ReviewFrontiers in genetics2021
Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.
Review in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Establishing meaningful score differences for the observer-reported communication ability (ORCA) measure using the scale judgment approach with caregivers of individuals with Angelman syndrome.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.Orphanet journal of rare diseases · 2026Article
- Ethically Integrating Genomics in Primary Care: An Invitation to Share Implementation Best Practices.Mayo Clinic proceedings · 2026Article
- Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey.Journal of community genetics · 2025Article
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.Clinical and translational medicine · 2025Article
- Nursing's Role in Advancing Care for Rare Genetic Diseases.The Nursing clinics of North America · 2025Review
- Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.BMC bioinformatics · 2025Article
- The Importance of Genetic Diagnosis in Rare Diseases.Balkan medical journal · 2025Article
- Policy Challenges in Ultra-Rare Cancers: Ethical, Social, and Legal Implications of Melanoma Prevention and Diagnosis in Children, Adolescents, and Young Adults.Healthcare (Basel, Switzerland) · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.Orphanet journal of rare diseases · 2024Article
- Rare genetic disorders in India: Current status, challenges, and CRISPR-based therapy.Journal of biosciences · 2024Review
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens.Journal of personalized medicine · 2023Article
- The economic impact of living with a rare disease for children and their families: a scoping review protocol.HRB open research · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing is associated with many ethical challenges on the individual, organizational and macro level of health care systems. The provision of genetic testing for rare diseases in particular requires a full understanding of the complexity and multiplicity of related ethical aspects. This systematic review presents a detailed overview of ethical aspects relevant to genetic testing for rare diseases as discussed in the literature. The electronic databases Pubmed, Science Direct and Web of Science were searched, resulting in 55 relevant publications. From the latter, a total of 93 different ethical aspects were identified. These ethical aspects were structured into three main categories (process of testing, consequences of the test outcome and contextual challenges) and 20 subcategories highlighting the diversity and complexity of ethical aspects relevant to genetic testing for rare diseases. This review can serve as a starting point for the further in-depth investigation of particular ethical issues, the education of healthcare professionals regarding this matter and for informing international policy development on genetic testing for 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.