ArticleEuropean journal of human genetics : EJHG2016
'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 100 citations in OpenAlex.
- A systematic literature review of the 'commercialisation effect' on public attitudes towards biobank and genomic data repositories.Public understanding of science (Bristol, England) · 2024Pooled it
- Citizens' Attitudes, Knowledge, and Educational Needs in the Field of Omics Sciences: A Systematic Literature Review.Frontiers in genetics · 2020Pooled it
- Feasibility, comprehension and applicability of broad consent in the emergency department: an exploratory mixed-methods study.Journal of medical ethics · 2026Article
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- Towards a trusted genomics repository: Identifying commercialisation fears and preferred forms of governance across segments of the community.Public understanding of science (Bristol, England) · 2025Article
- Analysis of public perceptions on the use of artificial intelligence in genomic medicine.Human genomics · 2024Article
- Common conditions of use elements. Atomic concepts for consistent and effective information governance.Scientific data · 2024Article
- Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations.European journal of human genetics : EJHG · 2024Article
- Commercialisation fears and preferred forms of governance: a mixed methods investigation to identify a trusted Australian genomics repository.Frontiers in public health · 2024Article
- The creation of an adaptable informed consent form for research purposes to overcome national and institutional bottlenecks in ethics review: experience from rare disease registries.Frontiers in medicine · 2024Article
- Article
- A one-size-fits-all approach to data-sharing will not suffice in lifecourse research: a grounded theory study of data-sharing from the perspective of participants in a 50-year-old lifecourse study about health and development.BMC medical research methodology · 2023Article
- Patients' and Members of the Public's Wishes Regarding Transparency in the Context of Secondary Use of Health Data: Scoping Review.Journal of medical Internet research · 2023Article
- Patient perspectives on data sharing regarding implementing and using artificial intelligence in general practice - a qualitative study.BMC health services research · 2023Article
- Adoptees' views and experiences of direct-to-consumer (DTC) genomic testing: an exploratory interview study from the UK.Journal of community genetics · 2023Article
- Context matters in genomic data sharing: a qualitative investigation into responses from the Australian public.BMC medical genomics · 2023Article
- Donor and non-donor perspectives on receiving information from routine genomic testing of donor blood.Transfusion · 2023Article
- Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.Frontiers in public health · 2023Article
- Do genomic passports leave us more vulnerable or less vulnerable? Perspectives from an online citizen engagement.Humanities & social sciences communications · 2023Article
- 'Advocacy groups are the connectors': Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics.Health expectations : an international journal of public participation in health care and health policy · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
Abstract
Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.