Dataset Information

Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

ABSTRACT: BACKGROUND:Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is, however, not without challenges, and multiple studies are ongoing to identify what these are and explore how they can be addressed. METHODS:Defined as a research project, the Personal Genome Project UK (PGP-UK) is part of the global PGP network and focuses on open data sharing and citizen science to advance and accelerate personalized genomics and medicine. RESULTS:Here we report our findings on using an open consent recruitment protocol, active participant involvement, open access release of personal genome, methylome and transcriptome data and associated analyses, including 47 new variants predicted to affect gene function and innovative reports based on the analysis of genetic and epigenetic variants. For this pilot study, we recruited 10 participants willing to actively engage as citizen scientists with the project. In addition, we introduce Genome Donation as a novel mechanism for openly sharing previously restricted data and discuss the first three donations received. Lastly, we present GenoME, a free, open-source educational app suitable for the lay public to allow exploration of personal genomes. CONCLUSIONS:Our findings demonstrate that citizen science-based approaches like PGP-UK have an important role to play in the public awareness, acceptance and implementation of genomics and personalized medicine.

SUBMITTER: PGP-UK Consortium

PROVIDER: S-EPMC6257975 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

BMC medical genomics 20181127 1

<h4>Background</h4>Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is, however, not without challenges, and multiple studies are ongoing to identify what these are and explore how they can be addressed.<h4>Methods</h4>Defined as a research project, the Personal Genome Project UK (PGP-UK) is part of the global PGP network and focuses on open ...[more]

PMID: 30482208

Similar Datasets

Project description:As libraries struggle to keep pace with the changing societal landscape, emerging practices such as citizen science (CS) initiatives are being incorporated to reinforce the idea of public libraries as gathering, meeting, and collaboration spaces within the context of shared community and shared learning resources. However, there is little empirical evidence of whether the most open and participatory ways that CS puts forward can converge with and be nurtured by the essence of public libraries. Also, the roles of librarians and users in the 'next generation public library' have been under-developed. As the number of CS initiatives at public libraries grows, so does the need to collect evidence on the impact and the capacity of assimilation of CS practices. The data describes librarians and users' perceptions of participating in a citizen science project. Two hands-on activities for librarians of the Barcelona Network of Public Libraries were implemented. One was a training course for 30 librarians from 24 libraries which allowed them to envisage citizen science implementation in each library. The second activity consisted in the co-creation of a citizen social science project. 40 library users, 7 librarians from 3 different cities, and professional scientists, were involved. The data on librarians and users' perception was collected through participant observation, surveys, and a focus group to identify strengths and challenges of implementing citizen science at public libraries. The data covers librarians and users attitudes towards citizen science, their motivations to participate, their perceived ability to implement a citizen science project (as for librarians) or to contribute to science (as for library users), and the participants intention to keep engaged with citizen science, drawing on the Theory of Planned Behavior. Responses to closed-ended survey questions are analyzed at a descriptive level. The qualitative feedback from the focus group and the open-ended survey question on motivations is subjected to a thematic analysis. The data offers interesting insights to identify opportunities and challenges of implementing citizen science at public libraries, contributing to the debate over the public library's mission as local community hub.

Dataset Information

Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Publications

Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets