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Characteristics of the overall sample, stratified by view on return of results
Source publication
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 gat...
Contexts in source publication
Context 1
... sample consisted of 36,263 participants from 22 different countries. Participant characteristics stratified by perspective on RoR are shown in Table 2. Overall, 25.2% of the participants said they would not donate their DNA and medical information (regardless of RoR); 24.4% of the participants said their decision to donate would be partially influenced and 18.4% of the participants said their decision would be wholly influenced by RoR. ...Context 2
... reference categories for the outcome and primary predictor were "partially influenced" and the United States, respectively. Results for the association between country of residence and influence of RoR, adjusted for the factors listed earlier, are shown in Figure 2 and Supplemental Table 2. ...Citations
... Patients might be defensive regarding susceptible data, such as health and genomic data. Increased transparency about who bene ts from data access and providing the option to withdraw are crucial measures to increase trust in health data sharing, potentially having a positive impact on the adherence and sharing to genetic testing in the rst place.(39) Similarly, if they are reassured, patients and citizens might as well undergo genetic testing for research purposes out of altruism rather than to get results back.(40) ...
Personalized medicine, leveraging genetic, environmental, and lifestyle data, has transformed healthcare by tailoring prevention, diagnosis, and treatment to individual patients. The successful implementation of personalized approaches relies on the public's awareness and proficiency in personalized medicine, enabling access to innovative techniques and fostering a willingness to share health-related data. During two weeks in April 2023, we distributed an online survey to 6,581 respondents from 8 EU countries, including France, Germany, the Netherlands, Italy, Spain, Poland, Hungary, and Romania. The survey investigated the general public’s knowledge of personalized medicine, support for implementing genetic testing in their healthcare system, and willingness to share health data. We built three indicators from survey questions and investigated their association with each other and the respondent’s gender, age, geographical area of origin, and education level. 52.5% of respondents were female (n = 3,458), with a mean age of 48.5 years (range 18–89 years, median = 49 years, SD = 15.96), and 37.91% of the participants reported achieving tertiary education. 12.11% of respondents had a high compound knowledge of the topics. Knowledge levels, however, vary among the included countries (highest in the Netherlands at 18.87%, lowest in France at 7.44%). 81.5%, instead, supported the implementation of diagnostic or therapeutic applications of genetic testing in their healthcare systems, and nuanced differences in acceptance were observed based on testing purposes. Over half of the respondents (52.35%) reported willingness to share health data for altruistic use. Both support for implementing genetic testing and the desire to share health data correlated positively with knowledge and education levels. Geographical differences within the EU highlighted variations in attitudes toward personalized medicine and data sharing, with respondents from Southern Europe displaying higher odds than their peers in Central and Eastern Europe. The results emphasize the need for targeted communication and education strategies to enhance public understanding and trust in personalized medicine and health data sharing.
... Donating for research may disrupt this sense of donation as a collective activity because the benefits, and beneficiaries of, research are less clear, potentially making donors more reticent to give. Finnish research reported that, similar to the general population, biobank participants expected returns in the form of being informed by the BCA about research findings that might have implications for either their personal or for public health (Raivola et al. 2019; see also Milne et al. 2022). These findings suggest that the principles of a reciprocal relationship between donors and BCA applies to other services offered by the same institution, potentially including return of individual-level genomic results. ...
... The large body of work exploring views on participation in genomic research and return of results by healthy individuals may also be instructive in understanding the views of blood donors on future genomic testing (Milne et al. 2022). Research with the Australian public found most wished to receive individual research results and incidental findings from research involving samples or tissue explicitly donated for that purpose, while a minority preferred not to be informed about genetic risk of an inherited disease Fleming et al. 2015). ...
This study examines how the institutional context informs the ways in which healthy recipients relate to genomic information. Through focus group data, it considers the trend of blood collection agencies (BCA) moving to extend donor genotyping. We investigated how receipt of genomic information is viewed as fitting into the contract of altruistic, voluntary blood donation by
donors and non-donors. Our findings suggest that receipt of genomic health information is viewed as fitting the principles of this exchange with some limits. Participants considered the practical value of receiving different kinds of genetic information for individual and collective health from the perspectives of a healthy, altruistic donor, an “entrepreneurial self” and a potential patient. Findings identify the importance of considering the ethics
of providing information on genomic markers to blood donors without current clinical value, as well as the impact of providing this information on the donor – BCA relationship.
... The European Commission Directorate-General for Research and Innovation has called for data "as open as possible and as closed as necessary": "open" where possible for reuse, but "closed" to protect privacy (65). Studies of public perception of genomic data sharing in 22 countries demonstrated that attitudes vary on increasing public trust in the process (66) and willingness to share data with for-profit researchers and medical doctors (67) in return for results (68). Thus, we argue that participant safety and wishes must be prioritized and should not be assumed to be universal. ...
Open science ensures that research is transparently reported and freely accessible for all to assess and collaboratively build on. Psychiatric genetics has led among the health sciences in implementing some open science practices in common study designs, such as replication as part of genome-wide association studies. However, thorough open science implementation guidelines are limited and largely not specific to data, privacy, and research conduct challenges in psychiatric genetics. Here, we present a primer of open science practices, including selection of a research topic with patients/nonacademic collaborators, equitable authorship and citation practices, design of replicable, reproducible studies, preregistrations, open data, and privacy issues. We provide tips for informative figures and inclusive, precise reporting. We discuss considerations in working with nonacademic collaborators and distributing research through preprints, blogs, social media, and accessible lecture materials. Finally, we provide extra resources to support every step of the research process.
... Therefore, these results might not be generalizable to secondary use of electronic health records. Other research regarding dissemination of results focused on individual results (e.g., Richter et al., 2018;Thorogood et al., 2014), on a specific type of health data, for example genetic data (e.g., Taylor et al., 2021), or on research participants in general, without taking into account which (if any) disease the participant has (e.g., Beskow et al., 2012;Milne et al., 2022). ...
When hospitals ask broad consent for the secondary use of patient data for scientific research, it is unknown for which studies the data will be used. We investigated what patients at a cancer hospital consider to be an adequate level and most suitable method of information provision using questionnaires (n = 71) and interviews (n = 24). A part of the respondents indicated that they would feel sufficiently informed by either being notified about potential further use, or by receiving a general brochure before being asked for consent. Others stated that additional information would be interesting and appreciated. Yet, when discussing required resources needed to provide additional information, interviewees lowered the bar of what they considered minimally required, voicing the importance of spending resources on research.
... For some but not all, it was a motivation to donate health data, including genomic data [199]. What is less clear is whether, in the absence of the return of individual results, the need for information could be satisfied by communication on aggregated or global research results. ...
Background:
Secondary use of health data has reached unequaled potential to improve health systems governance, knowledge, and clinical care. Transparency regarding this secondary use is frequently cited as necessary to address deficits in trust and conditional support and to increase patient awareness.
Objective:
We aimed to review the current published literature to identify different stakeholders’ perspectives and recommendations on what information patients and members of the public want to learn about the secondary use of health data for research purposes and how and in which situations.
Methods:
Using PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines, we conducted a scoping review using Medline, CINAHL, PsycINFO, Scopus, Cochrane Library, and PubMed databases to locate a broad range of studies published in English or French until November 2022. We included articles reporting a stakeholder’s perspective or recommendations of what information patients and members of the public want to learn about the secondary use of health data for research purposes and how or in which situations. Data were collected and analyzed with an iterative thematic approach using NVivo.
Results:
Overall, 178 articles were included in this scoping review. The type of information can be divided into generic and specific content. Generic content includes information on governance and regulatory frameworks, technical aspects, and scientific aims. Specific content includes updates on the use of one’s data, return of results from individual tests, information on global results, information on data sharing, and how to access one’s data. Recommendations on how to communicate the information focused on frequency, use of various supports, formats, and wording. Methods for communication generally favored broad approaches such as nationwide publicity campaigns, mainstream and social media for generic content, and mixed approaches for specific content including websites, patient portals, and face-to-face encounters. Content should be tailored to the individual as much as possible with regard to length, avoidance of technical terms, cultural competence, and level of detail. Finally, the review outlined 4 major situations where communication was deemed necessary: before a new use of data, when new test results became available, when global research results were released, and in the advent of a breach in confidentiality.
Conclusions:
This review highlights how different types of information and approaches to communication efforts may serve as the basis for achieving greater transparency. Governing bodies could use the results: to elaborate or evaluate strategies to educate on the potential benefits; to provide some knowledge and control over data use as a form of reciprocity; and as a condition to engage citizens and build and maintain trust. Future work is needed to assess which strategies achieve the greatest outreach while striking a balance between meeting information needs and use of resources.
... Return of individual results -particularly if perceived as potentially actionable -was a commonly cited example of a specific communication that patients and members of the public want; this was substantiated by other research [205,206]. For some but not all, it was a motivation to donate health data -including genomic data [207]. What is less clear is whether in the absence of return of individual results, the need for information could be satisfied by a communication on aggregated or global research results. ...
Background: Learning Health Systems rely on the secondary use of health data to improve care. Transparency regarding this
secondary use is frequently cited as necessary to increase patient awareness, support alternative approaches to consent, and foster
trust.
Objective: To review the current published literature to identify different stakeholders’ perspectives and recommendations on
what exactly should be communicated to members of the public regarding the secondary use of health data for research, how and
at what conditions.
Methods: Using PRISMA-ScR guidelines, we conducted a scoping review through several bibliographic databases (Medline,
CINAHL, PsycINFO, Scopus, Cochrane Database of Systematic Reviews, and PubMed) to locate a broad range of studies
published in English or French up to November 2022. We included articles that reported a stakeholder’s opinion or
recommendations of what should be communicated to patients or members of the public regarding the secondary use of health
data for research, how to communicate the information or at what conditions. Data were collected and analyzed using an iterative
thematic approach with NVivo software.
Results: A total of 178 articles was included in this scoping review. Communication was deemed crucial for many purposes
including: a) educating patients and members of the public on the potential benefits; b) giving some control over data use c) as a
form of reciprocity and, d) as a condition to build and maintain trust. Elements that should be communicated include generic
content such as governance and regulatory frameworks, scientific aims and potential future uses of the data and specific content
that is relevant to each person with regards to the use of their data. Methods for communication generally favored broad
approaches such as nationwide publicity campaigns, mainstream and social media for generic content and mixed approaches for
specific content including websites, patient portals and face-to-face encounters. Content should be tailored to the individual as
much as possible with regards to length, avoidance of technical terms, cultural competence, and level of detail.
Conclusions: This review can serve as a foundation for evaluating current communication approaches with regards to secondary
use of health data or designing future strategies. Future work will be needed to assess which strategies achieve the greatest
outreach while striking a balance between transparency and utilization of resources.
... For some but not all, it was a motivation to donate health data, including genomic data [199]. What is less clear is whether, in the absence of the return of individual results, the need for information could be satisfied by communication on aggregated or global research results. ...
BACKGROUND
Learning Health Systems rely on the secondary use of health data to improve care. Transparency regarding this secondary use is frequently cited as necessary to increase patient awareness, support alternative approaches to consent, and foster trust.
OBJECTIVE
To review the current published literature to identify different stakeholders’ perspectives and recommendations on what exactly should be communicated to members of the public regarding the secondary use of health data for research, how and at what conditions.
METHODS
Using PRISMA-ScR guidelines, we conducted a scoping review through several bibliographic databases (Medline, CINAHL, PsycINFO, Scopus, Cochrane Database of Systematic Reviews, and PubMed) to locate a broad range of studies published in English or French up to November 2022. We included articles that reported a stakeholder’s opinion or recommendations of what should be communicated to patients or members of the public regarding the secondary use of health data for research, how to communicate the information or at what conditions. Data were collected and analyzed using an iterative thematic approach with NVivo software.
RESULTS
A total of 178 articles was included in this scoping review. Communication was deemed crucial for many purposes including: a) educating patients and members of the public on the potential benefits; b) giving some control over data use c) as a form of reciprocity and, d) as a condition to build and maintain trust. Elements that should be communicated include generic content such as governance and regulatory frameworks, scientific aims and potential future uses of the data and specific content that is relevant to each person with regards to the use of their data. Methods for communication generally favored broad approaches such as nationwide publicity campaigns, mainstream and social media for generic content and mixed approaches for specific content including websites, patient portals and face-to-face encounters. Content should be tailored to the individual as much as possible with regards to length, avoidance of technical terms, cultural competence, and level of detail.
CONCLUSIONS
This review can serve as a foundation for evaluating current communication approaches with regards to secondary use of health data or designing future strategies. Future work will be needed to assess which strategies achieve the greatest outreach while striking a balance between transparency and utilization of resources.
... These differences were also associated with several factors including age, educational level, occupation, income and willingness to share genomic data. Importantly, although the majority of patients and informal carers were more willing to share genetic information for research (70% and 67%, respectively) than the general Portuguese population (56%) [29], the overall proportion of participants who were willing to share was substantially lower than that identified in a study carried out under the EURORDIS Rare Barometer Programme (97%) [6]. Comparing the benefits and risks of sharing genomic data considered most relevant by the three participant groups may help us to understand these disparities, as well as to provide insights to design and implement genomics research policy proportional to individuals' expectations and concerns [14]. ...
Assessing public and patients’ expectations and concerns about genomic data sharing is essential to promote adequate data governance and engagement in rare diseases genomics research. This cross-sectional study compared the views of 159 rare disease patients, 478 informal carers and 63 healthcare professionals in Northern Portugal about the benefits and risks of sharing genomic data for research, and its associated factors. The three participant groups expressed significantly different views. The majority of patients (84.3%) and informal carers (87.4%) selected the discovery of a cure for untreatable diseases as the most important benefit. In contrast, most healthcare professionals revealed a preference for the development of new drugs and treatments (71.4%), which was the second most selected benefit by carers (48.3%), especially by the more educated (OR (95% CI): 1.58 (1.07–2.34)). Lack of security and control over information access and the extraction of information exceeding research objectives were the two most often selected risks by patients (72.6% and 50.3%, respectively) and carers (60.0% and 60.6%, respectively). Conversely, professionals were concerned with genomic data being used to discriminate citizens (68.3%), followed by the extraction of information exceeding research objectives (54.0%). The latter risk was more frequently expressed by more educated carers (OR (95% CI): 1.60 (1.06–2.41)) and less by those with blue-collar (OR (95% CI): 0.44 (0.25–0.77) and other occupations (OR (95% CI): 0.44 (0.26–0.74)). Developing communication strategies and consent approaches tailored to participants’ expectations and needs can benefit the inclusiveness of genomics research that is key for patient-centred care.
Purpose
To understand participant preferences for receiving specific types of research information, whether information preferences vary across sociodemographic groups, and the types of health providers participants could access to understand returned information.
Methods
All of Us Research Program participants completed a value of returning research information survey. Stratified sampling was implemented to enhance participant diversity and avoid noncoverage. We used weighted multivariable logistic regression to evaluate associations between the most valuable information types, access to providers, and sociodemographic variables.
Results
Participants (N = 20,405) were diverse in their race/ethnicity (eg, 52% were White, 18% were Hispanic/Latino or Spanish, 3% were Asian, and 20% were Black or African American). Most participants (78.6%) valued information about their risk of serious genetic diseases with available treatment. Primary care physicians, specialists, and genetic counselors were the top providers that participants could access for help understanding returned information. Information preferences and provider access varied across sociodemographic groups. For example, as income levels increased, the odds of placing value on genetic results indicating risk of serious disease with available treatment increased when compared with the lowest income levels (P value < .001).
Conclusion
Although genetic information was most valuable to participants, preferences about specific information types varied across sociodemographic groups.
The return of individual genomic results (ROR) to research participants is still in its early phase, and insight on how individuals respond to ROR is scarce. Studies contributing to the evidence base for best practices are crucial before these can be established. Here, we describe a ROR procedure conducted at a population-based biobank, followed by surveying the responses of almost 3000 participants to a range of results, and discuss lessons learned from the process, with the aim of facilitating large-scale expansion. Overall, participants perceived the information that they received with counseling as valuable, even when the reporting of high risks initially caused worry. The face-to-face delivery of results limited the number of participants who received results. Although the participants highly valued this type of communication, additional means of communication need to be considered to improve the feasibility of large-scale ROR. The feedback collected sheds light on the value judgements of the participants and on potential responses to the receipt of genetic risk information. Biobanks in other countries are planning or conducting similar projects, and the sharing of lessons learned may provide valuable insight and aid such endeavors.
