Journal article
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.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Preview, Version of record, pdf, 3.8MB, Terms of use)
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- Publisher copy:
- 10.1186/s12920-018-0423-1
Authors
- Publisher:
- BioMed Central
- Journal:
- BMC Medical Genomics More from this journal
- Volume:
- 11
- Article number:
- 108
- Publication date:
- 2018-11-27
- Acceptance date:
- 2018-10-17
- DOI:
- EISSN:
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1755-8794
- ISSN:
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1755-8794
- Pmid:
-
30482208
- Language:
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English
- Pubs id:
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pubs:950768
- UUID:
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uuid:5002b740-a8df-46d1-bcd9-5e32572802d3
- Local pid:
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pubs:950768
- Source identifiers:
-
950768
- Deposit date:
-
2019-03-01
Terms of use
- Copyright holder:
- Beck et al
- Copyright date:
- 2018
- Notes:
- © The Author(s). 2018. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- Licence:
- CC Attribution (CC BY)
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