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et al. Orphanet Journal of Rare Diseases (2022) 17:357
Neff
https://doi.org/10.1186/s13023-022-02514-3
RESEARCH Open Access
Identifying project topics and requirements
in a citizen science project in rare diseases:
a participative study
1* 1 1 2 2 2
Michaela Neff , Holger Storf , Jessica Vasseur , Jörg Scheidt , Thomas Zerr , Andreas Khouri and
Jannik Schaaf1
Abstract
Background: Due to their low prevalence (< 5 in 10,000), rare diseases are an important area of research, with
the active participation of those affected being a key factor. In the Citizen Science project “SelEe” (Researching rare
diseases in a citizen science approach), citizens collaborate with researchers using a digital application, developed as
part of the project together with those affected, to answer research questions on rare diseases. The aim of this study
was to define the rare diseases to be considered, the project topics and the initial requirements for the implementa-
tion in a digital application.
Methods: To address our research questions, we took several steps to engage citizens, especially those affected by
rare diseases. This approach included the following methods: pre- and post-survey (questionnaire), two workshops
with focus group discussion and a requirements analysis workshop (with user stories).
Results: In the pre-survey, citizens suggested 45 different rare diseases and many different disease groups to be
considered in the project. Two main project topics (A) “Patient-guided documentation and data collection” (20 votes)
and (B) “Exchange of experience and networking” (13 votes) were identified as priorities in the workshops and ranked
in the post-survey. The requirements workshop resulted in ten user stories and six initial requirements to be imple-
mented in the digital application.
Conclusion: Qualitative, citizen science research can be used to collectively identify stakeholder needs, project top-
ics and requirements for a digital application in specific areas, such as rare diseases.
Keywords: Rare diseases, Citizen science, Patient science, Qualitative research
Background expertise, and lack of available health services require
In the European Union, the prevalence of a rare diseases special efforts to obtain a specific and correct diagnosis
(RD) is defined as affecting no more than 5 in 10,000 per and appropriate treatment [3–5].
-
sons. There are more than 6000 known different RDs, of As they face all these difficulties, patients with RDs and
their relatives become experts on their disease. There
which almost 72% caused by genetic abnormalities [1, -
2]. Low prevalence, complex symptomatology, limited fore, even more than for common diseases, it is necessary
to recognise them as informed and active project partici
-
pants [6, 7]. People affected by a RD should therefore be
*Correspondence: michaelachristina.neff@kgu.de directly involved in research projects, e.g. in Citizen Sci
-
1 Institute of Medical Informatics, Goethe University Frankfurt, University ence (CS) projects, which engage people in the scientific
Hospital, Frankfurt am Main, Germany process who do not work professionally in this field of
Full list of author information is available at the end of the article
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Neff et al. Orphanet Journal of Rare Diseases (2022) 17:357 Page 2 of 12
research. Muki Haklay describes "participatory science", the local area). Those interested in joining the study were
which includes CS, as the involvement of the population asked to participate in a pre-survey by completing a ques-
already in the formulation of the research question as tionnaire in PDF format available on the project website
well as in data collection [8]. (www. selee. de) and returning it by e-mail or letter.
The Project ’Seltene Erkrankungen bürgerwissen The questionnaire contained six semi-open and open-
-
schafltich erforschen! (SelEe)’ (engl. ‘Researching rare ended questions in German language (Additional file 2),
diseases in a citizen science approach’) is a joint CS pro- covering two categories of questions:
ject on RDs by the Institute for Information Systems at
Hof University of Applied Sciences (iisys) and the Insti
- 1. Questions 1–3 (Q1–3): Background of the interested
tute of Medical Informatics (IMI) at Goethe University person,
Frankfurt. The project is funded by the Federal Ministry 2. Questions 4–6 (Q4–6): Proposal of diseases and dis-
of Education and Research in Germany (BMBF) and sup- ease groups with optional justification and first topic
ported by the Alliance of Chronic Diseases (ACHSE e.V.) suggestions regarding the SelEe project.
[9, 10]. In SelEe, scientists and citizens aim to investigate
RDs together by collecting data using a digital applica- The survey was conducted over four weeks in August
tion. Citizens can contribute their knowledge and ideas 2021. Data analysis of the survey was conducted using
directly to the project, formulate requirements, and Microsoft Excel. To assign participants to expertise in
improve collaboration between all stakeholders—starting specific RD groupings (RD, not a RD, unclear), the named
with the initial phase of the project. During this phase, disease in Q3 was checked using orphanet nomenclature
the challenges and problems in the daily lives of people [12].
affected by RDs—patients as well as their relatives (fur
-
ther referred to as ‘RD-affected persons’)—will be iden- Focus groups topic definition
tified and addressed. In the context of the project, the After the pre-survey, two focus groups were conducted.
term citizen also includes any interested non-scientists These moderated group discussions were used to engage
with no connection to RDs (further referred to as "inter
- citizens in the decision-making process and to collect
ested persons"). The project will initially be carried out in and discuss different facets of challenges and topics of
Germany, with the possibility of a gradual international RD-affected persons [13–15].
expansion.
To create a long-term benefit for all RD-affected per
- Setting and sampling
sons, several steps were taken at the beginning of the The participants of the focus groups were selected from
project to identify topics that should be explored and those who had completed the pre-survey, based on
implemented. The objectives of this study were to answer one of the following inclusion criteria: affected by an
the following questions: (1) which RDs and groups of RD according to the EU-wide definition of RD, has an
RDs should be considered, (2) which topics should be unclear diagnosis, or relative of an affected person. After
investigated for joint research on RDs using a digital pre-selection according to the inclusion criteria, partici
application, and (3) which requirements for the digital -
application are considered most useful. pants were randomly selected and distributed to the two
focus groups until a maximum number of participants of
Methods 12 persons per focus group was reached [13, 15]. Finally,
the participants were invited by e-mail.
A multi-step approach was used to answer the research
questions, including the following methods: question
- Data collection
naires, focus groups and a requirements analysis work- Prior to conducting the focus groups, all participants
shop. Figure 1 illustrates the steps of this study, which received and signed a consent form and were provided
will be described in more detail in the following sec
- with information about the study (including information
tions. The Standards for Reporting Qualitative Research about the researchers). The focus groups were performed
(SRQR) guideline was considered for reporting the focus online via a video-conference application in October and
groups [11]. A checklist is available in Additional file 1. November 2021. Each focus group lasted approximately
120 min and was held in German language.
Pre‑survey A semi-structured interview guide (Additional file 3)
The invitation to the project was disseminated via various was developed in preparation for the focus groups.
media by ACHSE e.V. (e-mail distribution list) and the In addition, an interactive word cloud online appli
-
science communication department of Hof University cation [16] was used as a stimulus during the discus-
of Applied Sciences (websites, newspapers and radio in sion (Fig. 2). First proposals for project topics were
Neff et al. Orphanet Journal of Rare Diseases (2022) 17:357
Page 3 of 12
Fig. 1 Steps of the study’s multi-step approach
Neff et al. Orphanet Journal of Rare Diseases (2022) 17:357 Page 4 of 12
Post‑survey
To identify a final project topic, a post-survey was con-
ducted. In terms of CS, this survey was conducted as
a follow-up questionnaire to the focus group with an
expanded group of participants and was thus sent to all
citizen (RD-affected persons and interested persons) in
the project who had completed the pre-survey (Sect. 2.1),
excluding those who had by then revoked their participa
-
tion in the project.
The survey was conducted in anonymized form using
the online tool LimeSurvey [20]. Repeated participations
were ruled out using a dedicated feature of LimeSur
-
Fig. 2 Interactive word cloud—which project topics would you like vey. The survey was distributed via e-mail in November
to propose? 2021 and was conducted over two weeks in November/
December 2021. In the questionnaire, each participant
collected, initially showing suggested topics from Q6 of had the opportunity to vote for exactly one project topic
the pre-survey. The word cloud was then interactively (Additional file 4). Data analysis for the survey was con-
updated and discussed by all participants. ducted using Microsoft Excel.
Following a short round of introductions, the dis- Requirement analysis workshop
cussions during the focus groups were recorded via After establishing the project topic, a workshop was
audio recording and moderated by two experienced performed together with RD-affected persons to define
female moderators from ACHSE e.V.. Two research- specific requirements of the digital application for the
ers from the SelEe project team created protocols of implementation of the project topic. In this study, a
the project topic discussion to capture chat notes of requirement was defined as a software function that
the participants, visualize the topics in table form could be used by a user in a software system. The par
and prepare them for voting. Subsequently, all par -
- ticipants of both previous focus groups (Sect. 2.2) were
ticipants were asked to vote on the topics on a scale invited as the designated primary user group of the digi
of 1 to 3 (1 = "most important", 2 = "very important", -
3 = "important"). tal application. The invitation was sent in January 2022
via e-mail. All participants again received and signed a
consent form and further information before workshop
Data analysis and processing participation.
The audio recordings were transcribed and reviewed The workshop lasted 120 min and started with a short
independently by two researchers using the transcrip presentation on the topic. Afterwards, user stories, visu-
- alised with story cards, were collected interactively and
tion system of Kuckartz et al. [17, 18]. The affiliation of common requirements were discussed. A user story is an
the statements (participants/moderations team) were informal, general explanation of a software feature writ
marked and the statements of the participants were -
anonymized. The transcripts were not distributed to ten from the end user’s perspective [21]. Participants
the participants for correction or comments. However, were advised to share their suggestions using the follow-
participants received an anonymized summary of the ing user story template of Mike Cohn [22–24]: As I
results in German language. A translation of the quota want so that .
- The user stories were visualised and documented in
tions was made for the purpose of this publication. Microsoft PowerPoint by two researchers and were vis-
Based on the transcript materials, the focus group ible to all participants. The common requirements were
protocols, and the results of the project topic ranking, also noted visibly for the participants and documented
central topics were identified. For this purpose, a content- in the researchers’ notes. They were transferred from the
structuring qualitative content analysis [19] was applied researchers’ notes into Microsoft Word.
to combine the proposed topics from both focus groups
and form categories to represent project topics. The
main categories, including their sub-categories, which Results
achieved the highest prioritization in the combination of Pre‑survey
both focus groups (taking into account the average of the The pre-survey conducted during participant recruit-
voting of topics) were prepared for the post-survey. ment was answered by 69 candidates, with affected
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