Evidence map›Paper›PMID 40844583›Full record

ArticleJournal of community genetics2025

What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea.

Su-A Lee, Sholhui Park, Min-Kyung So, Hae-Sun Chung, Hae Soon Kim, Arang Kim, Jungwon Huh

Abstract read
In one paragraph

Article in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Su-A LeeDepartment of Genetic Counseling, Graduate School, Ewha Womans University College of Medicine, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.ORCID http://orcid.org/0009-0006-9377-2465
Sholhui ParkDepartment of Laboratory Medicine, College of Medicine, Ewha Womans University, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0002-6467-427X
Min-Kyung SoDepartment of Laboratory Medicine, College of Medicine, Ewha Womans University, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0001-9728-3008
Hae-Sun ChungDepartment of Laboratory Medicine, College of Medicine, Ewha Womans University, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0001-6382-4099
Hae Soon KimDepartment of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0002-6976-6878
Arang KimDepartment of Genetic Counseling, Graduate School, Ewha Womans University College of Medicine, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea. arangkim@mednet.ucla.edu.ORCID http://orcid.org/0000-0002-1494-3697
Jungwon HuhDepartment of Genetic Counseling, Graduate School, Ewha Womans University College of Medicine, (07985) 1071, Anyangcheon-ro, Yangcheon-gu, Seoul, Republic of Korea. jungwonh@ewha.ac.kr.ORCID http://orcid.org/0000-0001-8758-9847

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic counseling is essential for patients and families with genetic disorders, providing accurate information and supporting informed decisions. However, limited access to counseling services in some countries can lead to confusion and anxiety, prompting many to seek information in online communities. This study analyzes user-generated questions from an online community in South Korea to understand the specific information needs of patients and families with genetic disorders.

methodsThis study analyzed 289 questions posted by 122 members on the Naver cafe < All About Genetic Disorders>( https://cafe.naver.com/geneticdx ) between November 27, 2022, and December 23, 2023. Quantitative analysis was performed to identify the types and frequencies of questions, while qualitative analysis examined detailed content.

resultsThe most frequently requested information was about disease information (28.4%), followed by genetics knowledge (26.6%), genetic testing (26.3%), and other topics (18.7%). Qualitative analysis revealed that patients and families needed detailed information about long-term progression and symptom manifestation. Many expressed confusion and anxiety regarding the meaning of variants of uncertain significance (VUS) in genetic testing results. They sought real-life patient experiences, in-depth professional informations, and wanted to know how to efficiently find accurate information.

conclusionThis study demonstrated the importance of providing patients and families with professional and easily understandable information, highlighting the necessity for a well-organized genetic counseling system. To support patients and their families, it is essential to develop patient-friendly online platforms and expand access to genetic counseling services.

Indexed as

Genetic counselingGenetic disorderInformationOnline communityPatient group

Identifiers

PMID40844583
PMCPMC12569309

What Socratic holds

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Registered trials

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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 Socratic graph.