An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research

An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Systematic Review An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research Marianne Gush, Shahida Moosa This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4667068/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background Rare diseases, globally and collectively, pose a significant social and economic burden with far reaching implications in both high and middle- to low-income countries. An in-depth understanding of the first-hand experiences of rare disease patients, caregivers and service providers is required to fully understand the challenges these individuals and groups face. Only once such an understanding has been developed, can steps be taken to collaborate towards effectively addressing the relevant issues. Results The current scoping review searched the most prominent databases in order to isolate original, qualitative, rare disease research published between 2004 and 2024 to determine the scope and nature of existing qualitative rare disease research. The analysis of the 150 identified studies shows a substantial overrepresentation of research from both Europe (53%) and North America (29%), and a severe underrepresentation of qualitative rare disease research from Africa (1%). Conclusions The lack of qualitative rare disease research from Africa represents a lack of understanding, not only of the lived experiences of Africans, but also an ignorance of the complex cultural factors which would potentially affect the experience of “commonly” identified themes, such as interactions with healthcare professionals and parent advocacy, stigma and social support. Psychology Rare disease Qualitative research Africa Scoping review Figures Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Introduction Rare diseases can be defined as diseases which affect no more than 1 in 2 000 people( 1 ), or alternatively, 40 per 100 000 individuals( 2 ). Such diseases are often overlooked due to their low prevalence individually; however, collectively they impose a significant burden with between 6 000 and 9 000 identified rare diseases affecting patients, families and healthcare systems worldwide( 1 , 3 ). These often complex, multi-system and debilitating diseases have been identified as a serious threat to the achievement of several of the United Nations’ Sustainable Development Goals (SDGs)( 4 ) as explored in Fig. 1 . In low to middle income countries (LMICs), such as South Africa, already grappling with numerous healthcare challenges( 6 ), the burden of rare diseases adds layers of complexity to an already strained healthcare infrastructure( 7 ). Recent estimates suggest that approximately 4.2 million people in South Africa live with rare diseases( 8 , 9 ), with a notable portion of these conditions having a genetic origin( 9 ); thus affecting the most vulnerable of groups - infants and young children. Rare diseases are typically associated with a reduced quality of life, struggles in day-to-day functioning, as well as reduced life expectancy( 1 ). Additionally, approximately 95% of rare diseases do not currently have an approved treatment( 10 ), with lack of access to available treatments and diagnostic measures (such as genetic testing) being key concerns( 11 ). In order to effectively address the challenges faced by those affected by rare diseases, it is important to first have a thorough understanding of not only the rare diseases themselves, but also the lived experiences of those both directly (patients) and indirectly (caregivers, families and service providers) affected. Qualitative inquiry, with its ability to incorporate context and complexity( 12 ), is ideally suited to provide researchers, clinicians and policy makers with valuable insights into such lived experiences. This begs the question: what qualitative, rare disease research has thus far been conducted, and what has the scope of such research been? A search of multiple databases (including Gale Academic One File, PubMed, BioMed, SpringerLink and Elsevier) reveals only one general review (in Portuguese) of qualitative rare disease research( 13 ). De Souza et al.’s review focuses the attention on both local (Brazilian) and international qualitative rare disease research published between 2013 and 2018. Other reviews found during this search used a narrower approach, focusing on specific diseases( 14 , 15 ), specific symptoms( 16 ), experiences( 17 , 18 ) or issues( 1 ). To ascertain the current depth and breadth of qualitative rare disease research, a scoping review of original, qualitative rare disease studies (published between 2004 and 2024) was conducted, allowing for the development of insights regarding the main concepts and knowledge gaps within this emerging field( 19 ). Method A scoping review was conducted for its utility in identifying the main theories, concepts and knowledge gaps, especially within an emerging field( 19 ). In order to ensure the quality and replicability of this review, the Preferred Reporting Items for System Reviews and Meta-Analyses (PRISMA-ScR) was used to guide the process( 20 ). Strategy Covering over a span of twenty years (2004 to 2024), the Scopus, Directory of Open Access Journals, PubMed, Gale Academic One File, Science Direct, Elsevier Clinical Key Journals, Springer Link, Wiley Online Library, Academic Search Premier, Ovid, and, Biomed Central databases were searched. The primary key words used for this search related to the rarity of said diseases. In order to prevent the omission of results which refer to a syndrome or condition, instead of a “rare disease”, “rare genetic” was included, since the majority of rare diseases have a genetic origin 9 . The secondary search terms (always used individually, in conjunction with the primary search terms) related to the qualitative nature of the sought studies and included the following terms: narrative, ethnographic, case study, experience, focus group, interview, participatory action research, well-being, phenomenological and qualitative. Key words were searched for within the titles of articles; however, for lacking returns the search was repeated with the primary keywords (e.g. “rare genetic”) relating to article titles, but secondary keywords (e.g. “participatory action research”) relating to any search field. Screening and Eligibility The criteria for inclusion were as follows: original, peer reviewed, qualitative studies relating to patient, caregiver, family, and/or service provider experiences of rare disease, or rare disease related matters, of which the full text was available online, in English. While there are varying definitions of what constitutes a rare disease ( 2 ), for the purposes of this review, rare diseases were defined as diseases with an incidence of no more than 1 in 2 000. The total number of search results were first reviewed by their titles to determine relevance. A second investigation of the remaining studies used the study abstracts, and if necessary, a full reading of the article in order to determine whether inclusion or exclusion criteria were met. Articles that were excluded were those not related to rare disease, not qualitative, duplicates, abstracts (only) and reviews (unless they contained original, qualitative research in addition to the review content). Mixed method studies were included, however, only the qualitative data were taken into consideration. Where possible, full articles were requested from the authors of the abstract-only articles, however, at the time of publication, none had yet been received. Data Extraction and Analysis The screened studies were uploaded onto ATLAS.ti Web( 21 ) for ease of analysis. Said analysis consisted of detailed line-by-line reading of each article with the view of isolating the following information from each: year of publication, location(s), purpose, qualitative methods employed, number of participants, participant information (such as age and gender, where available), as well as reported themes. Once all relevant data were thus identified, these details were transferred to an Excel 365 spreadsheet (Microsoft Corporation) for ease of manipulation (sequencing and ordering), comparison and representation in graphs and charts. Results Search Results Database searches, as described in the methods section, returned 793 potential articles. Considering the titles of these results and applying the inclusion criteria of peer-reviewed qualitative studies relating to the experiences of patients, caregivers, families, or service providers, for which the full text was available online in English, 585 articles were identified. Upon further inspection of the remaining studies’ abstracts, and excluding reviews, non-qualitative studies, duplicates and studies for which only an abstract was available, a further 426 articles were removed, leaving 123 studies to review. One additional article was added from an existing article’s reference list and a final search (after the analysis of the initial data set) was conducted to identify additional, recently published articles (March to the end of May 2024) to include in the search; thus, 26 more articles were included. The final data set therefore consisted of 150 articles. A list of the included studies can be found in Supplementary Table 1. A depiction of the above process can be found in Fig. 2 , and more information regarding the search terms and their results, may be viewed in Table 1 . Table 1 Progression of results, per search term, upon consideration of titles and then abstracts Search Terms Total Number of Results Results: Considering Title Results: Considering Abstract / Article (rare genetic) qualitative 7 7 4 (rare genetic) narrative 4 4 1 (rare genetic) phenomenological 5 5 2 (rare genetic) hermeneutic 0 0 0 (rare genetic) (subjective well-being) 0 0 0 (rare genetic) well-being 128 12 1 (rare genetic) ethnographic 1 1 1 (rare genetic) (participatory action research) 0 0 0 (rare genetic) (case study) 19 18 2 (rare genetic) experience 59 50 4 (rare genetic) interview 23 22 3 (rare genetic) (focus group) 9 6 4 (rare disease) qualitative 99 63 47 (rare disease) narrative 23 20 2 (rare disease) phenomenological 4 4 4 (rare disease) hermeneutic 0 0 0 (rare disease) (subjective well-being) 0 0 0 (rare disease) well-being 18 16 2 (rare disease) experience 252 226 27 (rare disease) (participatory action research) 1 1 1 (rare disease) (case study) 89 84 3 (rare disease) ethnographic 4 4 4 (rare disease) interview 39 33 8 (rare disease) (focus group) 8 8 3 Totals 793 585 123 + 1 Article from reference list 1 + 26 Articles from a more recent search 26 Final Total 150 Results by Location Of the 150 articles included in the study, 17 of the conducted studies spanned two or more continents, with a disproportionate number of studies being conducted within European and North American populations. In contrast to this, there is a clear lack of qualitative research conducted including African participants. The small proportion of African participants (as represented in Fig. 3 ) can be viewed in various ways. Firstly, it refers to two studies which included African participants. Secondly, it refers to the fact that the continent of Africa was mentioned twice out of a total of 202 mentions of location. Lastly, the 1% indicated in Fig. 3 represents exactly two individuals, one residing in Egypt and the other in an unspecified African country, out of a total of 4 959 study participants. Thus, while Africa represents 1% of location mentions, in terms of the reported participant numbers, Africa represented only 0,04% of the total number of participants across the 150 studies. Furthermore, of the 150 studies included in the current scoping review, 18 included populations from LMIC, and of those that did, 11 did so exclusively within their study (the other five using LMIC participants in combination with participants from high income countries (HIC)). Data Collection Methods, Participant Characteristics and Publication over Time The majority of the studies included in this review (66%) made use of semi-structured interviews to gather their insights. 11% made use of focus groups and 5% of the studies used a combination of both interviews and focus groups. A further 5% used a case study approach, while 4% of the included articles reported the application of an ethnographic method. Questionnaires containing open-ended questions made up 3%, and questionnaires combined with another method of data collection, 2% of the studies. Lastly, 4% of the studies reported using a different type of qualitative data which was analysed as part of the study. These included social media communications, narrative accounts and videos made by participants. In the studies which did specify the gender of participants, 68% were female, 31% male, and, 0.1% identified as non-binary. The study participants included the following groups and combinations of groups: family/caregivers of rare disease patients (30%), patients and family/caregivers (25%), patients only (21%), families/caregivers, patients and service providers (service providers referring to healthcare, mental health care professionals, social support services and patient organisations) (10%), service providers only (8%), family/caregivers and service providers (3%), patients and service providers (1%) and “other” (2%), which includes social media community group members, members of the general public and more encompassing experiences (in an ethnographic study22)). The number of participants per study ranged from 1 to 759, with the majority of studies reporting between 10 and 19 participants. The number of published, qualitative rare disease studies also seem to be increasing over time, as can be seen in Fig. 4 . Considering that the final search included relevant studies up to and including May 2024, it is quite remarkable that total number of studies for the year of 2024 already exceeds those of 2023, continuing the upward trend as visualised in the graph. Foci and Common Themes The majority of the studies reported on in this review had the purpose of exploring patient experiences and needs (35%). Another common focus was that of family/caregiver experiences, needs and coping (19%). Other reported foci included decision-making (with regards to genetic testing, research participation or treatment) (9%), patient/caregiver experiences as they relate to a developed model/product/care-pathway (9%), patient, caregiver and/or service provider illness-related experiences and experiences of treatment (8%), information needs, production, seeking and sharing portals (5%), inclusion, exclusion, stigma, values and ethical considerations (5%), access to care/care coordination and health insurance systems (5%), the impact or experience of COVID-19 (3%), patient organisations 2%), and, the experiences of siblings of rare disease patients (1%). The most commonly repeated themes across the 150 studies were as follows: the lack and importance of accurate information, disease symptoms and treatment side-effects, the experience of interactions with clinicians, the lack and importance of social support and mental health services, care coordination and collaboration amongst service providers, stigma and lack of understanding from others, feeling isolated and the need for social support, occupational/educational impacts, the often prolonged diagnostic journey, and, the role of parents/caregivers as advocates for and even experts in the care of their charges. Discussion Our scoping review highlights significant geographic disparities in qualitative rare disease research, with a pronounced overrepresentation from Europe (53%) and North America (29%). Conversely, regions predominantly consisting of LMICs, such as Africa and Asia, are markedly underrepresented. These disparities persist despite the significant portion of the global population residing in LMICs. Asia, for example, represents almost 60% of the global population( 23 ),however, qualitative rare disease research originating from Asian countries constitutes only 9% of the total research output. Similarly, Africa, which represents 18% of the global population( 23 ), contributes a mere 1% to the research output in this field. These disparities are further explored in Fig. 5 . This imbalance raises critical concerns about the inclusivity and comprehensiveness of the current body of qualitative rare disease research. The underrepresentation of LMICs not only limits our understanding of the unique challenges faced by individuals in these regions, but also perpetuates global health inequalities. The role of parents/caregivers as advocates for and even experts in the care of their charges was identified as a relevant theme throughout most of the identified studies. The lack of data from African countries, especially with regards to parent-advocacy, poses many questions around the cultural accessibility of such a stance. In taking on the role of advocate, parents are effectively engaging healthcare professionals in discussion or even debate around their child’s diagnosis and treatment – something many cultural communities may view as inappropriate and disrespectful( 24 ). Furthermore, in a multicultural society such as South Africa, some cultural groups may be more comfortable with this type of (required) parental advocacy than others, potentially leading to further, unintended inequalities in access to quality care for rare disease patients. The commonly reported theme of parent advocacy and the cultural complexity surrounding it, is a key example of the problematic nature of the identified gap in qualitative rare disease research in LMICs globally. Without comprehensive research in LMICs, we are left with significant blind spots in our understanding of rare diseases and their "common” themes. Individuals and families affected by rare diseases in Africa face a double threat: a lack of access to necessary genetic testing for diagnosis, and a dearth of information about the unique challenges they face. Further compounding these issues, research within the African context is complex due to multiculturalism (which implies a need for cultural openness and sensitivity) and multilingualism (necessitating skilled translation throughout the research process). Additionally, careful consideration of power dynamics between research participants and researchers, as well as the multiple roles researchers may fill (e.g., nurse, community leader, community health worker), must be managed carefully. These cultural and linguistic complexities may deter researchers from conducting qualitative studies in African contexts, further exacerbating the gap in our understanding and addressing the needs of individuals with rare diseases in these regions. Conclusion As explored in Fig. 1 , rare diseases pose a significant obstacle to achieving the sustainable development goals as set out by the United Nations( 4 ), impacting poverty, health, well-being, education, gender inequality, and, work and economic growth, even in HIC( 25 ). Without targeted efforts to address the impact of rare diseases, disparities in these areas will likely continue to grow. The authors advocate for extensive qualitative rare disease research in Africa, not only to fill the identified gap in knowledge, but in order to effectively address the far-reaching impact of rare diseases, while fostering insights and partnerships that can lead to meaningful improvements. As voiced by Baynam et al:26)“To advance the diagnosis of diseases that affect indigenous people, it is necessary to listen to their voices.” (26 p.189) This principle must extend to all marginalised communities globally to ensure equitable advancements in rare disease research and care. Abbreviations SDG Sustainable development goals LMIC Low- to middle income countries PRISMA-ScR Preferred Reporting Items for System Reviews and Meta-Analyses HIC High income countries Declarations Author Contributions MG and SM were jointly responsible for the conception and design of the review. MG was responsible for database searches, data analysis, interpretation and drafting of the article. SM made substantial revisions to the draft copy before submission. Funding This work received no funding. Availability of data All search procedures are fully described within the article. A complete list of the studies included in this review can be found in the Supplementary table. Ethics approval and consent to participate Not applicable. Consent for publication Not Applicable Competing interests The authors declare that they have no competing interests. Author details Rare Disease Genomics research group, Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa References Delaye J, Cacciatore P, Kole A. Valuing the “burden” and impact of rare diseases: scoping review. Front Pharmacol. 2022 Jun 8;13:914338. Chung CCY, Hong Kong Genome Project, Chu ATW, Chung BHY. Rare disease emerging as a global public health priority. Front Public Health. 2022 Oct 18;10:1028545. Bruckner-Tuderman L. Epidemiology of rare diseases is important. J Eur Acad Dermatol Venereol. 2021 Apr;35(4):783–4. Sustainable Development Goals [Internet]. United Nations Development Programme. 2024 [cited 2024 May 20]. Available from: https://www.undp.org/sustainable-development-goals Richards D. 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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nat Genet. 2024 Feb;56(2):189–93. Supplementary Tables Supplementary Table 1 is not available with this version. Additional Declarations The authors declare no competing interests. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. 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citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e), or alternatively, 40 per 100 000 individuals(\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). Such diseases are often overlooked due to their low prevalence individually; however, collectively they impose a significant burden with between 6 000 and 9 000 identified rare diseases affecting patients, families and healthcare systems worldwide(\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e). These often complex, multi-system and debilitating diseases have been identified as a serious threat to the achievement of several of the United Nations\u0026rsquo; Sustainable Development Goals (SDGs)(\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e) as explored in Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eIn low to middle income countries (LMICs), such as South Africa, already grappling with numerous healthcare challenges(\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e), the burden of rare diseases adds layers of complexity to an already strained healthcare infrastructure(\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). Recent estimates suggest that approximately 4.2\u0026nbsp;million people in South Africa live with rare diseases(\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e), with a notable portion of these conditions having a genetic origin(\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e); thus affecting the most vulnerable of groups - infants and young children. Rare diseases are typically associated with a reduced quality of life, struggles in day-to-day functioning, as well as reduced life expectancy(\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). Additionally, approximately 95% of rare diseases do not currently have an approved treatment(\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e), with lack of access to available treatments and diagnostic measures (such as genetic testing) being key concerns(\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eIn order to effectively address the challenges faced by those affected by rare diseases, it is important to first have a thorough understanding of not only the rare diseases themselves, but also the lived experiences of those both directly (patients) and indirectly (caregivers, families and service providers) affected. Qualitative inquiry, with its ability to incorporate context and complexity(\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e), is ideally suited to provide researchers, clinicians and policy makers with valuable insights into such lived experiences. This begs the question: what qualitative, rare disease research has thus far been conducted, and what has the scope of such research been?\u003c/p\u003e \u003cp\u003eA search of multiple databases (including Gale Academic One File, PubMed, BioMed, SpringerLink and Elsevier) reveals only one general review (in Portuguese) of qualitative rare disease research(\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e). De Souza et al.\u0026rsquo;s review focuses the attention on both local (Brazilian) and international qualitative rare disease research published between 2013 and 2018. Other reviews found during this search used a narrower approach, focusing on specific diseases(\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e), specific symptoms(\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e), experiences(\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e) or issues(\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eTo ascertain the current depth and breadth of qualitative rare disease research, a scoping review of original, qualitative rare disease studies (published between 2004 and 2024) was conducted, allowing for the development of insights regarding the main concepts and knowledge gaps within this emerging field(\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e).\u003c/p\u003e"},{"header":"Method","content":"\u003cp\u003eA scoping review was conducted for its utility in identifying the main theories, concepts and knowledge gaps, especially within an emerging field(\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e). In order to ensure the quality and replicability of this review, the Preferred Reporting Items for System Reviews and Meta-Analyses (PRISMA-ScR) was used to guide the process(\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e).\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eStrategy\u003c/h2\u003e \u003cp\u003eCovering over a span of twenty years (2004 to 2024), the Scopus, Directory of Open Access Journals, PubMed, Gale Academic One File, Science Direct, Elsevier Clinical Key Journals, Springer Link, Wiley Online Library, Academic Search Premier, Ovid, and, Biomed Central databases were searched. The primary key words used for this search related to the rarity of said diseases. In order to prevent the omission of results which refer to a syndrome or condition, instead of a \u0026ldquo;rare disease\u0026rdquo;, \u0026ldquo;rare genetic\u0026rdquo; was included, since the majority of rare diseases have a genetic origin\u003csup\u003e9\u003c/sup\u003e. The secondary search terms (always used individually, in conjunction with the primary search terms) related to the qualitative nature of the sought studies and included the following terms: narrative, ethnographic, case study, experience, focus group, interview, participatory action research, well-being, phenomenological and qualitative. Key words were searched for within the titles of articles; however, for lacking returns the search was repeated with the primary keywords (e.g. \u0026ldquo;rare genetic\u0026rdquo;) relating to article titles, but secondary keywords (e.g. \u0026ldquo;participatory action research\u0026rdquo;) relating to any search field.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003eScreening and Eligibility\u003c/h2\u003e \u003cp\u003eThe criteria for inclusion were as follows: original, peer reviewed, qualitative studies relating to patient, caregiver, family, and/or service provider experiences of rare disease, or rare disease related matters, of which the full text was available online, in English. While there are varying definitions of what constitutes a rare disease (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e), for the purposes of this review, rare diseases were defined as diseases with an incidence of no more than 1 in 2 000. The total number of search results were first reviewed by their titles to determine relevance. A second investigation of the remaining studies used the study abstracts, and if necessary, a full reading of the article in order to determine whether inclusion or exclusion criteria were met. Articles that were excluded were those not related to rare disease, not qualitative, duplicates, abstracts (only) and reviews (unless they contained original, qualitative research in addition to the review content). Mixed method studies were included, however, only the qualitative data were taken into consideration. Where possible, full articles were requested from the authors of the abstract-only articles, however, at the time of publication, none had yet been received.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec5\" class=\"Section2\"\u003e \u003ch2\u003eData Extraction and Analysis\u003c/h2\u003e \u003cp\u003eThe screened studies were uploaded onto ATLAS.ti Web(\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e) for ease of analysis. Said analysis consisted of detailed line-by-line reading of each article with the view of isolating the following information from each: year of publication, location(s), purpose, qualitative methods employed, number of participants, participant information (such as age and gender, where available), as well as reported themes. Once all relevant data were thus identified, these details were transferred to an Excel 365 spreadsheet (Microsoft Corporation) for ease of manipulation (sequencing and ordering), comparison and representation in graphs and charts.\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec7\" class=\"Section2\"\u003e \u003ch2\u003eSearch Results\u003c/h2\u003e \u003cp\u003eDatabase searches, as described in the methods section, returned 793 potential articles. Considering the titles of these results and applying the inclusion criteria of peer-reviewed qualitative studies relating to the experiences of patients, caregivers, families, or service providers, for which the full text was available online in English, 585 articles were identified. Upon further inspection of the remaining studies\u0026rsquo; abstracts, and excluding reviews, non-qualitative studies, duplicates and studies for which only an abstract was available, a further 426 articles were removed, leaving 123 studies to review. One additional article was added from an existing article\u0026rsquo;s reference list and a final search (after the analysis of the initial data set) was conducted to identify additional, recently published articles (March to the end of May 2024) to include in the search; thus, 26 more articles were included. The final data set therefore consisted of 150 articles. A list of the included studies can be found in Supplementary Table\u0026nbsp;1.\u003c/p\u003e \u003cp\u003eA depiction of the above process can be found in Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e, and more information regarding the search terms and their results, may be viewed in Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eProgression of results, per search term, upon consideration of titles and then abstracts\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSearch Terms\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eTotal Number of Results\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eResults: Considering Title\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eResults: Considering Abstract / Article\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) qualitative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e7\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e7\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) narrative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) phenomenological\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) hermeneutic\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) (subjective well-being)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) well-being\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e128\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e12\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) ethnographic\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) (participatory action research)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) (case study)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e19\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e18\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) experience\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e59\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e50\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) interview\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e23\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e22\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare genetic) (focus group)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e9\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) qualitative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e99\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e63\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e47\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) narrative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e23\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e20\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) phenomenological\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) hermeneutic\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) (subjective well-being)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) well-being\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e18\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e16\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) experience\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e252\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e226\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e27\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) (participatory action research)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) (case study)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e89\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e84\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) ethnographic\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) interview\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e39\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e33\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e(rare disease) (focus group)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTotals\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e\u003cb\u003e793\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e\u003cb\u003e585\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e123\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e+\u0026thinsp;1 Article from reference list\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e+\u0026thinsp;26 Articles from a more recent search\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e26\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFinal Total\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e150\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eResults by Location\u003c/h2\u003e \u003cp\u003eOf the 150 articles included in the study, 17 of the conducted studies spanned two or more continents, with a disproportionate number of studies being conducted within European and North American populations. In contrast to this, there is a clear lack of qualitative research conducted including African participants. The small proportion of African participants (as represented in Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e) can be viewed in various ways. Firstly, it refers to two studies which included African participants. Secondly, it refers to the fact that the continent of Africa was mentioned twice out of a total of 202 mentions of location. Lastly, the 1% indicated in Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e represents exactly two individuals, one residing in Egypt and the other in an unspecified African country, out of a total of 4 959 study participants. Thus, while Africa represents 1% of location mentions, in terms of the reported participant numbers, Africa represented only 0,04% of the total number of participants across the 150 studies.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eFurthermore, of the 150 studies included in the current scoping review, 18 included populations from LMIC, and of those that did, 11 did so exclusively within their study (the other five using LMIC participants in combination with participants from high income countries (HIC)).\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec9\" class=\"Section2\"\u003e \u003ch2\u003eData Collection Methods, Participant Characteristics and Publication over Time\u003c/h2\u003e \u003cp\u003eThe majority of the studies included in this review (66%) made use of semi-structured interviews to gather their insights. 11% made use of focus groups and 5% of the studies used a combination of both interviews and focus groups. A further 5% used a case study approach, while 4% of the included articles reported the application of an ethnographic method. Questionnaires containing open-ended questions made up 3%, and questionnaires combined with another method of data collection, 2% of the studies. Lastly, 4% of the studies reported using a different type of qualitative data which was analysed as part of the study. These included social media communications, narrative accounts and videos made by participants. In the studies which did specify the gender of participants, 68% were female, 31% male, and, 0.1% identified as non-binary.\u003c/p\u003e \u003cp\u003eThe study participants included the following groups and combinations of groups: family/caregivers of rare disease patients (30%), patients \u003cem\u003eand\u003c/em\u003e family/caregivers (25%), patients only (21%), families/caregivers, patients \u003cem\u003eand\u003c/em\u003e service providers (service providers referring to healthcare, mental health care professionals, social support services and patient organisations) (10%), service providers only (8%), family/caregivers and service providers (3%), patients \u003cem\u003eand\u003c/em\u003e service providers (1%) and \u0026ldquo;other\u0026rdquo; (2%), which includes social media community group members, members of the general public and more encompassing experiences (in an ethnographic study22)).\u003c/p\u003e \u003cp\u003eThe number of participants per study ranged from 1 to 759, with the majority of studies reporting between 10 and 19 participants. The number of published, qualitative rare disease studies also seem to be increasing over time, as can be seen in Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003e. Considering that the final search included relevant studies up to and including May 2024, it is quite remarkable that total number of studies for the year of 2024 already exceeds those of 2023, continuing the upward trend as visualised in the graph.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec10\" class=\"Section2\"\u003e \u003ch2\u003eFoci and Common Themes\u003c/h2\u003e \u003cp\u003eThe majority of the studies reported on in this review had the purpose of exploring patient experiences and needs (35%). Another common focus was that of family/caregiver experiences, needs and coping (19%). Other reported foci included decision-making (with regards to genetic testing, research participation or treatment) (9%), patient/caregiver experiences as they relate to a developed model/product/care-pathway (9%), patient, caregiver and/or service provider illness-related experiences and experiences of treatment (8%), information needs, production, seeking and sharing portals (5%), inclusion, exclusion, stigma, values and ethical considerations (5%), access to care/care coordination and health insurance systems (5%), the impact or experience of COVID-19 (3%), patient organisations 2%), and, the experiences of siblings of rare disease patients (1%).\u003c/p\u003e \u003cp\u003eThe most commonly repeated themes across the 150 studies were as follows: the lack and importance of accurate information, disease symptoms and treatment side-effects, the experience of interactions with clinicians, the lack and importance of social support and mental health services, care coordination and collaboration amongst service providers, stigma and lack of understanding from others, feeling isolated and the need for social support, occupational/educational impacts, the often prolonged diagnostic journey, and, the role of parents/caregivers as advocates for and even experts in the care of their charges.\u003c/p\u003e \u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003e Our scoping review highlights significant geographic disparities in qualitative rare disease research, with a pronounced overrepresentation from Europe (53%) and North America (29%). Conversely, regions predominantly consisting of LMICs, such as Africa and Asia, are markedly underrepresented. These disparities persist despite the significant portion of the global population residing in LMICs. Asia, for example, represents almost 60% of the global population(\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e),however, qualitative rare disease research originating from Asian countries constitutes only 9% of the total research output. Similarly, Africa, which represents 18% of the global population(\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e), contributes a mere 1% to the research output in this field. These disparities are further explored in Fig.\u0026nbsp;\u003cspan refid=\"Fig5\" class=\"InternalRef\"\u003e5\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003eThis imbalance raises critical concerns about the inclusivity and comprehensiveness of the current body of qualitative rare disease research. The underrepresentation of LMICs not only limits our understanding of the unique challenges faced by individuals in these regions, but also perpetuates global health inequalities.\u003c/p\u003e \u003cp\u003eThe role of parents/caregivers as advocates for and even experts in the care of their charges was identified as a relevant theme throughout most of the identified studies. The lack of data from African countries, especially with regards to parent-advocacy, poses many questions around the cultural accessibility of such a stance. In taking on the role of advocate, parents are effectively engaging healthcare professionals in discussion or even debate around their child\u0026rsquo;s diagnosis and treatment \u0026ndash; something many cultural communities may view as inappropriate and disrespectful(\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e). Furthermore, in a multicultural society such as South Africa, some cultural groups may be more comfortable with this type of (required) parental advocacy than others, potentially leading to further, unintended inequalities in access to quality care for rare disease patients. The commonly reported theme of parent advocacy and the cultural complexity surrounding it, is a key example of the problematic nature of the identified gap in qualitative rare disease research in LMICs globally. Without comprehensive research in LMICs, we are left with significant blind spots in our understanding of rare diseases and their \"common\u0026rdquo; themes.\u003c/p\u003e \u003cp\u003eIndividuals and families affected by rare diseases in Africa face a double threat: a lack of access to necessary genetic testing for diagnosis, and a dearth of information about the unique challenges they face. Further compounding these issues, research within the African context is complex due to multiculturalism (which implies a need for cultural openness and sensitivity) and multilingualism (necessitating skilled translation throughout the research process). Additionally, careful consideration of power dynamics between research participants and researchers, as well as the multiple roles researchers may fill (e.g., nurse, community leader, community health worker), must be managed carefully. These cultural and linguistic complexities may deter researchers from conducting qualitative studies in African contexts, further exacerbating the gap in our understanding and addressing the needs of individuals with rare diseases in these regions.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eAs explored in Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e, rare diseases pose a significant obstacle to achieving the sustainable development goals as set out by the United Nations(\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e), impacting poverty, health, well-being, education, gender inequality, and, work and economic growth, even in HIC(\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e). Without targeted efforts to address the impact of rare diseases, disparities in these areas will likely continue to grow. The authors advocate for extensive qualitative rare disease research in Africa, not only to fill the identified gap in knowledge, but in order to effectively address the far-reaching impact of rare diseases, while fostering insights and partnerships that can lead to meaningful improvements.\u003c/p\u003e \u003cp\u003e As voiced by Baynam et al:26)\u0026ldquo;To advance the diagnosis of diseases that affect indigenous people, it is necessary to listen to their voices.\u0026rdquo; (26 p.189) This principle must extend to all marginalised communities globally to ensure equitable advancements in rare disease research and care.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003eSDG Sustainable development goals\u003c/p\u003e \u003cp\u003eLMIC Low- to middle income countries\u003c/p\u003e \u003cp\u003e PRISMA-ScR Preferred Reporting Items for System Reviews and Meta-Analyses\u003c/p\u003e \u003cp\u003eHIC High income countries\u003c/p\u003e "},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAuthor Contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eMG and SM were jointly responsible for the conception and design of the review. MG was responsible for database searches, data analysis, interpretation and drafting of the article. SM made substantial revisions to the draft copy before submission.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis work received no funding.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll search procedures are fully described within the article. A complete list of the studies included in this review can be found in the Supplementary table.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot Applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor details\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eRare Disease Genomics research group, Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e"},{"header":"References","content":"\u003col start=\"1\" type=\"1\"\u003e\n\u003cli\u003eDelaye J, Cacciatore P, Kole A. 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Scientific Software Development GmbH; 2024.\u003c/li\u003e\n\u003cli\u003eGibbon S, Aureliano W. Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil. Anthropol Med. 2018 Apr;25(1):11\u0026ndash;29.\u003c/li\u003e\n\u003cli\u003eDyvik EH. World population by continent 2023 | Statista [Internet]. STATISTA. 2024 [cited 2024 May 8]. Available from: https://www.statista.com/statistics/237584/distribution-of-the-world-population-by-continent/\u003c/li\u003e\n\u003cli\u003eHalley MC, Halverson CME, Tabor HK, Goldenberg AJ. Rare disease, advocacy and justice: intersecting disparities in research and clinical care. Am J Bioeth. 2023 Jul;23(7):17\u0026ndash;26.\u003c/li\u003e\n\u003cli\u003eJohansson E, Kallionp\u0026auml;\u0026auml; RA, B\u0026ouml;ckerman P, Peltonen S, Peltonen J. The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from Finland. Genet Med. 2022 Apr;24(4):870\u0026ndash;9.\u003c/li\u003e\n\u003cli\u003eBaynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, et al. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nat Genet. 2024 Feb;56(2):189\u0026ndash;93.\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Supplementary Tables","content":"\u003cp\u003eSupplementary Table 1 is not available with this version.\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"Stellenbosch University","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Rare disease, Qualitative research, Africa, Scoping review","lastPublishedDoi":"10.21203/rs.3.rs-4667068/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4667068/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e \u003cp\u003eRare diseases, globally and collectively, pose a significant social and economic burden with far reaching implications in both high and middle- to low-income countries. An in-depth understanding of the first-hand experiences of rare disease patients, caregivers and service providers is required to fully understand the challenges these individuals and groups face. Only once such an understanding has been developed, can steps be taken to collaborate towards effectively addressing the relevant issues.\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eThe current scoping review searched the most prominent databases in order to isolate original, qualitative, rare disease research published between 2004 and 2024 to determine the scope and nature of existing qualitative rare disease research. The analysis of the 150 identified studies shows a substantial overrepresentation of research from both Europe (53%) and North America (29%), and a severe underrepresentation of qualitative rare disease research from Africa (1%).\u003c/p\u003e\u003ch2\u003eConclusions\u003c/h2\u003e \u003cp\u003eThe lack of qualitative rare disease research from Africa represents a lack of understanding, not only of the lived experiences of Africans, but also an ignorance of the complex cultural factors which would potentially affect the experience of \u0026ldquo;commonly\u0026rdquo; identified themes, such as interactions with healthcare professionals and parent advocacy, stigma and social support.\u003c/p\u003e","manuscriptTitle":"An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-07-02 17:39:44","doi":"10.21203/rs.3.rs-4667068/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"68d2fe73-f2ce-4246-9c2c-42862aa1795e","owner":[],"postedDate":"July 2nd, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":33947940,"name":"Psychology"}],"tags":[],"updatedAt":"2024-07-02T17:39:44+00:00","versionOfRecord":[],"versionCreatedAt":"2024-07-02 17:39:44","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4667068","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4667068","identity":"rs-4667068","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}