ArticleEuropean journal of human genetics : EJHG2020
Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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
14 citing papers in PubMed, 26 citations in OpenAlex.
- Ethical Priorities Among Commercial Genomics Professionals : Survey Evidence Highlighting Diversity, Fragmented Privacy Law, and Human Rights Risks as Central Participant Concerns.Journal of bioethical inquiry · 2026Article
- Precision Medicine Bioethics and AI Ethics: The Case of Rare Diseases.Advances in experimental medicine and biology · 2026Review
- Perspectives of Research Ethics Committees on the Challenges of Human Genomic Research Participation in Ethiopia.Journal of empirical research on human research ethics : JERHRE · 2025Article
- Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.Orphanet journal of rare diseases · 2025Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Developing a community-led rare disease ELSI research agenda.Orphanet journal of rare diseases · 2024Review
- General public's understanding of rare diseases and their opinions on medical resource allocation in Japan: a cross-sectional study.Orphanet journal of rare diseases · 2023Article
- The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023Article
- Ethical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review.European journal of human genetics : EJHG · 2022Article
- Three decades of ethical, legal, and social implications research: Looking back to chart a path forward.Cell genomics · 2022Article
- So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.Italian journal of pediatrics · 2022Article
- Increasing Genomic Literacy Through National Genomic Projects.Frontiers in genetics · 2021Review
- European expert network on rare communicable diseases and other rare diseases linked to mobility and globalisation focused on health care provision (EURaDMoG): a feasibility study.Orphanet journal of rare diseases · 2020Review
- Driving innovation for rare skin cancers: utilizing common tumours and machine learning to predict immune checkpoint inhibitor response.Immuno-oncology technology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent interest in personalized medicine has highlighted the importance of research in ethical, legal, and social issues (ELSI). Issues in ELSI research may be magnified in the rare diseases population (i.e., small numbers of affected individuals, challenges in maintaining confidentiality, and paucity of treatments for diseases where natural history information may be limited). More than other areas of research, potential barriers include the lack of funding opportunities and appropriate review processes for applications to funding agencies. The ELSI Working Group of the International Rare Diseases Research Consortium (IRDiRC) performed an informal survey on ELSI funding initiatives to learn more about different funding mechanisms and to identify potential gaps in funding opportunities. The Working Group discusses these challenges and highlights the role of funding agencies and partners such as patient advocacy groups, specialists in social sciences and humanities, and clinicians to advance ELSI research in rare diseases.
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.