ArticleJournal of personalized medicine2022
Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.
Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04733274 (Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing), which is not on this map. Cited by 9 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.
Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing
Who cites it
9 citing papers in PubMed.
- Stigma in differences of sex development: a scoping review.Journal of pediatric psychology · 2025Article
- Addressing family communication in genetic counseling: A scoping review of process studies.Journal of genetic counseling · 2025Article
- Nursing's Role in Advancing Care for Rare Genetic Diseases.The Nursing clinics of North America · 2025Review
- Article
- Rare disease narratives on social media: A content analysis.Genetics in medicine open · 2025Article
- Short Communication: Lived experience perspectives on genetic testing for a rare eye disease.Journal of community genetics · 2024Article
- Establishing cost-effectiveness threshold in China: a community survey of willingness to pay for a healthylife year.BMJ global health · 2024Article
- Stigma associated with genetic testing for rare diseases-causes and recommendations.Frontiers in genetics · 2024Review
- Special Issue: "Genetic Counseling and Genetic Testing in Precision Medicine".Journal of personalized medicine · 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
4 authors.
Funding
Abstract
Most rare diseases are genetic in etiology and characterized by a 'diagnostic odyssey'. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH).
methodsWe conducted six focus groups with patients with CHH (
resultsMajor themes relating to pre-test experiences were 'attitudes & beliefs' (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and 'information and support,' which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included 'return of results,' revealing frustration with the lack of return of results and limited emotional support, and 'family communication,' describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and post-test experiences.
conclusionsPatients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases.
Indexed as
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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.