Citizen Science in Human Medicine and
the Use of Software-Systems: A Rapid
Jannik SCHAAFa,1, Michaela NEFFa, Joerg SCHEIDTb, Michael STEGLICHb,
and Holger STORFa
a Medical Informatics Group, University Hospital Frankfurt,
Institute of Information Systems, University of Applied Sciences Hof,
Abstract. 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.
Keywords. Citizen Science, Scoping Review, Rare Diseases
“Citizen science" projects allow citizens without any knowledge in sciences or the
scientific process to participate in scientific projects by formulating research questions,
performing observations and measurements, as well as evaluating and publishing data
. In the last 20 years, citizen science has developed as an instrument that makes it
possible to involve citizens in improving scientific knowledge and goals. The use of
Corresponding Author, Jannik Schaaf, Medical Informatics Group, University Hospital Frankfurt,
Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany; E-mail: email@example.com
German Medical Data Sciences 2021: Digital Medicine: Recognize - Understand - Heal
R. Röhrig et al. (Eds.)
© 2021 The authors and IOS Press.
This article is published online with Open Access by IOS Press and distributed under the terms
of the Creative Commons Attribution Non-Commercial License 4.0 (CC BY-NC 4.0).
citizen science is becoming increasingly popular and is not limited to any scientific field
. Therefore, various examples of applications in human medicine are also available,
e.g. in the research of COVID-19 [3, 4, 5]. The growth of citizen science projects is also
supported by the increasing use of websites or mobile applications that allow citizens to
collectively contribute, analyse or publish results .
In Germany, the Federal Ministry of Education and Research (BMBF) is funding 15
different citizen science projects, starting in 2021. In this initiative, four projects are
being funded in the field of human medicine . One of these projects is “SelEe: Seltene
Erkrankungen bürgerwissenschaftlich erforschen” (www.selee.de), with the aim of
including citizens in the research of rare diseases (RDs). Since only a small part of the
population is affected by RDs and knowledge about these diseases is often low, citizen
science projects are one possibility to improve research knowledge in this area [8, 9].
Within the SelEe-project, citizens from Germany will be involved in the entire research
process. They can actively shape the selection of RDs that should be studied in the project
and formulate research objectives. All data and information in the project will be
collected and made available via an online-based platform called “SelEe citizen science
platform”, in which citizens can participate.
Despite the overall increasing number of software-based systems like web-
applications and mobile-apps , we are not aware of any reviews about developments
and current systems used in the context of citizen science in human medicine. Therefore,
the objectives of this study were to perform a rapid scoping review to give interested
researchers in citizen science an overview of (1) which studies are available using
software-based systems in human medicine citizen science projects and if were in the
field of rare diseases. Furthermore, we investigated (2) which systems are available (e.g.
as open-source software) and (3) how citizens can participate using those tools.
Furthermore (4) it was of interest whether the usability of those systems were rated by
The reporting of this scoping review complies with PRISMA-ScR (Preferred Reporting
Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews). We
considered 19 out of 22 PRISMA-ScR items. Two items were optional, another item,
which is about study-registration, was not considered, since the study was not registered
online . We searched PubMed for peer-reviewed articles from March 07, 2011
through March 07, 2021. Keywords for the search were derived through an initial search
and authors’ experience. The result was a set of keywords including “citizen science”,
“software” and “rare diseases”, using MeSH-terms (Medical Subject Headings) and non-
MeSH terms. This results in a final search query, shown in Table 1.
Table 1. Final query of the entire search
(Citizen Science[MeSH Terms] AND Software [MeSH Terms])
OR (Citizen Science[MeSH Terms] AND Rare Diseases [MeSH Terms])
OR ((Citizen Science) AND Software)
OR ((Citizen Science) AND rare diseases)
In accordance to PRISMA-ScR, we performed two screening rounds to select
publications: a screening based on bibliographic data and a full-text screening. In the
first screening round, publications were included if they contained a peer-reviewed
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems 173
article and/or conference proceedings written in English with an available abstract.
Publications were only included if a citizen science project in human medicine was
described where citizens could interact and participate in the project. Articles about other
sciences, e.g. ecology or animal biology, were excluded. The full-text publications were
screened where accessible, if the articles described the use of software-systems in the
citizen science project. In both screening rounds, the screening was performed by one
and compared by another author. To analyse and present the results (called data charting
in scoping reviews), we defined the following data items and linked them to our research
questions: “study/aim (1)”, “research area” (1), rare diseases (1), “software availability
(2)”, “software type (2)”, “citizen participation (3)” and “usability checked (4)”
The search identified 85 articles in PubMed (shown in Figure 1). As there were no
duplicates, the 85 were used for title and abstract screening. In this context, 60 articles
were excluded and 25 were considered as further relevant. This number was further
reduced because full text was not accessible for 5 articles. After assessing the eligibility
of the remaining 20 articles, 8 articles were excluded because they did not describe a
software-system in the context of citizen science in human medicine. Therefore, 12
articles were identified for further analysis, as shown in Table 2.
Figure 1. PRISMA-ScR flow diagram
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems174
Table 2. Results of the qualitative synthesis
Citizen participation Usability
 Caputo et al.:
nuisance in Italy
ZanaMapp, a mobile app that
allows users to answer questions
about mosquito presence,
abundance and nuisance, as well
 Ulahannan et
al.: Open data
distributed and interpreted data on
a COVID-19 web-platform:
 Hartshorne et
al.: Pushkin, an
Sharing experiments data, provide
personal feedback and discuss in
forums. Own script language for
 Vicens et al.:
Platform to assist
the deployment of
Collect decision of participants
while interacting with virtual real-
life situations in a computer-game.
 Wang et al.:
Provision of a
projects can be
The entry of citizen-based data is
supported by a meta-data model
approach to standardize the data
 Klepac et al.:
experiment in UK
to study outbreaks
Use of a smartphone app, which
records volunteers’ movements
and allows submitting self-
 Candido Dos
Reis et al.: Cell
Slider is a project,
where citizens can
based on images
of breast cancer
Oncology Access to a web-platform
training of scoring tumors, scoring
of images based on closed
 Meakin et al.:
Anatomy Citizens were recruited via social
media. They used an image dataset
and segmentation data which
includes images of magnetic
 McGehee et
al.: Protein folding
via a visual
simulator used by
Citizens can use the software
Polyfold to visually simulate the
distance-based protein folding
process without any knowledge in
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems 175
Citizen participation Usability
 Kawrykow et
al.: To improve
Phylo is a web-based game that
allows citizen scientists to support
the multiple sequence alignments
in the research of genetic diseases.
 Tuckett et al.:
activity in older
Public health Citizens used a mobile web app
with the goal to geocode photos
and to create audio narratives of
their physical environment (e.g.
parks, playgrounds or crosswalks).
Citizens use the results to advocate
for improvements regarding
physical activity in their
 Sheats et al.:
to use a mobile
app to assess and
Public health Usage of a mobile app to collect
data (geocoded photos, audio
narratives) about aspects of their
environment that promote or
inhibit healthy nutrition. Citizens
use the results to advocate for
improvements regarding healthy
food in their community.
Our scoping review is the first to summarize the evidence of citizen science projects in
human medicine, where citizens can participate in the projects by using software-based
systems. Regarding to research question (1), we identified 12 relevant studies between
2011 and 2021. The results show that the studies are from different research areas.
However, several studies are available in the field of public health, genetic research and
infectious diseases [3, 4, 14, 18-21]. There were no studies available in the field of RD’s.
We identified “citizen science software” that are available for usage in citizen
science projects (research question 2), for example to administer projects or to involve
citizens [12-14]. These tools allow researchers of citizen science projects to create and
operate platforms for their project at an early stage. While the systems of Hartsthorne et
al.  and Vicens et al.  are open-source and thus individually expandable, Wang
et al.  only provides an online platform where their own citizen projects can be started.
In addition, there are two other studies that make their source code publicly available [4,
18]. In summary, only 5 of 12 software-systems are publicly available. The majority of
the studies (10 of 12) allow participation via mobile apps or web applications. Only two
systems are desktop software.
Regarding citizen participation in the studies (research question 3), it can be stated
that the identified projects allow different participation possibilities, from the creation of
one’s own research data to the active evaluation and discussion of the data. However,
this publication did not investigated how many citizens used the software and whether
research questions were able to be answered using those systems. For the SelEe project,
the existing systems must be checked for their applicability. These selection process will
take place together with the participating citizens. They will define requirements to those
systems and then it is checked whether the systems fit these requirements. In a next step,
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems176
we will conduct a focus group in which the systems are presented and the participants
vote on which system will be used in the project.
Concerning research question 4, the studies identified in this review focus on the
evaluation of their research questions in their research area, but did not investigate the
acceptance by the user or usability of their tools. This may have an impact on the research
results created by citizens and should be investigated in further studies. However, there
are studies outside the medical environment available, which make clear, that the
inclusion of the user in an early stage of the project is necessary to increase success and
acceptance . Therefore, a user-centred design approach could be a possibility to
allow the participation of citizen in the design of the software and not just in the research
process [23, 24]. Hence, we derive this user-centricity as an essential criterion in the
implementation for our SelEe-project.
This work provides a broad overview of 12 software-systems to support the citizen
science process in the medical area. In other science domains, there could be further
suitable systems. Furthermore, not every system could be explained in detail. For
example, no further technical details were omitted. Nevertheless, future studies can use
this as a basis to carry out more detailed investigations, e.g. if data could be exported
into statistic software-systems. However, the data collection of this review was limited
to PubMed and not published literature was not covered. Additionally, the study selection
and data charting were only performed by one author, but results in any phase of the
study were approved by all authors. Furthermore, as mentioned above, we could not
identify any evidence of RDs projects in citizen science in this review. Due to the fact
that 5 articles were excluded because of missing full-text, this could have an impact on
the completeness of this review. In addition, we do not address the risk of bias. However,
the use of a high methodological standard with PRISMA-ScR could minimize a possible
bias across the study.
In this review, we summarized the literature of citizen science projects in human
medicine between 2011 and 2021. Our study provides insights of how citizens were
involved by using software-based systems and we identified software-systems in each
citizen science project to manage projects and involve citizens.
Conflict of Interest: The authors declare that there is no conflict of interest.
Acknowledgement: This work was supported by the German Federal Ministry of
Education and Research (BMBF – FKZ 01BF2112A, 01BF2112B).
Author contributions: JAS and MN designed the review, formulated research questions
and performed study selection as well as data analysis. The results of this scoping review
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems 177
were summarized and reported by JAS and reviewed by MN. JS, HS and MS revised the
article. The final manuscript was written by JAS and approved by all authors.
 scistarter – Science we can do together, What is Citizen Science?, (2021). https://scistarter.org/citizen-
science (accessed July 29, 2021).
 Aristeidou M, Herodotou C, Online Citizen Science: A Systematic Review of Effects on Learning and
Scientific Literacy, Citizen Science: Theory and Practice. 5 (2020), 11. doi:
 Caputo B, Manica M, Filipponi F, Blangiardo M, Cobre P, Delucchi L et al., ZanzaMapp: A Scalable
Citizen Science Tool to Monitor Perception of Mosquito Abundance and Nuisance in Italy and Beyond,
Int. J. Environ. Res. Public. Health. 17 (2020). doi:10.3390/ijerph17217872.
 Ulahannan J.P, Narayanan N, Thalhath N, Prabhakaran P, Chaliyeduth S, Suresh S.P. et al., A citizen
science initiative for open data and visualization of COVID-19 outbreak in Kerala, India, J. Am. Med.
Inform. Assoc. JAMIA. 27 (2020), 1913–1920. doi:10.1093/jamia/ocaa203.
 Wiggings A, Wilbanks J, The Rise of Citizen Science in Health and Biomedical Research, Am J
Bioeth, 19 (2019), 3-14. doi: 10.1080/15265161.2019.1619859
 Wald D.M., Longo J, Dobell A.R., Design principles for engaging and retaining virtual citizen
scientists, Conserv. Biol. J. Soc. Conserv. Biol. 30 (2016), 562–570. doi:10.1111/cobi.12627.
 Bundesministerium für Bildung und Forschung (BMBF), Karliczek: "Wir wollen die Bürgerforschung
in Deutschland nachhaltig im Wissenschaftssystem verankern", (2020).
13592.html (accessed March 17, 2021).
 Schaaf J, Sedlmayr M, Prokosch H, Storf H, Evaluation of a Clinical Decision Support System for Rare
Diseases - a qualitative study. BMC Med Infor. Dec. Mak. 21 (65).
 M Neff, Schaaf J, Tegtbauer N, Schaefer J, Till M, T.O.F. Wagner, Graeßner H, Mundlos C, Storf H,
se-atlas.de - Versorgungsatlas für Menschen mit Seltenen Erkrankungen, Internist (2021). doi:
 Ventola C.L., Mobile Devices and Apps for Healthcare Professionals: Uses and Benefits. P.T. 39(5),
 Liberati A, Altman D, Tetzlaff J, Mulrow C, Gøtzsche P.C., Ioannidis J.P.A. et al., The PRISMA
statement for reporting systematic reviews and meta-analyses of studies that evaluate health care
interventions: explanation and elaboration, PLoS medicine. 6 (2009), e1000100.
 Hartshorne J.K, de Leeuw J.R., Goodman N.D., Jennings M, O’Donnell T.J., A thousand studies for
the price of one: Accelerating psychological science with Pushkin, Behav. Res. Methods. 51 (2019),
 Vicens J, Perelló J, Duch J, Citizen Social Lab: A digital platform for human behavior experimentation
within a citizen science framework., PloS One. 13 (2018), e0207219.
 Wang Y, Kaplan N, Newman G, Scarpino R, CitSci.org: A New Model for Managing, Documenting,
and Sharing Citizen Science Data., PLoS Biol. 13 (2015) ,e1002280. doi:10.1371/journal.pbio.1002280.
 Klepac P, Kissler S, Gog J, Contagion! The BBC Four Pandemic - The model behind the documentary,
Epidemics. 24 (2018), 49–59. doi:10.1016/j.epidem.2018.03.003.
 Candido Dos Reis F.J., Lynn S, Ali H.R., Eccles D, Hanby A, Provenzano E et al., Crowdsourcing the
General Public for Large Scale Molecular Pathology Studies in Cancer, EBioMedicine. 2 (2015), 681–
 Meakin J.R., Ames R.M., Jeynes J.C.G., Welsman J, Gundry M, Knapp K et al., The feasibility of
using citizens to segment anatomy from medical images: Accuracy and motivation, PloS One. 14
(2019), e0222523. doi:10.1371/journal.pone.0222523.
 McGehee A.J., Bhattacharya S, Roche R., Bhattacharya D, PolyFold: An interactive visual simulator
for distance-based protein folding, PloS One. 15 (2020), e0243331. doi:10.1371/journal.pone.0243331.
 Kawrykow A, Roumanis G, Kam A, Kwak D, Leung C, Wu C et al., Phylo: a citizen science approach
for improving multiple sequence alignment, PloS One. 7 (2012), e31362.
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems178
 Tuckett A.G., Freeman A., Hetherington S, Gardiner P.A., King A.C., Older Adults Using Our Voice
Citizen Science to Create Change in Their Neighborhood Environment, Int. J. Environ. Res. Public.
Health. 15 (2018). doi:10.3390/ijerph15122685.
 Sheats J.L., Winter S.J., Romero P.P, King A.C., FEAST: Empowering Community Residents to Use
Technology to Assess and Advocate for Healthy Food Environments, J. Urban Health Bull. N. Y. Acad.
Med. 94 (2017), 180–189. doi:10.1007/s11524-017-0141-6.
 Kushniruk A.W., Patel V.L., Cognitive and usability engineering methods for the evaluation of clinical
information systems, J Biomed Inform. 37 (2004), 56–76.
 H.O’Keefee W, Walls D. Usability Testing Design And Experience Design in Citizen Science: A Case
Study, SIGDOC '20: Proceedings of the 38th ACM International Conference on Design of
Communication. 33 (2020), 1-8. https://doi.org/10.1145/3380851.3416768
 Skarlatidoum A, Ponti M, Sprinks J, Nold C, Haklay M, Kanjo E, User experience of digital
technologies in citizen science, Journal of Science Communication, 18 (2019), 1-8. doi
J. Schaaf et al. / Citizen Science in Human Medicine and the Use of Software-Systems 179