed the interviews with thematic analysis. Phrases, sentences, or paragraphs through which ethical values and norms were expressed, were identified and coded. Codes that reflected similar concepts were grouped, subcategories were formulated, and categories were connected to traditional ethical approaches. Results Through several examples, the respondents expressed four different ethical approaches, which formed the main conceptual categories: consideration of consequences, respect for rights, procedural compliance, and being professional. Conclusions To a large extent, the scientists' ethical approaches were consistent with ethical and legal principles. Data sharing was considered important and worth pursuing, even though it is difficult. An awareness of the complex issues involved in data sharing was reflected from different perspectives, and the respondents commonly perceived a general lack of practical procedures that would by default ensure ethical and legally compliant data collection and sharing. We suggest that it is an opportune time to move on from policy discussions to practical technological ethics-by-design solutions that integrate these principles into practice.
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| 33. |
- Viberg Johansson, Jennifer, et al.
(författare)
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Preferences of the Public for Sharing Health Data : Discrete Choice Experiment
- 2021
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Ingår i: JMIR Medical Informatics. - : JMIR Publications. - 2291-9694. ; 9:7
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Tidskriftsartikel (refereegranskat)abstract
- Background: Digital technological development in the last 20 years has led to significant growth in digital collection, use, and sharing of health data. To maintain public trust in the digital society and to enable acceptable policy-making in the future, it is important to investigate people’s preferences for sharing digital health data.Objective: The aim of this study is to elicit the preferences of the public in different Northern European countries (the United Kingdom, Norway, Iceland, and Sweden) for sharing health information in different contexts.Methods: Respondents in this discrete choice experiment completed several choice tasks, in which they were asked if data sharing in the described hypothetical situation was acceptable to them. Latent class logistic regression models were used to determine attribute-level estimates and heterogeneity in preferences. We calculated the relative importance of the attributes and the predicted acceptability for different contexts in which the data were shared from the estimates.Results: In the final analysis, we used 37.83% (1967/5199) questionnaires. All attributes influenced the respondents’ willingness to share health information (P<.001). The most important attribute was whether the respondents were informed about their data being shared. The possibility of opting out from sharing data was preferred over the opportunity to consent (opt-in). Four classes were identified in the latent class model, and the average probabilities of belonging were 27% for class 1, 32% for class 2, 23% for class 3, and 18% for class 4. The uptake probability varied between 14% and 85%, depending on the least to most preferred combination of levels.Conclusions: Respondents from different countries have different preferences for sharing their health data regarding the value of a review process and the reason for their new use. Offering respondents information about the use of their data and the possibility to opt out is the most preferred governance mechanism.
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