• Delphi method
• chromosome 6 disorders
• information needs
• interactive website
• patient participation
• rare genetic disorders

• 113312101 ZonMw
• Universitair Medisch Centrum Groningen
• 917.164.455 Dutch Research Council (NWO)
• Crowdfunding

• Incidence
• Infodemiology
• Real-world data
• Sarcoidosis
• Web search

• Humans
• Sweden/epidemiology
• Sarcoidosis/epidemiology
• Male
• Female
• Retrospective Studies
• Incidence
• Longitudinal Studies
• Seasons
• Internet
• Search Engine
• Middle Aged
• Adult
• Aged

• Technische Universität München (1025)

Sarcoidosis is a multisystemic disease of connective tissue with granuloma formation of unknown etiology and unclear prevalence. Internet search data has been shown to correlate with disease incidences and the population’s interest as well as seasonal variations. Accordingly, aim of this study was to leverage internet search data on sarcoidosis-related keywords to identify unmet needs, geographical and seasonal factors influencing sarcoidosis and estimating its prevalence. In this retrospective longitudinal study, Google Ads Keyword Planner was used to determine the internet search volume of terms related to sarcoidosis across Germany as a whole and in 17 major German cities between July 2015 and June 2019. Identified keywords were qualitatively categorized, converted into number of searches per 100,000 inhabitants and analyzed including regional and seasonal differences. With 3,068,200 queries and 425 different sarcoidosis-related search terms in the studied time period, the search volume was very high for a rare disease. Most searches (67.9%) related to general disease information with “sarcoidosis”, "Löfgren's syndrome", "sarcoidosis lung", "Morbus Boeck" and "neurosarcoidosis" as the top five keywords. Searches per 100,000 inhabitants were comparable in all 17 cities but higher than in Germany as a whole. Overall, the search volume increased from 2015 to 2019 and peaked annually in European springtime with annual lows in European autumn and winter months. The overall high search volume suggests an unmet need for sarcoidosis-related information and a diagnostic gap. Seasonal fluctuations indicate environmental as well as climatic factors that may influence sarcoidosis.

Rare disease patients are geographically dispersed, posing challenges to research. Some researchers have partnered with patient organizations and used web-based approaches to overcome geographic recruitment barriers. Critics of such methods claim that samples are homogenous and do not represent the broader patient population—as patients recruited from patient organizations are thought to have high levels of needs. We applied latent class mixture modeling (LCMM) to define patient clusters based on underlying characteristics. We used previously collected data from a cohort of patients with congenital hypogonadotropic hypogonadism who were recruited online in collaboration with a patient organization. Patient demographics, clinical information, Revised Illness Perception Questionnaire (IPQ-R) scores and Zung self-rating depression Scale (SDS) were used as variables for LCMM analysis. Specifically, we aimed to test the classic critique that patients recruited online in collaboration with a patient organization are a homogenous group with high needs. We hypothesized that distinct classes (clinical profiles) of patients could be identified—thereby demonstrating the validity of online recruitment and supporting transferability of findings.

In total, 154 patients with CHH were included. The LCMM analysis identified three distinct subgroups (Class I: n = 84 [54.5%], Class II: n = 41 [26.6%], Class III: n = 29 [18.8%]) that differed significantly in terms of age, education, disease consequences, emotional consequences, illness coherence and depression symptoms (all p < 0.001) as well as age at diagnosis (p = 0.045). Classes depict a continuum of psychosocial impact ranging from severe to relatively modest. Additional analyses revealed later diagnosis (Class I: 19.2 ± 6.7 years [95% CI 17.8–20.7]) is significantly associated with worse psychological adaptation and coping as assessed by disease consequences, emotional responses, making sense of one’s illness and SDS depressive symptoms (all p < 0.001).

We identify three distinct classes of patients who were recruited online in collaboration with a patient organization. Findings refute prior critiques of patient partnership and web-based recruitment for rare disease research. This is the first empirical data suggesting negative psychosocial sequelae of later diagnosis (“diagnostic odyssey”) often observed in CHH.

• Community based participatory research
• Diagnostic odyssey
• Hypogonadotropic hypogonadism
• Kallmann syndrome
• Patient organization
• Rare disease

• coping strategies
• dysphagia
• impaired mobility
• neuromuscular disease
• qualitative study

• Expert patient
• Patient centered care
• Patient preferences
• Qualitative research
• Rare diseases
• Shared decision-making

• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Attitude of Health Personnel
• Clinical Decision-Making
• Decision Making, Shared
• Family/psychology
• Female
• Germany
• Health Information Exchange
• Humans
• Male
• Middle Aged
• Patient Participation
• Physician-Patient Relations
• Qualitative Research
• Rare Diseases
• Young Adult

To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases.

Retrospective study from 1996–2017 analyzing data from an academic referral center specializing in autosomal dominant tubulo-interstitial kidney disease (ADTKD). Individuals were referred by academic health care providers (HCPs) non-academic HCPs, or directly by patients/families.

Over 21 years, there were 665 referrals, with 176(27%) directly from families, 269(40%) from academic HCPs, and 220(33%) from non-academic HCPs. 42(24%) of direct family referrals had positive genetic testing vs 73(27%) of families from academic HCPs and 55(25%) from non-academic HCPs (P=.72). 99% of direct family contacts were white and resided in zip code locations with a mean median income of $77,316±34,014 vs. US median income $49,445.

Undiagnosed families with Internet access bypassed their physicians and established direct contact with an academic center specializing in inherited kidney disease to achieve a diagnosis. Twenty-five per cent of all families diagnosed with ADTKD were the result of direct family referral and would otherwise have been un-diagnosed. If patients suspect a rare disorder that is un-diagnosed by their physicians, actively pursuing self-diagnosis using the Internet can be successful. Centers interested in rare disorders should consider improving direct access to families.

• autosomal dominant tubulointerstitial kidney disease
• internet
• mucin-1
• rare disease
• uromodulin

• communication
• information needs
• information seeking behaviour
• interviews
• research, qualitative

• Bladder cancer
• Kidney cancer
• Online resources
• Patients’ education
• The Internet

• Consumer Health Information/standards
• Data Accuracy
• Health Knowledge, Attitudes, Practice
• Health Literacy
• Humans
• Information Dissemination/methods
• Internet/standards
• Kidney Neoplasms/prevention & control
• Patient Education as Topic/standards
• Urinary Bladder Neoplasms/prevention & control

• e-health
• genetics
• genomics
• health communication
• virtual reality

• clinical genomics
• genomic data sharing
• genomic data transfer
• interoperability
• laboratory workflows
• whole exome sequencing

• Health information
• Health-seeking behaviour
• Helpline
• Rare diseases
• Telemedicine

• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Counseling/methods
• Female
• Germany
• Health Personnel/psychology
• Health Services Needs and Demand
• Humans
• Interviews as Topic
• Male
• Middle Aged
• Patient Education as Topic/methods
• Personal Satisfaction
• Qualitative Research
• Quality of Life
• Rare Diseases
• Telephone
• Young Adult

• IIA5-2513FSB801 Bundesministerium für Gesundheit

• decision making
• health information needs
• patients
• physicians
• preferences
• rare diseases
• relatives

The Web has become an important information source for appraising symptoms. We need to understand the role it currently plays in help seeking and symptom evaluation to leverage its potential to support health care delivery.

The aim was to systematically review the literature currently available on Web use for symptom appraisal.

We searched PubMed, EMBASE, PsycINFO, ACM Digital Library, SCOPUS, and Web of Science for any empirical studies that addressed the use of the Web by lay people to evaluate symptoms for physical conditions. Articles were excluded if they did not meet minimum quality criteria. Study findings were synthesized using a thematic approach.

A total of 32 studies were included. Study designs included cross-sectional surveys, qualitative studies, experimental studies, and studies involving website/search engine usage data. Approximately 35% of adults engage in Web use for symptom appraisal, but this proportion varies between 23% and 75% depending on sociodemographic and disease-related factors. Most searches were symptom-based rather than condition-based. Users viewed only the top search results and interacted more with results that mentioned serious conditions. Web use for symptom appraisal appears to impact on the decision to present to health services, communication with health professionals, and anxiety.

Web use for symptom appraisal has the potential to influence the timing of help seeking for symptoms and the communication between patients and health care professionals during consultations. However, studies lack suitable comparison groups as well as follow-up of participants over time to determine whether Web use results in health care utilization and diagnosis. Future research should involve longitudinal follow-up so that we can weigh the benefits of Web use for symptom appraisal (eg, reductions in delays to diagnosis) against the disadvantages (eg, unnecessary anxiety and health care use) and relate these to health care costs.

• Internet
• Online health information
• Web search
• health information seeking
• search strategies
• symptom appraisal

The Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences, was established in 2002 to assist the public in finding reliable, timely, and easy-to-understand information about genetic and/or rare diseases in English or Spanish.

A review of longitudinal data on GARD inquiries from 2002 to 2016 and assessment of the results of two user satisfaction surveys were conducted to understand the demographics and needs of GARD customers over time.

Since 2002, GARD has collected anonymized data while responding to questions received via e-mail, website, telephone, fax, letter, or TTY. Between 2002 and 2016 GARD received a total of 60,106 inquiries. User satisfaction surveys were conducted in 2006 and 2014, in which users self-selected to participate.

The annual number of inquiries has risen steadily since 2002. Inquiries are overwhelmingly from educated female patients, family, and friends seeking disease-specific information, treatment options, referrals, and research studies. Most users report satisfaction with the experience.

Rare disease patients and their families face challenges in finding information about their symptoms or diagnosis, prognosis, treatment options, significance for family members, and research opportunities. Lack of available clinical expertise can leave patients, their family, and friends with little choice but to become knowledgeable on their own. GARD fills a critical need by providing the public with vetted, evidence-based information that empowers people to engage in their own health care and seek research studies of relevance.

• Genetic and Rare Diseases Information Center
• Health information search behavior
• National Center for Advancing Translational Sciences
• online information
• research participation

• Internet
• consumer
• healthcare
• integrative review
• online source

To evaluate the quality and accuracy of websites written to the public on inflammatory bowel disease (IBD) (Crohn's disease and ulcerative colitis) and assess their readability level.

Google™, Bing™, and Yahoo™ search engines were searched independently by three researchers in December 2014. Only English-language websites were selected on the basis of predetermined inclusion and exclusion criteria. Researchers independently evaluated the quality of each website by using the DISCERN and the HONcode instruments. The readability levels were calculated using two formulas; the Flesch-Kincaid Grade Level Index, and the Coleman-Liau Readability Index. The agreement between the evaluators was calculated using Cohen kappa coefficient.

Eighty-four websites were finally identified. Scores varied from a minimum DISCERN score of 18 to a maximum of 68 [mean ± SD, 42.2 ± 10.7; median = 41.5, interquartile range, interquartile range (IQR) = 15.8] and a minimum score of HONcode of 0.14 and a maximum of 0.95 (mean ± SD, 0.16 ± 0.19; median = 0.45, IQR = 0.29). Most of these websites were reviewed in 2014 and 2015 (n = 51). The creators of these websites were: universities and research centers (n = 25, 30%), foundations and associations (n = 15, 18%), commercial and pharmaceutical companies (n = 25, 30%), charities and volunteer work (n = 9, 10%), and non-university educational bodies (n = 10, 12%). The Flesch-Kincaid Grade Level readability score (mean ± SD) was 11.9 ± 2.4 and the Coleman-Liau Readability Index score was 12.6 ± 1.5. Significant correlation was found between the two readability scores (R² = 0.509, P = 0.001). The overall agreement between evaluators measured by Cohen kappa coefficient was in the range of 0.804-0.876; rated as "Good".

The DISCERN and the HONcode scores of websites varied and the readability levels of most websites were above the public readability level. The study highlights the areas that need further improvement and development in patient education online materials about IBD.

• Inflammatory bowel disease
• The internet
• Patients' information
• Evidence
• Patients' education
• online resources

• Access to Information
• Comprehension
• Data Accuracy
• Evidence-Based Medicine
• Humans
• Inflammation
• Inflammatory Bowel Diseases/diagnosis
• Inflammatory Bowel Diseases/therapy
• Information Dissemination/methods
• Internet
• Patient Education as Topic

• Lynch syndrome
• data collection
• participation rates
• response rates
• social media recruitment

• health information exchange
• health literacy
• quality indicators
• rare disesases

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

Precision medicine focuses on understanding individual variability in disease prevention, care, and treatment. The Precision Medicine Initiative, launched by President Obama in early 2015, aims to bring this approach to all areas of health care. However, few consumer-friendly resources exist for the public to learn about precision medicine and the conditions that could be affected by this approach to care. Genetics Home Reference, a website from the US National Library of Medicine, seeks to support precision medicine education by providing the public with summaries of genetic conditions and their associated genes, as well as information about issues related to precision medicine such as disease risk and pharmacogenomics. With the advance of precision medicine, consumer-focused resources like Genetics Home Reference can be foundational in providing context for public understanding of the increasing amount of data that will become available.

• databases, genetic
• health resources
• individualized medicine
• patient education as topic

• Diamond-Blackfan anemia
• Dyskeratosis congenita
• Fanconi anemia
• Genetic counseling
• Genetic literacy
• Information seeking
• Inherited bone marrow failure syndromes
• Shwachman-Diamond syndrome