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Identifying project topics and requirements in a citizen science project in rare diseases: a participative study


Abstract and Figures

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 implementation 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 implemented in the digital application. Conclusion Qualitative, citizen science research can be used to collectively identify stakeholder needs, project topics and requirements for a digital application in specific areas, such as rare diseases.
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Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
Identifying project topics andrequirements
inacitizen science project inrare diseases:
aparticipative study
Michaela Neff1* , Holger Storf1, Jessica Vasseur1, Jörg Scheidt2, Thomas Zerr2, Andreas Khouri2 and
Jannik Schaaf1
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
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In the European Union, the prevalence of a rare diseases
(RD) is defined as affecting no more than 5 in 10,000 per-
sons. ere are more than 6000 known different RDs, of
which almost 72% caused by genetic abnormalities [1,
2]. Low prevalence, complex symptomatology, limited
expertise, and lack of available health services require
special efforts to obtain a specific and correct diagnosis
and appropriate treatment [35].
As they face all these difficulties, patients with RDs and
their relatives become experts on their disease. ere-
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
directly involved in research projects, e.g. in Citizen Sci-
ence (CS) projects, which engage people in the scientific
process who do not work professionally in this field of
Open Access
1 Institute of Medical Informatics, Goethe University Frankfurt, University
Hospital, Frankfurt am Main, Germany
Full list of author information is available at the end of the article
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research. Muki Haklay describes "participatory science",
which includes CS, as the involvement of the population
already in the formulation of the research question as
well as in data collection [8].
e Project ’Seltene Erkrankungen bürgerwissen-
schafltich erforschen! (SelEe)’ (engl. ‘Researching rare
diseases in a citizen science approach’) is a joint CS pro-
ject on RDs by the Institute for Information Systems at
Hof University of Applied Sciences (iisys) and the Insti-
tute of Medical Informatics (IMI) at Goethe University
Frankfurt. e project is funded by the Federal Ministry
of Education and Research in Germany (BMBF) and sup-
ported by the Alliance of Chronic Diseases (ACHSE e.V.)
[9, 10]. In SelEe, scientists and citizens aim to investigate
RDs together by collecting data using a digital applica-
tion. Citizens can contribute their knowledge and ideas
directly to the project, formulate requirements, and
improve collaboration between all stakeholders—starting
with the initial phase of the project. During this phase,
the challenges and problems in the daily lives of people
affected by RDs—patients as well as their relatives (fur-
ther referred to as ‘RD-affected persons’)—will be iden-
tified and addressed. In the context of the project, the
term citizen also includes any interested non-scientists
with no connection to RDs (further referred to as "inter-
ested persons"). e project will initially be carried out in
Germany, with the possibility of a gradual international
To create a long-term benefit for all RD-affected per-
sons, several steps were taken at the beginning of the
project to identify topics that should be explored and
implemented. e objectives of this study were to answer
the following questions: (1) which RDs and groups of
RDs should be considered, (2) which topics should be
investigated for joint research on RDs using a digital
application, and (3) which requirements for the digital
application are considered most useful.
A multi-step approach was used to answer the research
questions, including the following methods: question-
naires, focus groups and a requirements analysis work-
shop. Figure1 illustrates the steps of this study, which
will be described in more detail in the following sec-
tions. e Standards for Reporting Qualitative Research
(SRQR) guideline was considered for reporting the focus
groups [11]. A checklist is available in Additional file1.
e invitation to the project was disseminated via various
media by ACHSE e.V. (e-mail distribution list) and the
science communication department of Hof University
of Applied Sciences (websites, newspapers and radio in
the local area). ose interested in joining the study were
asked to participate in a pre-survey by completing a ques-
tionnaire in PDF format available on the project website
(www. selee. de) and returning it by e-mail or letter.
e questionnaire contained six semi-open and open-
ended questions in German language (Additional file2),
covering two categories of questions:
1. Questions 1–3 (Q1–3): Background of the interested
2. Questions 4–6 (Q4–6): Proposal of diseases and dis-
ease groups with optional justification and first topic
suggestions regarding the SelEe project.
e survey was conducted over four weeks in August
2021. Data analysis of the survey was conducted using
Microsoft Excel. To assign participants to expertise in
specific RD groupings (RD, not a RD, unclear), the named
disease in Q3 was checked using orphanet nomenclature
Focus groups topic denition
After the pre-survey, two focus groups were conducted.
ese moderated group discussions were used to engage
citizens in the decision-making process and to collect
and discuss different facets of challenges and topics of
RD-affected persons [1315].
Setting andsampling
e participants of the focus groups were selected from
those who had completed the pre-survey, based on
one of the following inclusion criteria: affected by an
RD according to the EU-wide definition of RD, has an
unclear diagnosis, or relative of an affected person. After
pre-selection according to the inclusion criteria, partici-
pants were randomly selected and distributed to the two
focus groups until a maximum number of participants of
12 persons per focus group was reached [13, 15]. Finally,
the participants were invited by e-mail.
Data collection
Prior to conducting the focus groups, all participants
received and signed a consent form and were provided
with information about the study (including information
about the researchers). e focus groups were performed
online via a video-conference application in October and
November 2021. Each focus group lasted approximately
120min and was held in German language.
A semi-structured interview guide (Additional file3)
was developed in preparation for the focus groups.
In addition, an interactive word cloud online appli-
cation [16] was used as a stimulus during the discus-
sion (Fig. 2). First proposals for project topics were
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Fig. 1 Steps of the study’s multi-step approach
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collected, initially showing suggested topics from Q6 of
the pre-survey. e word cloud was then interactively
updated and discussed by all participants.
Following a short round of introductions, the dis-
cussions during the focus groups were recorded via
audio recording and moderated by two experienced
female moderators from ACHSE e.V.. Two research-
ers from the SelEe project team created protocols of
the project topic discussion to capture chat notes of
the participants, visualize the topics in table form
and prepare them for voting. Subsequently, all par-
ticipants were asked to vote on the topics on a scale
of 1 to 3 (1 = "most important", 2 = "very important",
3 = "important").
Data analysis andprocessing
e audio recordings were transcribed and reviewed
independently by two researchers using the transcrip-
tion system of Kuckartz etal. [17, 18]. e affiliation of
the statements (participants/moderations team) were
marked and the statements of the participants were
anonymized. e transcripts were not distributed to
the participants for correction or comments. However,
participants received an anonymized summary of the
results in German language. A translation of the quota-
tions was made for the purpose of this publication.
Based on the transcript materials, the focus group
protocols, and the results of the project topic ranking,
central topics were identified. For this purpose, a content-
structuring qualitative content analysis [19] was applied
to combine the proposed topics from both focus groups
and form categories to represent project topics. e
main categories, including their sub-categories, which
achieved the highest prioritization in the combination of
both focus groups (taking into account the average of the
voting of topics) were prepared for the 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.
e survey was conducted in anonymized form using
the online tool LimeSurvey [20]. Repeated participations
were ruled out using a dedicated feature of LimeSur-
vey. e survey was distributed via e-mail in November
2021 and was conducted over two weeks in November/
December 2021. In the questionnaire, each participant
had the opportunity to vote for exactly one project topic
(Additional file4). Data analysis for the survey was con-
ducted using Microsoft Excel.
Requirement analysis workshop
After establishing the project topic, a workshop was
performed together with RD-affected persons to define
specific requirements of the digital application for the
implementation of the project topic. In this study, a
requirement was defined as a software function that
could be used by a user in a software system. e par-
ticipants of both previous focus groups (Sect.2.2) were
invited as the designated primary user group of the digi-
tal application. e invitation was sent in January 2022
via e-mail. All participants again received and signed a
consent form and further information before workshop
e workshop lasted 120min and started with a short
presentation on the topic. Afterwards, user stories, visu-
alised with story cards, were collected interactively and
common requirements were discussed. A user story is an
informal, general explanation of a software feature writ-
ten from the end user’s perspective [21]. Participants
were advised to share their suggestions using the follow-
ing user story template of Mike Cohn [2224]: As <role> I
want <goal, functionality> so that <some reason, benefit>.
e user stories were visualised and documented in
Microsoft PowerPoint by two researchers and were vis-
ible to all participants. e common requirements were
also noted visibly for the participants and documented
in the researchers’ notes. ey were transferred from the
researchers’ notes into Microsoft Word.
e pre-survey conducted during participant recruit-
ment was answered by 69 candidates, with affected
Fig. 2 Interactive word cloud—which project topics would you like
to propose?
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persons and relatives making up the majority of partici-
pants. A breakdown of participants by group (Q1), pre-
vious experience (Q2), and knowledge of RDs through
different backgrounds (Q3) is provided in Table1.
e evaluation of the disease expertise given in the
free text (Q3) in terms of classification as RD, no RD or
unclear diagnosis is shown in Table2.
In the optional question Q4, 20 combinations of disease
groups were suggested for the project (Additional File 5).
With the exception of the group ’Transplantation in Chil-
dren’, every disease group was mentioned at least once,
with the following four groups accounting for almost half
of the mentions:
Immunodeficiency, autoinflammatory and autoim-
mune diseases
Neurological diseases
Neuromuscular diseases
Rare multisystemic vascular diseases
In the optional question Q5, 45 different RDs were sug-
gested as distinct diseases to be included in the project.
e justifications (Q6) ranged from personal experiences
to specific research gaps. A listing of the specific diseases
(Q5) as well as the corresponding justifications for the
suggestion (Q6) is not provided in this publication for
reasons of personal reference (data privacy) e.g. for dis-
eases with a very low prevalence.
Focus groups topic denition
e results of the focus groups (first focus group: 11
participants, second focus group: 9 participants) are
presented below, organized by categories. e qualita-
tive content analysis identified three main categories
with three to four sub-categories (Fig.3). References for
selected quotations are given for each statement (Addi-
tional file6). Exemplary quotations and field/focus group
notes are also listed, abbreviated as "S" (statement/quo-
tation) and "N" (note), and numbered in ascending order
(e.g. S1, N1).
Main category A: patient‑guided documentation anddata
Documentation support for patient‑managed record
and care overview e participants discussed that
it would be helpful to provide a digital overview of the
(social) care of RD patients in the digital application
through the collection of receipts, doctor’s letters and
medical findings (S1, S2). Additionally, imaging results
and the specific preparation of doctor’s visits represent
important aspects (S3). One participant described the
preparation for a doctor’s visit as follows:
Basically, every visit to the doctor is meticulously
prepared so that we can bring the things exactly tai
lored to the request, […] and if I prepare everything
well, then I have a good chance of getting my doctor’s
prescription or my medical prescription. (S2)
Another participant stated that a translation function
of the diagnostic findings would be useful when going
abroad, especially a function that translates from Ger-
man into English (S4). In addition, social aspects such as
everyday life with severe RDs and paediatric patients as a
subgroup in specific RDs were discussed (S5, S6).
Furthermore, electronic health records (EHRs) were
declared inadequate in the discussion (S4, S7). Accessibil-
ity for people with disabilities, e.g. blindness, is often not
considered in these applications (S2). Moreover, there
were some statements by the participants on documen-
tation support for symptom tracking. For RDs, there are
Table 1 Experience and background of the participants (Q1- Q3)
Item Frequency
Q1: Group of participants (multiple answers possible)
Affected persons and relatives 68
Students 3
Medical professionals 3
Interested citizens 6
Others 6
No response 0
Q2: Previous experience of participants (multiple answers possible)
Experience in the subject field of rare diseases 42
Scientific work 18
Statistics 10
Design and creation 5
Computer science 5
Citizen science 4
Others 16
No response 10
Q3: Expertise in RD gained by (multiple answers possible)
Being affected by an RD 56
Being relative of a affected person 9
Studies 6
Profession 5
Others 3
Table 2 Evaluation of stated RD expertise (free text)
Evaluation of stated RD expertise Frequency
Rare disease 49
Not a rare disease 16
Still unclear (unclear diagnostics) 4
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often no adequate and customizable RD-specific applica-
tions to support digital documentation (S7, S9).
Digitization and simplification of (handwritten) docu
mentation As the digital applications currently available
for documenting their information are inadequate (S2, S7,
S9), patients use tools such as Microsoft Word or Excel to
accurately record symptoms, diagnoses and medications
with dates and times (S7, S8). One participant stated:
[…] So I sit down every three months and summarize
that on an A4 sheet. ere, again, I would like some
thing, whether there are better options for recording.
Collection ofelectronic data frompatients withrare dis
eases forresearch purposes Patient registries have been
discussed by the patients as tools to collect data on a spe-
cific RD for research purposes. Only a few registries are
known to the participants and the question of including
new diseases was raised (S10, S11). e collection of this
data is an important factor for RD-affected persons and
there is still a need:
[…] digital acquisition on a broad scale, which is
also barrier‑free for the visually impaired, for the
blind, for the mobility‑impaired or for the hearing‑
impaired, in whatever form. is will yield a much
larger amount of data […] because the data are
simply not available. If we patients can record this
data, also in the respective quantities and with the
respective accuracy, then there is a completely differ
ent foundation […] (S11)
Collection of data on social and medical care
throughpatient‑initiated surveys One participant pro-
posed a flexible survey instrument to cover medical and
social aspects of patients with RDs:
[…] So that you have a tool to create quite flexible
A: Paent-guided
documentaon and
data collecon
I. Documentaon
support for paent-
managed record and
care overview
II. Digizaon and
simplificaon of
III. Collecon of
electronic data from
paents with rare
diseases for research
IV. Collecon of data
on social and medical
care through paent-
iniated surveys
B: Exchange of
experience and
I. Exchange of
experience and
networking among
those affected
II. Exchange of
experience and
networking with
medical professionals
III. Definion of
checklists (for visits
to the doctor)
C: Visibility increase of
RDs and improvement
of health care
I. Raising awareness
among medical
service provider
II. Informaon
material for those
affected in medical
III. Improvement and
standardizaon of
Fig. 3 Results from category formation
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surveys. Maybe for patient organizations, so I would
now like to invite everyone who has this syndrome or
to investigate how they are doing, what support they
need, how they organize their everyday life. […]. So,
from an IT perspective, a flexible tool for surveys,
and a way to reach people with rare diseases […].
Main category B: exchange ofexperience andnetworking
Exchange of experience and networking among those
affected e communication among affected needs to
extend beyond current disease-specific communities,
e.g., through social media. Furthermore, participants dis-
cussed negative experiences with those communities (S8,
S15, S16). One participant stated:
[…] I think the challenge will be to develop some
thing that covers the non‑specific in general. at’s
why I was thinking a bit about communities within
this platform. Because that already works quite well
on Facebook, Facebook groups, for specific diseases.
But there, again, the general aspect is missing. (S8)
Exchange ofexperience andnetworking withmedical pro
fessionals Participants suggested better communica-
tion and more exchange with medical professionals e.g.,
through training initiated by patient organizations (S12).
Definition ofchecklists (for visits tothedoctor) Partici-
pants suggested checklists, as support for doctor visits.
Similar approaches have been developed by RD patient
organizations in the past. Moreover, some pharmaceuti-
cal companies also offer checklists, e.g., to rate specific
symptoms (S3, S13, S14).
Main category C: visibility increase ofRDs andimprovement
ofhealth care
Raising awareness amongmedical professionals andser‑
vice provider For raising awareness of RDs, qualifica-
tion of medical professionals in the field of RDs as well
as improved financial possibilities, are desired by the par-
ticipants (N1). Awareness of RDs should be strengthened,
e.g., regarding the reimbursements of costs for treatment
of RD patients (N2, N3, N4).
Information material forthose affected in medical prac
tices e availability of information material for affected
persons was addressed. One participant stated:
[…] It would be helpful, for example, if patient
organization flyers could be displayed at the doctors’
offices […]. Where to find a patient organization?
If the doctors were open to it […] I think you would
also reach the people. (S15)
Improvement and standardization of guidelines Fur-
thermore, participants mentioned that clinical guidelines
for RDs should be improved and standardized [N5].
Prioritizing topics
In the first focus group ’Overview of the previous (social)
care’ from main category A achieved the highest prior-
itisation with an average of 1.0 (corresponds to “most
important”). In the second focus group ’Exchange of
experience and networking’ from the main category B
was prioritised with an average of 1.25. e complete
table with all topics and results of the prioritisation dur-
ing the focus groups, as well as the assignment to the cat-
egories, can be found in Additional file7.
e invitation was sent by e-mail to 63 prospective par-
ticipants, of whom 33 of responded (response rate 52%).
Due to the anonymity of the survey, no further informa-
tion about the participants is available.
e results of the post-survey show that a total of 61%
of the votes were received for main category A “Patient-
guided documentation and data collection” and 39% of
the votes for main category B “Exchange of experience
and networking”. An overview of the voting is shown in
Requirement analysis workshop
Ten of the 19 invited participants attended in the work-
shop. ey were able to define 10 user stories (visualised
as story cards), which are shown in Fig.5. If they referred
to specific RDs, this information was anonymized for
data protection reasons (anonymous terms are capital-
ised e.g. PATIENT).
Six common requirements for the digital application
were defined, as shown in Table3.
e motivation for this study was to define the project
objectives and topics of the SelEe project, which should
be implemented by using a digital application. is study
offers insights into the challenges and needs related to
RDs and provides ideas for a digital application that
might offer direct added value to RD affected people.
Discussion ofmethods
CS is often interpreted and implemented in different
ways. ere are a variety of approaches and no gener-
ally accepted definition [25, 26]. Particularly, there is still
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limited literature and best practices on the methodology
of involving citizens in medical (informatics) projects
[27, 28], especially in the context of RDs [29]. Heyen etal.
published initial recommendations in a previous CS pro-
ject in the field of RDs, which were taken into account in
the study design [30]. In addition multi-step approaches
for defining a digital application through user-centred
design (UCD) have already been implemented in CS in
other domains [31] and considered for this project.
e study design of SelEe is based on the mentioned
considerations, as well as on specifically described cri-
teria of the established methods of focus groups, quali-
tative content analysis and user stories [13, 17, 24].
However, focus groups and workshops conducted in a
virtual format have shown benefits in terms of diversity
of participants and reaching less healthy populations who
are unable to travel [32, 33]. ey therefore represent a
promising option for this project.
In summary, the methodological approach of this study
can be adopted by other researchers who want to develop
digital applications in a specific area of healthcare and
(medical) informatics by addressing the needs of stake-
holders not previously considered.
Discussion ofresults
e results of the pre-survey showed a wide range of sug-
gested disease groups and distinct RDs, as well as the
need for further research in the field of RDs. Despite the
broad spectrum, participants described similar experi-
ences in their justifications for the suggestion, which
can already be found in the literature [34], e.g. in the
EURORDIS list [7]. Based on these findings, SelEe will
not focus on a specific RD or disease group but intends
to address the common challenges mentioned by the
study participants. e idea is to collaboratively develop
and provide a digital application for data collection, using
selected RDs as specific examples. As exemplary diseases,
the project will focus on RDs from the TOP4 of the pre-
survey and cooperate with corresponding patient organi-
sations. In this case, the project is highly dependent on
the participation of citizens in the further process. e
adaptability of the digital application for additional RDs
will ensure a view of all RDs and their commonalities.
With regard to the second research question, the fol-
lowing project topic was formulated as a result of the
focus groups and confirmation through the post-survey:
‘Documentation support for a patient-managed record,
including an overview of medical and social care and
providing a basis for exchange and networking with med-
ical professionals’. e proposed topic could address the
problems already mentioned, such as the lack of informa-
tion and scientific knowledge due to insufficient data and
research [34] and facilitate data collection on many RD
Following the topic definition, the requirements work-
shop allowed to consider the third research question.
In addition to the individual user stories, overarching
requirements were defined. e most important function
of the digital application is the daily and retrospective
recording of parameters (e.g. from a diagnostic report),
Fig. 4 Voting on topics in post-survey
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which can be selected or additionally defined for the spe-
cific RD by those affected. According to our research and
knowledge, we are not aware of any digital application
that implements our project topic and offers the devel-
oped functionalities across several different RDs. Cur-
rently existing CS systems are placed in other fields of
Fig. 5 Story cards of RD-affected persons
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human medicine [10]. Regardless of the CS character,
disease-specific apps can be found [3541], apps and
websites that refer people to health care providers [42,
43], apps for sharing experiences and networking [44,
45], a symptom checker [46], information and support
apps for RD-affected persons [47, 48]. Some of these apps
are available in English only.
In the next phase of SelEe, the gathered requirements
will be further developed in close collaboration with citi-
zens and will serve to answer research questions in the
field of RDs, which will be defined collaboratively. Fur-
ther studies are needed in the course of the project to
investigate these questions, as well as the added value of
the digital application for RD-affected persons. Following
an initial data collection in the DACH region (Germany,
Austria, Switzerland), the project idea is to be expanded
to Europe and beyond, e.g. in cooperation with the Euro-
pean Citizen Science Association and EURORDIS. In
this context, data protection aspects of the individual
countries, further language options and consent must be
taken into account.
is study followed a qualitative approach, which refers
to a specific target group (patients and relatives), deals
with a specific topic area of RDs and is currently limited
to Germany.
e involvement of any citizens such as interested per-
sons is still limited in the initial phase of the project. In
the following phase of SelEe, citizens can get involved
and participate in different ways, e.g. in analysing the col-
lected data.
is study suggests that there remains a need for research
in the field of RDs, many open challenges and a need for
the development of digital support applications for RDs,
especially in the overall consideration of commonalities
and in common solutions for the support of RDs. e
multi-step approach allowed gathering project topics and
requirements to a digital application which can be used
by patients with RDs.
ACHSE: Alliance of Chronic Diseases; BMBF: Federal Ministry of Education and
Research; CS: Citizen Science; EHR: Electronic Health Record; IISYS: Institute for
Information Systems; IMI: Institute of Medical Informatics; RD: Rare Disease;
SRQR: Standards for Reporting Qualitative Research; SelEe: Researching rare
diseases in a citizen science approach; UCD: User-Centred Design.
Supplementary Information
The online version contains supplementary material available at https:// doi.
org/ 10. 1186/ s13023- 022- 02514-3.
Additional le1: SRQR guideline.
Additional le2: Pre survey questionnaire.
Additional le3: Focus group interview guideline.
Additional le4: Post survey questionnaire.
Additional le5: Suggested disease groups.
Additional le6: Transcript citations and translation.
Additional le7: Topic prioritization.
We would like to thank all study participants for conducting and supporting
this study and ACHSE e.V. for its support, especially Christine Mundlos, Lisa
Biehl and Florence von Bodisco.
Author contributions
MN and JaS designed the study and formulated the research questions. The
study was performed by MN and JaS, as well as the data analysis. Results of
the study were discussed between all authors. The translation from German
to English language in the context of this study was performed by MN and
Table 3 Requirements for the SelEe digital application
No Requirement Description
1 Daily and retrospective data acquisition Simple, accessible entry of daily updated data (e.g., health status, experiences, symptoms, medi-
cation) as well as retrospective data (e.g., laboratory results, doctor’s letters)
2 Documentation of one or multiple symptom(s) Possibility of documenting 1 symptom at regular intervals, using a configurable template that
defines the parameter to be recorded
3 Visual representation of data Graphical display of data (e.g., symptoms), e.g., as a representation of the long-term trend
4 Printout of documentation Possibility to print the recorded documentation as a report
5 Export of data Export of the collected data in various digital formats, preferably in a format that is easy to use for
medical professionals
6 Support in recognizing correlations and pat-
terns (together with medical professionals) Possibility to recognize patterns and correlations in the symptoms, e.g., that one parameter
always occurs at a certain time interval after another parameter. This should be enabled by a
compact visual representation of the parameters e.g., by plotting parameters together over time.
Interpretations should be possible by the RD-affected person together with medical profession-
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Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
checked by JaS and JV. The first draft of this publication was written by MN
and JaS, whereas all authors provided valuable input. The final manuscript was
written by MN and approved by all authors.
Open Access funding enabled and organized by Projekt DEAL. SelEe is funded
by the German Federal Ministry of Education and Research from 2021 to 2024
(BMBF – FKZ 01BF2112A, 01BF2112B).
Availability of data and materials
The ethics approval and consent for this study preclude the sharing of the raw
Ethics approval and consent to participate
Ethics approval was obtained from the Ethics Board of the Goethe University
Frankfurt, University Hospital Frankfurt (2021-272) and all study participants
have given informed consent to participate.
Consent for publication
Not applicable.
Competing interests
The authors declare that they have no competing interests.
Author details
1 Institute of Medical Informatics, Goethe University Frankfurt, University Hospi-
tal, Frankfurt am Main, Germany. 2 Institute for Information Systems, University
of Applied Sciences Hof, Hof, Germany.
Received: 10 June 2022 Accepted: 4 September 2022
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Full-text available
Citizen science allows involving interested citizen in the entire research process in science. In the past, various citizen science projects have been performed in different research fields, especially in human medicine. We conducted a rapid scoping review to determine which citizen projects in human medicine already used software-based systems to engage citizens in the research process. Furthermore, we analysed which of the software-systems are publicly available, especially in the field of rare diseases, how citizens can participate using those tools and whether the usability was rated by the participants. To get insights for our project “SelEe (Seltene Erkrankungen bürgerwissenschaftlich erforschen)”, which is a citizen science project in rare diseases funded by the Federal Ministry of Education and Research (BMBF), we aimed to identify projects in this research area. We searched PubMed for articles between 2011 and 2021 and performed a title- and abstract screening, as well as a full-text screening. Finally, 12 studies were identified in different research areas like public health, genetic research and infectious diseases. We could not identify any study directly associated with rare diseases. None of the studies investigated usability of those systems. Furthermore, five publicly available citizen science software-systems were identified. Three of them are general systems that allow creating, operating, managing citizen science projects and including citizens in the research process. In further investigations, we will check and compare these systems, if they are appropriate for use in our SelEe-project.
Full-text available
Zusammenfassung Eine Erkrankung zählt in der Europäischen Union zu den Seltenen Erkrankungen (SE), wenn diese nicht mehr als 5 von 10.000 Menschen betrifft. Derzeit existiert mit mehr als 6000 SE eine sowohl große als auch heterogene Menge an unterschiedlichen Krankheitsbilder, die in ihrer Symptomatik komplex, vielschichtig und damit im medizinischen Alltag schwierig einzuordnen sind. Dies erschwert Diagnosefindung und Behandlung sowie das Auffinden eines passenden Ansprechpartners, da es nur wenige Experten für jede einzelne SE gibt. Der medizinische Versorgungsatlas für Seltene Erkrankungen ermöglicht anhand von Erkrankungsnamen die Suche nach Versorgungseinrichtungen und Selbsthilfeorganisationen zu bestimmten SE und stellt die Suchergebnisse geografisch dar. Ebenso gibt er einen Überblick über alle deutschen Zentren für SE, die eine Anlaufstelle für betroffene Personen mit unklarer Diagnose darstellen. Der se-atlas dient als Kompass durch die heterogene Menge an Informationen über Versorgungseinrichtungen für SE und stellt niederschwellig Informationen für eine breite Nutzergruppe von Betroffenen bis hin zu Mitgliedern des medizinischen Versorgungsteams bereit.
Full-text available
Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.
Full-text available
Background Rare disease communities are spread around the globe and segmented by their condition. Little research has been performed on the majority of rare diseases. Most patients who are affected by a rare disease have no research on their condition because of a lack of knowledge due to absence of common groups in the research community. Objective We aimed to develop a safe and secure community of rare disease patients, without geographic or language barriers, to promote research. Methods Cocreation design methodology was applied to build Share4Rare, with consultation and input through workshops from a variety of stakeholders (patients, caregivers, clinicians, and researchers). ResultsThe workshops allowed us to develop a layered version of the platform based on educating patients and caregivers with publicly accessible information, a secure community for the patients and caregivers, and a research section with the purpose of collecting patient information for analysis, which was the core and final value of the platform. Conclusions Rare disease research requires global collaboration in which patients and caregivers have key roles. Collective intelligence methods implemented in digital platforms reduce geographic and language boundaries and involve patients in a unique and universal project. Their contributions are essential to increase the amount of scientific knowledge that experts have on rare diseases. Share4Rare has been designed as a global platform to facilitate the donation of clinical information to foster research that matters to patients with rare conditions. The codesign methods with patients have been essential to create a patient-centric design.
Full-text available
Background For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that are associated with RD patients’ misdiagnosis. The objective of this study is to analyze data from a national survey among 2040 RD patients from China to explore the association between misdiagnosis and various factors, including patients’ demographics, socio-economic status, medical history, and their accessibility to RD information. Results Three binary logistic regression analyses were performed to assess the relationships between misdiagnosis and level of rarity of the RDs (mild, moderate, and severe), demographics, health insurance levels, and accessibility to disease-related information by using the total sample, and the adult and non-adult sub-samples. We found that accessibility to RD information is the most critical factor influencing the patients’ chances of being misdiagnosed (odds ratio [OR] = 4.459, p < 0.001). In other words, the greater the difficulty in accessing the information on RD management, the higher the possibility of experiencing misdiagnosis. Such influences of information accessibility on misdiagnosis were repeatedly discovered when examining the adult (OR = 3.732, p < 0.001) and the non-adult (OR = 5.174, p < 0.001) sub-samples. The association between perceived economic status and misdiagnosis was only significant in the total sample. The only other factor significantly associated with misdiagnosis was disease multimorbidity: participants who reported no multimorbidity are less likely to experience misdiagnosis (OR = 0.42, p < 0.001). Conclusions Our study indicated that patients with RDs who have difficulty in accessing disease-related information are two to five times more likely to have experienced misdiagnosis. Even after adjusting for the patients’ age, gender, economic levels, and education levels, the impact of information accessibility was still significant. Our finding highlights the importance of access to information in reducing misdiagnosis among RD patients.
Full-text available
This qualitative review explores how established citizen science models can inform and support meaningful engagement of public in health research in Australia. In particular, with the growth in participatory health research approaches and increasing consumer participation in contributing to this research through digital technologies, there are gaps in our understanding of best practice in health and biomedical citizen science research to address these paradigm shifts. Notable gaps are how we might more clearly define the parameters of such research and which citizen science models might best support digitally-enabled participation falling within these. Further work in this area is expected to lead to how established citizen science methods may help improve the quality of and the translation of public engagement in health research.
Full-text available
This commentary explores how established citizen science models can inform and support meaningful engagement of the public in health research in Australia. In particular, with the growth in participatory health research approaches and increasing consumer participation in contributing to this research through digital technologies, there are gaps in our understanding of best practice in health and biomedical citizen science research to address these paradigm shifts. Notable gaps are how we might more clearly define the parameters of such research and which citizen science models might best support digitally-enabled participation falling within these. Further work in this area is expected to lead to how established citizen science methods may help improve the quality of and the translation of public engagement in health research.
Conference Paper
Intro The PBC Foundation is a UK-based patient support organisation which supports patients with PBC in over 75 countries, affected by Primary Biliary Cholangitis (PBC). The PBC Foundation has developed a self-management App to conduct surveys to anonymously record Patient Recorded Outcome Measurements (PROMS) and Patient Recorded Experience Measures (PREMS). This App went live in 2019 with patients from 20 different countries registered and over 3200 downloads.The aim of this study is to report the early aggregate findings of the first surveys conducted through the App and provide future directions on how this may be utilised in improving PBC patient care. Methods In Nov 2019, we set two App-based surveys. The surveys have n= 189 and n= 171, respectively. Results We found, firstly, that age has an impact upon the quality of care experienced by PBC patients. We asked patients, ‘If, for any reason, you have not fully responded to Urso, have you been offered an additional second-line treatment?’ The answer varied between age groups:31–40 yrs, 31% no: 41–50 yrs, 47% no: 51–60 yrs, 54% no: 61–70 yrs, 48%no: 70+yrs, 83% no, with an overall rate of 49.5% no. We also asked, ‘If, for any reason, you have not fully responded to Urso, has your clinician discussed second-line treatments with you?’ Again, the answers were low at baseline, and correlated with patient age: 31–40 yrs, 27% no: 41–50 yrs, 38% no: 51–60 yrs, 46% no: 61–70 yrs, 45% no: 70+yrs, 50% no, with an overall rate of 41.5% no. In terms of symptom management, one factor that appears to impact upon the patient experience is whether they see a gastroenterologist or a hepatologist. We asked, ‘Has your clinician offered any advice or treatments to manage your fatigue. Interestingly, only 12.7% of patients experienced no fatigue. Of the 87.3% who did experience fatigue, only 17% of Gastro patients and 23% of Hep patients answered, ‘yes.’ When asked, ‘Has your clinician offered any advice or treatment to manage your itch?’ 67% of Gastro patients and 47% of Hep patients said yes. Conclusions The data strongly suggests that there is significant unmet need, in terms of both disease management and symptom management, in PBC patients: particularly in those patients most in need of clinical intervention. The PBC Foundation App surveys provide useful insights into issues prevalent in the care of patients.