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

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 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.

Full text

Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
https://doi.org/10.1186/s13023-022-02514-3
RESEARCH
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
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
© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which
permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the
original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or
other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line
to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory
regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this
licence, visit http:// creat iveco mmons. org/ licen ses/ by/4. 0/. The Creative Commons Public Domain Dedication waiver (http:// creat iveco
mmons. org/ publi cdoma in/ zero/1. 0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Background
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 [3–5].
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
*Correspondence: michaelachristina.neff@kgu.de
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

Page 2 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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
expansion.
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.
Methods
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.
Pre‑survey
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
person,
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
[12].
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 [13–15].
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

Page 3 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
Fig. 1 Steps of the study’s multi-step approach

Page 4 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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.
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
participation.
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 [22–24]: 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.
Results
Pre‑survey
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?

Page 5 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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
collection
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

Page 6 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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.
(S9)
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
(symptoms/
complaints)
II. Digizaon and
simplificaon of
(handwrien)
documentaon
III. Collecon of
electronic data from
paents with rare
diseases for research
purposes
IV. Collecon of data
on social and medical
care through paent-
iniated surveys
B: Exchange of
experience and
networking
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
professionalsand
service provider
II. Informaon
material for those
affected in medical
pracces
III. Improvement and
standardizaon of
guidelines
Fig. 3 Results from category formation

Page 7 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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 […].
(S5)
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.
Post‑survey
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
Fig.4.
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.
Discussion
Overview
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

Page 8 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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
patients.
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

Page 9 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
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

Page 10 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
human medicine [10]. Regardless of the CS character,
disease-specific apps can be found [35–41], 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.
Limitations
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.
Conclusion
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.
Abbreviations
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.
Acknowledgements
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-
als

Page 11 of 12
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.
Funding
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
data.
Declarations
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
References
1. COM. Council Recommendation (EU) of 8 June 2009 on an action in the
field of rare diseases. 2009. Available from: https:// eur- lex. europa. eu/
legal- conte nt/ EN/ ALL/? uri= celex: 32009 H0703 (02). Accessed 01 June
2022.
2. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lan-
neau V, et al. Estimating cumulative point prevalence of rare diseases:
analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73.
3. Institute of Medicine (US) Committee on Accelerating Rare Diseases
Research and Orphan Product Development; Field MJ, Boat TF, editors.
Profile of Rare Diseases. Rare Dis Orphan Prod Accel Res Dev . Washing-
ton (DC): National Academies Press (US); 2010. p. 41–72. Available from:
https:// www. ncbi. nlm. nih. gov/ books/ NBK56 184/. Accessed 29 Mar 2022.
4. Dong D, Chung RY-N, Chan RHW, Gong S, Xu RH. Why is misdiagnosis
more likely among some people with rare diseases than others? Insights
from a population-based cross-sectional study in China. Orphanet J Rare
Dis. 2020;15:307.
5. Aymé S, Schmidtke J. Networking for rare diseases: a necessity for Europe.
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz.
2007;50:1477–83.
6. Budych K, Helms TM, Schultz C. How do patients with rare diseases expe-
rience the medical encounter? Exploring role behavior and its impact on
patient–physician interaction. Health Policy. 2012;105:154–64.
7. EURORDIS. Rare Diseases: understanding this Public Health Priority.
2005. Available from: http:// beta. euror dis. org/ IMG/ pdf/ princ eps_ docum
ent- EN. pdf. Accessed 01 June 2022.
8. Haklay M. Citizen science and volunteered geographic information:
overview and typology of participation. In: Sui D, Elwood S, Goodchild M,
editors. Crowdsourcing geographic knowledge: volunteered geographic
information (VGI) in theory and practice. Dordrecht: Springer; 2013. p.
105–22. https:// doi. org/ 10. 1007/ 978- 94- 007- 4587-2_7.
9. Team SelEe. SelEe – Seltene Erkrankungen bürgerwissenschaftlich erfor-
schen!.Available from: https:// www. selee. de/. Accessed 01 June 2022.
10. Schaaf J, Neff M, Scheidt J, Steglich M, Storf H. Citizen science in human
medicine and the use of software-systems: a rapid scoping review. Stud
Health Technol Inform. 2021;283:172–9.
11. O’Brien BC, Harris IB, Beckman TJ, Reed DA, Cook DA. Standards for report-
ing qualitative research: a synthesis of recommendations. Acad Med J
Assoc Am Med Coll. 2014;89:1245–51.
12. INSERM. Orphanet: an online rare disease and orphan drug data base.
1999. Available from: https:// www. orpha. net/. Accessed 01 June 2022.
13. Schulz, M., Mack, B., & Renn, O. Fokusgruppen in der empirischen
Sozialwissen-schaft - Von der Konzeption bis zur Auswertung. Springer
VS; 2012. Available from: https:// doi. org/ 10. 1007/ 978-3- 531- 19397-7
14. Schulz M. Quick and easy⁉ Fokusgruppen in der angewandten Sozi-
alwissenschaft. In: Schulz M, Mack B, Renn O, editors. Fokusgruppen
Empirischen Sozialwissenschaft Von Konzept Bis Zur Auswert [Internet].
Wiesbaden: VS Verlag für Sozialwissenschaften; 2012. p. 9–22. Available
from: https:// doi. org/ 10. 1007/ 978-3- 531- 19397-7_1
15. Wong LP. Focus group discussion: a tool for health and medical research.
Singapore Med J. 2008;49:256–60 (quiz 261).
16. Mentimeter AB (publ). Create Live Word Clouds. Mentimeter. Available
from: https:// www. menti meter. com/ featu res/ word- cloud
17. Kuckar tz U. Qualitative evaluation: Der Einstieg in die Praxis. 2md ed.
Hamburg: VS-Verlag; 2008.
18. Kuckar tz U. Qualitative Text Analysis: A Guide to Methods, Practice &
Using Software. London; 2022. Available from: https:// metho ds. sagep ub.
com/ book/ quali tative- text- analy sis
19. Schreier M. Varianten qualitativer Inhaltsanalyse. Ein Wegweiser im Dick-
icht der Begrifflichkeiten. Forum Qual Sozialforschung. 2014;15.
20. LimeSurvey Project Team / Carsten Schmitz. LimeSurvey: An Open Source
survey tool. Hamburg, Germany: LimeSurvey Project; 2012. Available
from: http:// www. limes urvey. org
21. Bik N, Lucassen G, Brinkkemper S. A Reference Method for User Story
Requirements in Agile Systems Development. 2017 IEEE 25th Int Requir
Eng Conf Workshop REW. 2017. p. 292–8.
22. Bourque P, Dupuis R, Abran A, Moore JW, Tripp L. The guide to the soft-
ware engineering body of knowledge. IEEE Softw. 1999;16:35–44.
23. Ecar M, Kepler F, da Silva JPS. Cosmic user story standard. In: Garbajosa J,
Wang X, Aguiar A, editors. Agile processes in software engineering and
extreme programming. Cham: Springer; 2018. p. 3–18.
24. Cohn M. User stories applied: for agile software development. Boston:
Addison Wesley Longman; 2004.
25. Heigl F, Kieslinger B, Paul KT, Uhlik J, Dörler D. Opinion: toward an
international definition of citizen science. Proc Natl Acad Sci USA.
2019;116:8089–92.
26. Borda A, Gray K, Downie L. Citizen science models in health research: an
Australian commentary. Online J Public Health Inform. 2019;11: e23.
27. Lipson-Smith R, White F, White A, Serong L, Cooper G, Price-Bell G, et al.
Co-design of a consultation audio-recording mobile app for people with
cancer: the SecondEars app. JMIR Form Res. 2019;3: e11111.
28. Peters D, Davis S, Calvo RA, Sawyer SM, Smith L, Foster JM. Young people’s
preferences for an asthma self-management app highlight psychological
needs: a participatory study. J Med Internet Res. 2017;19: e113.
29. Radu R, Hernández-Ortega S, Borrega O, Palmeri A, Athanasiou D, Brooke
N, et al. Global collaborative social network (Share4Rare) to promote
citizen science in rare disease research: platform development study.
JMIR Form Res. 2021;5: e22695.
30. Heyen, Nils B.; Gardecki, Johanna; Bratan, Tanja; Eickmeier, Olaf; Eidt-Koch,
Daniela;, P., Sophie; Wagner, Thomas. Patient Science als bürgerwissen-
schaftliches Format: Erkenntnisse aus dem Pilotprojekt und Empfehlun-
gen für zukünftige Projekte. Karlsruhe und Frankfurt/M: Fraunhofer ISI
und Universitätsklinikum Frankfurt/M; 2021. Available from: https:// www.
muko. info/ filea dmin/ user_ upload/ angeb ote/ patie nt_ scien ce/ Patie nt-
Scien ce_ Empfe hlung spapi er_ 2021. pdf
31. Golumbic YN, Fishbain B, Baram-Tsabari A. User centered design of
a citizen science air-quality monitoring project. Int J Sci Educ Part B.
2019;9:195–213.
32. Rupert DJ, Poehlman JA, Hayes JJ, Ray SE, Moultrie RR. Virtual versus in-
person focus groups: comparison of costs, recruitment, and participant
logistics. J Med Internet Res. 2017;19: e80.
33. Dos Santos Marques IC, Theiss LM, Johnson CY, McLin E, Ruf BA, Vickers
SM, et al. Implementation of virtual focus groups for qualitative data col-
lection in a global pandemic. Am J Surg. 2021;221:918–22.

Page 12 of 12
Neetal. Orphanet Journal of Rare Diseases (2022) 17:357
•
fast, convenient online submission
•
thorough peer review by experienced researchers in your field
•
rapid publication on acceptance
•
support for research data, including large and complex data types
•
gold Open Access which fosters wider collaboration and increased citations
maximum visibility for your research: over 100M website views per year
•
At BMC, research is always in progress.
Learn more biomedcentral.com/submissions
Ready to submit your research
Ready to submit your research
? Choose BMC and benefit from:
? Choose BMC and benefit from:
34. Knight AW, Senior TP. The common problem of rare disease in general
practice. Med J Aust Australia. 2006;185:82–3.
35. Rare Cancers Australia. CANrecall. Available from: https:// www. rarec anc-
ers. org. au/ page/ 83/ canre call- app
36. Takeda Pharmaceuticals International AG. Mein Morbus Gaucher. Avail-
able from: https:// apps. apple. com/ de/ app/ mein- morbus- gauch er/ id144
14631 82
37. Fuchs, C.; Buchner, S. eFlow technology nebulisers with digital therapy
management: the pari connect eco-system. Frederick Furness Publishing
Ltd. 2019. Available from: https:// www. ondru gdeli very. com/ wp- conte nt/
uploa ds/ 2021/ 12/ 128_ 2021_ Dec_ Conne cting_ Drug_ Deliv ery_ PARI. pdf
38. Will Jamieson. SPARC – Sarcoidosis Toolkit. Available from: https:// apps.
apple. com/ de/ app/ sparc- sarco idosis- toolk it/ id159 14755 34? platf orm=
iphone
39. Mito Action. Mito Action Mobile. Available from: https:// www. mitoa ction.
org/ mobile_ new/
40. Mitchell-Thain R, Yeoman A, Hegade V. O70 Patient reported experiences
through PBC foundation app: what impacts upon a PBC patient’s experi-
ence? Gut BMJ Publishing Group. 2021;70:A39–A39.
41. Hiew S. CAN.recall. Lancet Oncol. 2016;17:564.
42. Neff M, Schaaf J, Tegtbauer N, Schäfer J, Till M, Wagner T, et al. se-atlas.
de-Medical care atlas for people with rare diseases. Internist. 2021;62.
43. Paglialonga A, Gaetano R, Robert L, Hurard M, Botella L, Barr N, et al.
eHealth for patients with rare diseases: the eHealth Working Group of the
European Reference Network on Rare Multisystemic Vascular Diseases
(VASCERN). Orphanet J Rare Dis. 2021;16.
44. Rare Disease Foundation. Rare Finds Mobile App. Available from: https://
rared iseas efoun dation. org/ pages/ rare- finds- mobile- app
45. Rare Guru Inc. RareGuru Mobile App. Available from: https:// rareg uru.
com/
46. Ronicke S, Hirsch MC, Türk E, Larionov K, Tientcheu D, Wagner AD. Can a
decision support system accelerate rare disease diagnosis? Evaluating the
potential impact of Ada DX in a retrospective study. Orphanet J Rare Dis.
2019;14:69.
47. Patricia Ontoria. “Dravet Dream” for Dravet Foundation. 2022. Available
from: https:// dewira. artst ation. com/ proje cts/ xzP48Y
48. van Karnebeek CDM, Houben RFA, Lafek M, Giannasi W, Stockler S. The
treatable intellectual disability APP www.treatable-id.org: a digital tool to
enhance diagnosis & care for rare diseases. Orphanet J Rare Dis. 2012;7:47.
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in pub-
lished maps and institutional affiliations.