ArticleJMIR research protocols2014
Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011.
Article in JMIR research protocols, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Online education for rare genetic diseases: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Web Use for Symptom Appraisal of Physical Health Conditions: A Systematic Review.Journal of medical Internet research · 2017Pooled it
- "We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.Frontiers in public health · 2026Article
- What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea.Journal of community genetics · 2025Article
- Tracking Public Interest in Rare Diseases and Eosinophilic Disorders in Germany: Web Search Analysis.JMIR infodemiology · 2025Article
- Identifying sarcoidosis trends using web search and real-world data in Sweden: a retrospective longitudinal study.Scientific reports · 2024Article
- Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats.Orphanet journal of rare diseases · 2022Article
- Leveraging internet search data to assess prevalence, interest, and unmet needs of sarcoidosis in Germany.Scientific reports · 2021Article
- Validating online approaches for rare disease research using latent class mixture modeling.Orphanet journal of rare diseases · 2021Article
- Integrating patient perspectives in medical decision-making: a qualitative interview study examining potentials within the rare disease information exchange process in practice.BMC medical informatics and decision making · 2019Article
- Internet Versus Virtual Reality Settings for Genomics Information Provision.Cyberpsychology, behavior and social networking · 2019Article
- Accuracy and Readability of Websites on Kidney and Bladder Cancers.Journal of cancer education : the official journal of the American Association for Cancer Education · 2018Article
- Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany.BMC health services research · 2018Article
- Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.Frontiers in genetics · 2018Article
- Shaping an Effective Health Information Website on Rare Diseases Using a Group Decision-Making Tool: Inclusion of the Perspectives of Patients, Their Family Members, and Physicians.Interactive journal of medical research · 2017Article
- Marking 15 years of the Genetic and Rare Diseases Information Center.Translational science of rare diseases · 2017Article
- Inflammatory bowel disease: An evaluation of health information on the internet.World journal of gastroenterology · 2017Article
- The Use of Social Media to Recruit Participants With Rare Conditions: Lynch Syndrome as an Example.JMIR research protocols · 2017Article
- Rare Diseases on the Internet: An Assessment of the Quality of Online Information.Journal of medical Internet research · 2017Article
- The Human Phenotype Ontology in 2017.Nucleic acids research · 2017Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundThe Genetic and Rare Disease Information Center (GARD) is a major provider of Web-based information on genetic and rare diseases. Little is known about the type of Web-based information individuals seek about genetic and rare diseases or their reasons for seeking.
objectiveThe objective of this paper is to describe the types of Web-based information sought about genetic and rare diseases and the reasons for seeking it from GARD by examining inquiries from 2006 and 2011.
methodsThere were 278 English-language email and Web-based inquiries posed to GARD by lay individuals (ie, patients, parents, and relatives), which were randomly selected from inquiries in 2006 (n=68) and 2011 (n=210) and examined using content analysis.
resultsMost often in both years, individuals sought basic disease information (51/68, 75.0% and 132/210, 62.8%; P=.067) and information about treatment (17/51, 33.3% and 62/132, 47.0%; P=.095). Specifically, inquirers requested information about their disease prognosis (6/51, 11.8% and 23/132, 17.4%; P=.347) and made requests for specialists (8/68, 11.8% and 31/210, 14.8%; P=.536). In both 2006 and 2011, a substantial subset of inquirers requested information related to undiagnosed symptoms, representing 16.2% (11/68) and 11.9% (25/210; P=.362) of inquiries, respectively. Inquirers were significantly more likely to have seen a health care provider before contacting GARD (99/210, 47.1% vs 20/68, 29.4%; P=.010) and to ask about clinical research studies in 2011 than in 2006 (24/210, 11.4% vs 2/68, 2.9%; P=.037). In the 2011 data set, the majority of the inquirers were women (201/210, 95.7%). In our 2006 sample, men were the majority source of inquiries (54/68, 79.4%).
conclusionsFindings from this study indicate that lay people contacting a genetic and rare disease information center most often seek information about disease prognosis, finding a specialist, and obtaining a diagnosis for symptoms. Unique characteristics of individuals searching the Internet for genetic and rare diseases information, includes a growing interest in participating in clinical research studies and a desire to supplement or better understand information discussed during a visit with a health care provider. These efforts represent advancements in patient self-advocacy.
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