SynthesisEuropean journal of human genetics : EJHG2022
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.
Synthesis in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 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
39 citing papers in PubMed, 3 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Advancing equity and value in United States healthcare: an umbrella review.International journal for equity in health · 2026Pooled it
- The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review.Applied health economics and health policy · 2025Pooled it
- Building capacity for genomics in primary care: a scoping review of practitioner attitudes, education needs, and enablers.Frontiers in medicine · 2025Pooled it
- Bridging Technology and Pretest Genetic Services: Quantitative Study of Chatbot Interaction Patterns, User Characteristics, and Genetic Testing Decisions.Journal of medical Internet research · 2025Trial
- Kit-based remote collection and isolation of human reprogrammable somatic cells for generation of induced pluripotent stem cells and cerebral organoids.Nature protocols · 2026Review
- From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome.CJC open · 2026Article
- Trends and Disparities in Mortality from Hereditary Ataxia in United States, 2000-2020: A Retrospective Analysis with Projections to 2050.Cerebellum (London, England) · 2026Observational
- Barriers to access to health services for people with orphan-rare diseases in Huila, ColombiaBiomedica : revista del Instituto Nacional de Salud · 2026Article
- Article
- Fine-scale structure of a whole regional population through genetics and genealogies.Nature communications · 2026Article
- Ethically Integrating Genomics in Primary Care: An Invitation to Share Implementation Best Practices.Mayo Clinic proceedings · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders.Pediatric research · 2025Review
- Trends in Bicuspid Aortic Valve-Attributable Death in the United States From 2010 to 2020.Journal of the American Heart Association · 2025Article
- BRCA genetic testing utilization and expenditures among privately insured adults in the United States, 2013 to 2022.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- "It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.European journal of human genetics : EJHG · 2025Article
- Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.Pediatric nephrology (Berlin, Germany) · 2025Review
- Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.Orphanet journal of rare diseases · 2025Article
- Nursing's Role in Advancing Care for Rare Genetic Diseases.The Nursing clinics of North America · 2025Review
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
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 at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Place plays a significant role in our health. As genetic/genomic services evolve and are increasingly seen as mainstream, especially within the field of rare disease, it is important to ensure that where one lives does not impede access to genetic/genomic services. Our aim was to identify barriers and enablers of geographical equity in accessing clinical genomic or genetic services. We undertook a systematic review searching for articles relating to geographical access to genetic/genomic services for rare disease. Searching the databases Medline, EMBASE and PubMed returned 1803 papers. Screening led to the inclusion of 20 articles for data extraction. Using inductive thematic analysis, we identified four themes (i) Current service model design, (ii) Logistical issues facing clinicians and communities, (iii) Workforce capacity and capability and iv) Rural culture and consumer beliefs. Several themes were common to both rural and urban communities. However, many themes were exacerbated for rural populations due to a lack of clinician access to/relationships with genetic specialist staff, the need to provide more generalist services and a lack of genetic/genomic knowledge and skill. Additional barriers included long standing systemic service designs that are not fit for purpose due to historically ad hoc approaches to delivery of care. There were calls for needs assessments to clarify community needs. Enablers of geographically equitable care included the uptake of new innovative models of care and a call to raise both community and clinician knowledge and awareness to demystify the clinical offer from genetics/genomics services.
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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.