ReviewFrontiers in genetics2024
Stigma associated with genetic testing for rare diseases-causes and recommendations.
Review in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 18 citations in OpenAlex.
- Awareness, Attitudes, and Expectations of Indian Cancer Patients and Their Caregivers on Hereditary Cancers and Genetic Testing at a Tertiary Cancer Centre in India.Journal of genetic counseling · 2026Article
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Carrier screening and genetic counseling in high-consanguinity populations: a narrative review.Journal of community genetics · 2026Review
- High awareness, moderate knowledge, and prevention-oriented practices regarding β-thalassemia among young adults in Palestine: a cross-sectional study.BMC public health · 2026Article
- Workplace and Healthcare Stigma in Hereditary Angioedema: Links to Anxiety and Functional Impairment.Healthcare (Basel, Switzerland) · 2026Article
- Living with Legacy: Outcomes and Future Implications for Offspring of Patients with MEN1.Journal of the ASEAN Federation of Endocrine Societies · 2026Review
- Social support and maternal caregiving burden in families of children with Angelman syndrome in China: the mediating role of self-stigma.BMC psychology · 2026Article
- Addressing genetic discrimination and its stigmatizing effects through human rights.Journal of community genetics · 2026Article
- Ethical and clinical challenges in managing low-penetrance CNVs: insights from Portuguese clinical geneticists.Frontiers in genetics · 2026Article
- Autism Spectrum Disorder in the Genomic Era: A Comprehensive Review of Etiology, Precision Diagnostics, Clinical Outcomes, and Emerging Gene-Editing Therapies.Neuropsychiatric disease and treatment · 2026Review
- Stigmatisation experiences in families with hereditary conditions: an exploratory study.Journal of community genetics · 2025Article
- Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study.Journal of community genetics · 2025Article
- Nursing's Role in Advancing Care for Rare Genetic Diseases.The Nursing clinics of North America · 2025Review
- Biomarker-Driven Approaches to Bone Metastases: From Molecular Mechanisms to Clinical Applications.Biomedicines · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.Nature genetics · 2024Article
- Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.Pharmaceutical medicine · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare system, and societies at large. The possibility of inheriting a genetic disease has a substantial social and psychological impact on affected families. In addition to other concerns, PLWRDs and their families may feel stigmatized, experience guilt, feel blamed, and stress about passing the disease to future generations. Stigma can affect all stages of the journey of PLWRDs and their families, from pre-diagnosis to treatment access, care and support, and compliance. It adversely impacts the quality of life of RD patients. To better explore the impact of stigma associated with genetic testing for RDs, we conducted a literature search on PubMed and Embase databases to identify articles published on stigma and RDs from January 2013 to February 2023. There is a dearth of literature investigating the dynamics of stigma and RD genetic testing. The authors observed that the research into the implications of stigma for patient outcomes in low- and middle-income countries (LMICs) and potential interventions is limited. Herein, the authors present a review of published literature on stigma with a focus on RD genetic testing, the associated challenges, and possible ways to address these.
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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.