ArticleWorld medical & health policy2021
Access to genetic testing for rare diseases: Existing gaps in public-facing information.
Article in World medical & health policy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- The Importance of Genetic Diagnosis in Rare Diseases.Balkan medical journal · 2025Article
- Short Communication: Lived experience perspectives on genetic testing for a rare eye disease.Journal of community genetics · 2024Article
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Physicians' use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study.Orphanet journal of rare diseases · 2023Article
- Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.PLOS global public health · 2023Article
- Clinical outcomes and visual prognostic factors in congenital aniridia.BMC ophthalmology · 2022Article
- Access to genetic testing for rare diseases: Existing gaps in public-facing information.World medical & health policy · 2021Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing plays an increasingly important role in the diagnosis and potential treatment of inherited and rare conditions, such as aniridia-a disease that leads to abnormal eye development, as well as in health research on these conditions. As genetic testing is increasingly sought for accurate and early diagnosis of rare genetic disorders and in the context of direct-to-consumer genomics, it is critical to examine the public-facing information about access to these services and reimbursement policies. We conducted a targeted policy and public-facing resource search. Our analysis of resources available for the patient community revealed that there is very little practical guidance available about access and reimbursement for genetic testing for rare diseases. Greater clarity in public-facing resources about genetic testing would be beneficial to the patient community as it would promote informed choices about the procedure, mitigate potential harms associated with lack of information and enable patient engagement in their own health care.
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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.