Understanding genetic learning needs of people affected by rare disease

Quinn, Laura; Davis, Kendall; Yee, Ashley; Snyder, Holly

doi:10.1002/jgc4.1233

Cited by 8 publications

(7 citation statements)

References 21 publications

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“…Disease-related information seeking, and education are widespread RD community needs [42][43][44][45]. The differentiated and unmet information needs of CDG families, their interest in digital innovations, their use of social media and of POs to overcome information-related gaps have been documented and inspired the adopted ImmunoCDGQ engagement strategies [16,41].…”

Section: Discussionmentioning

confidence: 99%

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

Francisco¹,

Brasil²,

Pascoal³

et al. 2022

Orphanet J Rare Dis

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Background Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-based platforms offer privileged opportunities for biomedical data gathering, and participant recruitment, particularly in rare diseases. The immunology and CDG electronic (e-) questionnaire (ImmunoCDGQ) explores this paradigm, proposing a people-centric framework to advance health research and participant empowerment. Objective The objectives of this study were to: (1) Describe and characterize the ImmunoCDGQ development, engagement, recruitment, participation, and result dissemination strategies; (2) To critically compare this framework with published literature and making recommendations. Methods An international, multistakeholder people-centric approach was initiated to develop and distribute the ImmunoCDGQ, a multi-lingual e-questionnaire able to collect immune-related data directly from patients and family caregivers. An adapted version was produced and distributed among the general “healthy” population (ImmunoHealthyQ), serving as the control group. Literature screening was performed to identify and analyze comparable studies. Results The ImmunoCDGQ attained high participation and inclusion rates (94.6%, 209 out of 221). Comparatively to the control, CDG participants also showed higher and more variable questionnaire completion times as well as increased English version representativeness. Additionally, 20% of the CDG group (42 out of 209) chose not to complete the entire questionnaire in one go. Conditional logic structuring guided participant data provision and accurate data analysis assignment. Multi-channel recruitment created sustained engagement with Facebook emerging as the most followed social media outlet. Still, most included ImmunoCDGQ questionnaires (50.7%, 106 out of 209) were submitted within the first month of the project’s launch. Literature search and analysis showed that most e-questionnaire-based studies in rare diseases are author-built (56.8%, 25 out of 44), simultaneously addressing medical and health-related quality of life (HRQoL) and/or information needs (79.5%, 35 out of 44). Also, over 68% of the studies adopt multi-platform recruitment (30 out of 44) actively supported by patient organizations (52.3%, 23 out of 44). Conclusions The ImmunoCDGQ, its methodology and the CDG Community served as models for health research, hence paving a successful and reproducible road to people-centricity in biomedical research.

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Section: Discussionmentioning

confidence: 99%

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

Francisco¹,

Brasil²,

Pascoal³

et al. 2022

Orphanet J Rare Dis

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“…8 A number of studies have explored the specific needs of people with a rare condition. [9][10][11] Access to appropriate specialist services, finding a generalist health provider who is willing to learn about the condition, living with uncertainty of what is best practice, and the trial and error nature of discovering it have all been reported. 4 Electronic resources, by which we mean mobile applications, websites, virtual monitoring devices, social media platforms, telehealth capability and online portals, hold promise of greater connectivity and collaboration in the field of rare diseases.…”

Section: Open Accessmentioning

confidence: 99%

“…A number of studies have explored the specific needs of people with a rare condition 9–11. Access to appropriate specialist services, finding a generalist health provider who is willing to learn about the condition, living with uncertainty of what is best practice, and the trial and error nature of discovering it have all been reported 4…”

Section: Introductionmentioning

confidence: 99%

Needs of people with rare diseases that can be supported by electronic resources: a scoping review

et al. 2022

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ObjectivesRare diseases are characterised by low incidence, often with little evidence for effective treatments. Isolated patients and specialist centres for rare diseases are increasingly connected, thanks to the internet. This scoping review aimed to identify issues facing people with a rare disease that authors report may be addressed by electronic resources (mobile applications, websites, social media platforms, telehealth and online portals).DesignScoping review guided by the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines.Data sourcesMedline, Embase and PsycInfo were searched, supplemented by hand searches of selected journals, in July 2021.Eligibility criteriaPeer-reviewed literature in English was searched using terms for rare disease (incidence <1:2000), electronic modalities (eg, mobile phone) and patient support terms. No date limit was set. Conference abstracts were included.Data extraction and synthesisData extracted: rare disease/group of diseases, name of the e-resource, need identified in the patient cohort, features of the e-resource, any other findings or observations of interest. From this, a framework was developed synthesising features across diseases and resources.ResultsSeventy-two papers were found (from 383). Fifty-six electronic resources were described in 64 papers, while 12 papers were exploratory studies. Cystic fibrosis (n=28) was the most frequently addressed, followed by haemophilia (n=16).Four domains and 23 subdomains of needs were extracted from the papers. The domains of needs were: support for self-management, access to high-quality information, access to appropriate specialist services, and social support. Subdomains are sometimes related to needs of individual rare diseases (eg, social isolation due to infection risk in people with cystic fibrosis). Fifteen electronic resources were identified that supported parents of children with rare disorders.ConclusionsWhile it can be argued that rare diseases, per se, may be no less distressing or onerous to care for than a high prevalence disease, rare diseases have unique features: the lengthy odyssey to find a diagnosis, then appropriate specialists, the lack of evidence around effective treatments, guidelines or access to knowledgeable general health service providers. Designers of electronic resources are urged to consult key stakeholders to enhance the effectiveness and usability of resources for people with a rare disease.

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“…Several studies have reported that people with rare conditions have differing needs from those with high-incidence conditions (eg, [15][16][17]). Although high-prevalence disorders may be no less distressing or onerous to care for, rare diseases have unique features: the lengthy odyssey to find a diagnosis, then to find appropriate specialists who know about the disorder; the lack of evidence about effective treatments, guidelines, or access to knowledgeable general health service providers; and isolation from peer support.…”

Section: Introductionmentioning

confidence: 99%

Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale

Hatem¹,

Long²,

Best³

et al. 2022

J Med Internet Res

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Background Mobile apps are becoming increasingly popular, with 5.70 million apps available in early 2021. Smartphones can provide portable and convenient access to health apps. Here, we consider apps for people with one of the estimated 7000 rare conditions, which are defined as having an incidence of <1 in 2000. The needs of people with rare conditions are known to be different from those of people with more common conditions. The former may be socially isolated (not knowing anyone else who has the condition) and may not be able to find reliable information about the disorder. Objective The aim of this review is to search for apps developed specifically for people diagnosed with a rare disease and to assess them for quality using the Mobile App Rating Scale (MARS). We examine features that address 6 identified needs of people with a rare disorder and make recommendations for future developers. Methods Google Play Store (Android) and Apple App Store (iOS) were searched for relevant health-related apps specifically for rare diseases. The search included the names of 10 rare disease groups. App quality was determined using MARS, assessing app engagement, functionality, aesthetics, and information. Results We found 29 relevant apps (from a total of 2272) addressing 14 rare diseases or disease groups. The most common rare conditions addressed were cystic fibrosis (n=6), hemophilia (n=5), and thalassemia (n=5). The most common app features were web-based information and symptom trackers. The mean MARS score was 3.44 (SD 0.84). Lowest scores were for engagement. Conclusions Most apps provided factual and visual information, providing tools for self-monitoring and resources to help improve interactions during health consultations. App origin and quality varied greatly. Developers are recommended to consider ways to make appropriate apps more easily identifiable to consumers, to always include high-quality information, improve engagement, provide qualitative evaluations of the app, and include consumers and clinicians in the design.

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Understanding genetic learning needs of people affected by rare disease

Cited by 8 publications

References 21 publications

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

Needs of people with rare diseases that can be supported by electronic resources: a scoping review

Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale

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