Figure 2 - available via license: Creative Commons Attribution 4.0 International
Content may be subject to copyright.
Familiarity with Genetics (Including Familiarity Gained through Personal Experience), Stratified by Country Each bar shows the percentage of the sample for each country reporting level of familiarity with genetics/genomics. Each bar color represents a different self-reported level of familiarity-unfamiliar, conceptual familiarity, or familiarity through personal experience (e.g. through being a patient with a genetic condition).
Source publication
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 p...
Context in source publication
Context 1
... with the concepts of DNA, genetics, and genomics (summarized as ''familiarity with genetics'') varies by country (Figure 2), however, the majority of participants in most countries say that they are unfamiliar (total sample: 64.2%; Table S2), and only 35.8% of the total sample say that they have some familiarity with the concepts, including having personal experience of genetics (either through being a patient with a genetic condition, having a family history of a genetic condition, or working with such patients). ...
Citations
... 16 Additionally, the citation bursts of three papers continued until 2024, covering topics such as public attitudes toward the sharing of personal health data for research purposes, 18 the FAIR principles in data governance, 15 and global public perceptions of genomic data sharing. 26 'Public Responses to the Sharing and Linkage of Health Data for Research Purposes: A Systematic Review and Thematic Synthesis of Qualitative Studies' 18 found that there is widespread public support for health data sharing, but this support is conditional, depending on data confidentiality, the realization of public interest, informed consent mechanisms for data use, and trust and transparency in research organizations. 'Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?' 26 indicated that the global public's willingness to donate their DNA and health data for research is relatively low. ...
Objective
This study aims to conduct a bibliometric analysis of literature related to data governance and open sharing in the fields of life sciences and medicine, so as to clarify the characteristics of publications and explore research hotspots and trends.
Methods
A total of 2529 valid documents published in the Web of Science Core Collection database from 2000 to 2024 were included in this study. VOSviewer was used for co-occurrence analysis, while CiteSpace was employed for clustering, burst detection, and thematic evolution analysis.
Results
Between 2000 and 2024, the number of studies on data governance and open sharing in the fields of life sciences and medicine has increased annually, indicating the growing importance of research in this area. The USA led as the country with the most research output in this field. The University of Oxford was the institution with the highest publication volume, Amy L. McGuire was the most active author, and the Journal of Medical Internet Research and the Journal of the American Medical Informatics Association were the most frequent publication outlets. The most cited reference was ‘Comment: The FAIR Guiding Principles for Scientific Data Management and Stewardship’.
Conclusions
Topics such as the FAIR principles, ethical issues, public attitudes toward data sharing, data quality, databases, and big data analysis techniques are hotspots in this field. Potential research frontiers include the FAIR principles, data quality, public trust and attitudes toward data sharing, the application of artificial intelligence technology in data governance and sharing, governance and sharing of epidemiological and public health data, governance and sharing of data on chronic diseases such as diabetes, and the construction of data governance models.
... Given the fact that many trials incorporate public engagement and are commonly designed as community-based cluster trials, IPD sharing may improve public trust and support by enhancing transparent reporting and reproducibility and helping patients access their health data information and make informed health care decisions [4]. While public perception and willingness to share IPD are generally affected by concerns about privacy, transparency is a critical step toward getting buy-in from the public, particularly since environmental and public health policies may have implications on individual rights [4][5][6]. Specifically, addressing the ethical and regulatory issues surrounding the confidentiality of shared data is crucial for actual data sharing [7]. Nonetheless, enhancing transparency and providing detailed information about how data will be collected, used, and shared can effectively improve trust among individuals and facilitate actual data sharing. ...
Background
Data sharing plays a crucial role in health informatics, contributing to improving health information systems, enhancing operational efficiency, informing policy and decision-making, and advancing public health surveillance including disease tracking. Sharing individual participant data in public, environmental, and occupational health trials can help improve public trust and support by enhancing transparent reporting and reproducibility of research findings. The International Committee of Medical Journal Editors (ICMJE) requires all papers to include a data-sharing statement. However, it is unclear whether journals in the field of public, environmental, and occupational health adhere to this requirement.
Objective
This study aims to investigate whether public, environmental, and occupational health journals requested data-sharing statements from clinical trials submitted for publication.
Methods
In this bibliometric survey of “Public, Environmental, and Occupational Health” journals, defined by the Journal Citation Reports (as of June 2023), we included 202 journals with clinical trial reports published between 2019 and 2022. The primary outcome was a journal request for a data-sharing statement, as identified in the paper submission instructions. Multivariable logistic regression analysis was conducted to evaluate the relationship between journal characteristics and journal requests for data-sharing statements, with results presented as odds ratios (ORs) and corresponding 95% CIs. We also investigated whether the journals included a data-sharing statement in their published trial reports.
Results
Among the 202 public, environmental, and occupational health journals included, there were 68 (33.7%) journals that did not request data-sharing statements. Factors significantly associated with journal requests for data-sharing statements included open access status (OR 0.43, 95% CI 0.19-0.97), high journal impact factor (OR 2.31, 95% CI 1.15-4.78), endorsement of Consolidated Standards of Reporting Trials (OR 2.43, 95% CI 1.25-4.79), and publication in the United Kingdom (OR 7.18, 95% CI 2.61-23.4). Among the 134 journals requesting data-sharing statements, 26.9% (36/134) did not have statements in their published trial reports.
Conclusions
Over one-third of the public, environmental, and occupational health journals did not request data-sharing statements in clinical trial reports. Among those journals that requested data-sharing statements in their submission guidance pages, more than one quarter published trial reports with no data-sharing statements. These results revealed an inadequate practice of requesting data-sharing statements by public, environmental, and occupational health journals, requiring more effort at the journal level to implement ICJME recommendations on data-sharing statements.
... One of the most significant challenges to consider in designing PRS reports is the variation in literacy and numeracy levels within the target population. Public familiarity with genomic risk information is generally low [56][57][58]. Moreover, risk understanding and health outcomes are known to be associated with levels of numeracy, graph, health and genetic literacy [42,45,59,60]. ...
Background
Polygenic risk scores (PRS), which provide an individual probabilistic estimate of genetic susceptibility to develop a disease, have shown effective risk stratification for glaucoma onset. However, there is limited best practice evidence for reporting PRS and patient-friendly reports for communicating PRS effectively are lacking. Here we developed patient-centred PRS reports for glaucoma screening based on the literature, and evaluated them with participants using a qualitative research approach.
Methods
We first reviewed existing PRS reports and literature on probabilistic risk communication. This informed the development of a draft glaucoma screening PRS report for a hypothetical high risk individual from the general population. We designed three versions of the report to illustrate risk using a pictograph, a pie chart and a bell curve. We then conducted semi-structured interviews to assess preference of visual risk communication aids, understanding of risk, content, format and structure of the reports. Participants were invited from an existing study, which aims to evaluate the clinical validity of glaucoma PRS among individuals > 50 years from the general population. Numeracy and literacy levels were assessed.
Results
We interviewed 12 individuals. The cohort was highly educated (42% university education), all were European and 50% were female. Numeracy (mean 2.1 ± 0.9, range 0 to 3), graph literacy (mean 2.8 ± 0.8, range 0 to 4) and genetic literacy (mean 24.2 ± 6.2, range − 20 to + 46) showed a range of levels. We analysed the reports under three main themes: visual preferences, understanding risk and reports formatting. The visual component was deemed important to understanding risk, with the pictograph being the preferred visual risk representation, followed by the pie chart and the bell curve. Participants expressed preference for absolute risk in understanding risk, along with the written content explaining the results. The importance of follow-up recommendations and time to glaucoma onset were deemed important. Participants expressed varied opinions in the level of information and the colours used, which informed revisions of the report.
Conclusions
Our study revealed preferences for reporting PRS information in the context of glaucoma screening, to support the development of clinical PRS reporting. Further research is needed to assess PRS communication in other groups representative of target populations and with other target audiences (e.g. referring clinicians), and its potential psychosocial impact in the wider community.
... Several studies have reported a low willingness or likelihood to share data for the purposes of research or otherwise. This highlights the need for organisations to foster trust through transparency, governance, and robust technical infrastructure [25] [23] [26]. Familiarity with the data subject was identified as a significant factor influencing willingness to share, where a lack of familiarity leads to a hesitation to share [26]. ...
... This highlights the need for organisations to foster trust through transparency, governance, and robust technical infrastructure [25] [23] [26]. Familiarity with the data subject was identified as a significant factor influencing willingness to share, where a lack of familiarity leads to a hesitation to share [26]. The critical role of organisational transparency and engagement in encouraging data sharing was also noted [19]. ...
... Hospital admin staff reported the lowest levels of concern about data breaches (40%, Table 9) and second lowest levels of concern about sharing data (64% , Table 11), Interestingly, patient services staff and administrative staff are often the individuals within health organisations that responsible for handling private patient data within the framework of the Privacy Act in their roles daily and are highly familiar with requirements. This data point may be influenced by [26] research finding that the likelihood to share data is related to familiarity with the subject or field. It is also consistent with previous research by [51] that found respondents employed in more manual professions were more likely to be willing to share their data compared to respondents in professional roles. ...
The rise of big data has brought increased urgency to the importance of privacy-preserving data sharing in healthcare. In Australia, health records exist in various databases; however data sharing is limited. While many consumers and healthcare professionals recognise the advantages of sharing data for research and health care services, misgivings about privacy and security persist. This study examined current perspectives on data sharing, investigating the trust level in privacy preserving data sharing tools and techniques among healthcare professionals and organisations, and their openness to adopting technology for secure data sharing. We incorporated participants from various healthcare professions across Australia. We aimed to uncover prevalent attitudes toward data sharing in the healthcare sector by employing a mix of descriptive statistics and knowledge discovery methods. Findings revealed that despite significant concerns regarding data breaches and sharing, Australian healthcare professionals have a notable willingness to embrace technological solutions for safer data sharing. Interestingly, healthcare professionals’ motivations for data sharing differed from those observed in consumer-focused studies, with a stronger emphasis on enhancing patient outcomes rather than solely supporting research. This study offers valuable insights into formulating effective policies and strategies to foster privacy-preserving data sharing within the Australian healthcare system. We surveyed 82 healthcare professionals, including both clinical and non-clinical staff from the Australian Healthcare sector. The relevant data will be made available at https://researchoutput.csu.edu.au/en/datasets/hrea upon publication of this paper.
... It has been well established that commercial involvement in genomic health research reduces public willingness to share personal genomic data compared to when data will be used only by academic or not-for-profit medical researchers (5)(6)(7)(8)(9). This is due to a range of concerns, such as concerns about privacy; unethical use of genomic data; that users of data . ...
This study aimed to identify operating conditions and governance mechanisms that would help to facilitate trust in, and willingness to donate to, a hypothetical Australian national genomic repository for health research where commercial use of data is permitted. Semi-structured telephone interviews with members of the Australian public (N = 39) clarified perceived risks and preferred repository conditions. These insights were subsequently tested experimentally in a national sample (N = 1,117). Contrary to what was expected based on the interviews, when certain baseline operating conditions were included (e.g., public management, data access committee to ensure data is restricted to human health research), none of the additional tested governance mechanisms (e.g., financial penalties for misuse) increased trust or donation willingness. Thus, providing suitable baseline conditions are in place, a feasible Australian genomic repository may not require external oversight or new legislation to optimize recruitment, even if commercial users are anticipated.
... Many studies have also highlighted a pattern of greater awareness and familiarity with relevant scientific concepts to be a significant factor in predicting willingness to participate in research. Individuals with greater familiarity of genetic concepts are more willing to donate genomic data to research (32,33) and undergo genetic testing (34,35), while studies of biobanking participation have often found levels of awareness of biobanking activity to significantly influence willingness to donate to a biobank (36). This is concerning in light of the fact that a recent survey of people living with cancer in Ireland found that the majority declared "little or no knowledge" of genetic testing (37), while a 2010 EU-wide survey found Ireland had slightly lower awareness of biobanks (31%) compared to the EU average of 34 % (10). ...
... When asked about the involvement of a commercial entity in the donation process, we found that although the majority of our cohort would not allow this to influence their decision to donate a research sample, there was a sizable proportion for whom this would decrease their willingness. This mirrors other studies, where a negative influence of commercial involvement on donation willingness has previously been documented (32,33,42). A survey of men attending urology clinics in Ireland found that although 89% would agree with donating a sample for non-profit research, this was more than halved to 39% when questioned about for-profit research (43). ...
Although surveys of people living with cancer in other nations have generally found a high degree of willingness to donate to research services such as genomic databases and biobanks, these results can vary from country to country. Additional questions also remain surrounding issues such as preferred model of consent, reporting of findings and concerns surrounding potential commercial application of health data. To address some of these gaps in our current knowledge, we collected responses from 176 people living with and beyond cancer in Ireland over a 16-month period. Twenty-eight percent of our survey respondents had previously donated a biological sample to research, with the majority indicating that they did so for altruistic reasons. We found that the vast majority of those who had not previously donated samples would do so if given the opportunity, suggesting that there is a significant untapped pool of potential sample donors, and increased efforts by researchers and clinicians to recruit these individuals, in an ethically acceptable way, could yield a substantial improvement in the availability of biological samples and data for research. There was also a strong preference among respondents for total transparency with personal health data, with the vast majority wanting to know of any risk factors identified in their genome, even if these risks were not medically actionable. A strong level of trust in both the clinical and scientific community was also observed in the responses, with most indicating that this played a major role in influencing their decision to donate. Finally, we found that although most respondents did not have issues with the involvement of a commercial entity in the donation process, there was still a sizeable percentage (26%) who did have some reservations.
... Research, in turn, can sometimes seem overly technical or theoretical for the lay community. However, the success of an infrastructure initiative such as the HCA relies on building a common understanding between different stakeholders involved, including donors/research participants, communities, ethics committees, regulators, scientists, and funders 48 . In the context of the HCA, this meant, for instance, providing accessible explanation regarding the technology used (e.g., single-cell RNA sequencing, cellular profiling), but also, of concepts surrounding data sharing (open, controlled, etc.). ...
Striving to build an exhaustive guidebook of the types and properties of human cells, the Human Cell Atlas’ (HCA) success relies on the sampling of diverse populations, developmental stages, and tissue types. Its open science philosophy preconizes the rapid, seamless sharing of data – as openly as possible. In light of the scope and ambition of such an international initiative, the HCA Ethics Working Group (EWG) has been working to build a solid foundation to address the complexities of data collection and sharing as part of Atlas development. Indeed, a particular challenge of the HCA is the diversity of sampling scenarios (e.g., living participants, deceased donors, pediatric populations, culturally diverse backgrounds, tissues from various developmental stages, etc.), and associated ethical and legal norms, which vary across countries contributing to the effort. Hence, to the extent possible, the EWG set out to provide harmonised, international and interoperable policies and tools, to guide its research community. This paper provides a high-level overview of the types of challenges and approaches proposed by the EWG.
... However, the difference in our participants' views between MRI brain scans and genomic data suggest that for some, the type of data being analysed can affect the level of trust in AI use. This aligns with the findings of Middleton et al. [20], who found in their research on collection and storage of genomic data that some participants described genomic data as being 'special' or 'different' compared to other forms of medical data. Further research is needed to clarify how the type of medical data may affect patient attitudes to AI analysis. ...
... Similar to our findings with members of the public, the potential for AI to reduce bias and improve accuracy of diagnoses in healthcare is often cited as a benefit by physicians and patients [15,20,21]. However, there is an increasing body of research demonstrating how AI can inflate and perpetuate bias in medicine against already marginalised communities [11,12]. ...
... Accordingly, how genomic data is stored was a prominent concern amongst participants in our study; they discussed their desire to know how their data is being used and distrust of companies that may be profiting from their data, referencing several recent high-profile data breaches. These findings echo concerns from previous research on public perspectives of medical AI [17] and storage of genomic data [20,23,24]. However, it contrasts with another study which found data security to be a relatively minor concern when compared with the infancy of the technology and distrust in AI companies [19]. ...
Purpose
Next generation sequencing has led to the creation of large pools of genomic data with analysis rather than data generation now the limiting factor. Artificial intelligence (AI) may be required to optimize the benefits of these data, but little is known about how the public feels about the use of AI in genomics.
Methods
We conducted focus groups with members of the Australian public. Participants were recruited via social media advertisements. We explored potential uses of AI in genomic medicine, the benefits, risks, and the possible social implications of its use.
Results
Participants (n = 34) largely felt comfortable with AI analysing their own genomic data and generally agreed about its benefits. Concerns were raised over data security, the potential for misdiagnosis, and bias AI may perpetuate. Many participants wanted checking mechanisms for when results were generated using AI.
Conclusions
The insights gained from these discussions help to understand public concerns around the use of AI in genomic medicine. Our findings can help to inform both policies around genomic AI and how to educate the public on its use.
Graphical abstract
... Our study participants' acceptance of genetic testing, coupled with privacy concerns, emphasizes the need for comprehensive education that incorporates ethical and legal implications of genetic data sharing. Middleton et al. (2020) highlighted the role of trust in genomic data sharing, with individuals more likely to share data with medical professionals over for-profit entities. Similarly, our study underscores trust's importance in genetic data handling in clinical and research settings. ...
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education for physicians. Such training should address both fundamental concepts and ethical considerations to bridge existing knowledge gaps and improve early diagnostic capabilities. In Latin America, the level of genetic knowledge among healthcare workers, particularly medical students, remains largely unexplored. This study evaluates the knowledge and attitudes toward genetic testing among final-year medical students at a public university in Monterrey, Mexico. Using a cross-sectional, observational, and anonymous survey design, the International Genetic Literacy and Attitudes Survey version 3 (iGLAS3) was administered from October 1, 2019, to August 16, 2020. This online survey collected demographic information, assessed genetic knowledge, and gauged opinions on genetic topics, focusing on items most relevant to our research objectives. Statistical analyses provided descriptive statistics and measures of central tendency. Of the 323 surveys distributed, 201 participants completed essential sections, revealing a moderate to high level of genetic knowledge, with an average score of 70 ± 11.5. The demographic profile included 58.7% women, 40.3% men, and 0.5% non-binary individuals, with an average participant age of 24 years. A majority of participants expressed openness to genetic testing, primarily through private entities; however, significant concerns about the potential misuse of genetic data were noted. These findings underscore the necessity of enhancing genetic education and incorporating practical genetics training into medical curricula to meet the evolving challenges in this field effectively.
... To account for this variance and the dimensional aspects of schizophrenia, there have been tremendous efforts to gather genomic data and in-depth knowledge of neurobiological aspects of this disorder [12]. The entirety of the genetic information contained in an organism's DNA is referred to as genomic data [13][14][15]. This comprises details on gene structure, function, and variation in addition to the nucleotide sequence (adenine, thymine, cytosine, and guanine) found in the genome [16]. ...
Background: An increasing body of literature highlights the integration of machine learning with genomic data in psychiatry, particularly for complex mental health disorders such as schizophrenia. These advanced techniques offer promising potential for uncovering various facets of these disorders. A comprehensive review of the current applications of machine learning in conjunction with genomic data within this context can significantly enhance our understanding of the current state of research and its future directions.
