TY - JOUR
T1 - Personal Genome Project UK (PGP-UK)
T2 - A research and citizen science hybrid project in support of personalized medicine
AU - Beck, Stephan
AU - Berner, Alison M.
AU - Bignell, Graham
AU - Bond, Maggie
AU - Callanan, Martin J.
AU - Chervova, Olga
AU - Conde, Lucia
AU - Corpas, Manuel
AU - Ecker, Simone
AU - Elliott, Hannah R.
AU - Fioramonti, Silvana A.
AU - Flanagan, Adrienne M.
AU - Gaentzsch, Ricarda
AU - Graham, David
AU - Gribbin, Deirdre
AU - Guerra-Assunção, José Afonso
AU - Hamoudi, Rifat
AU - Harding, Vincent
AU - Harrison, Paul L.
AU - Herrero, Javier
AU - Hofmann, Jana
AU - Jones, Erica
AU - Khan, Saif
AU - Kaye, Jane
AU - Kerr, Polly
AU - Libertini, Emanuele
AU - Marks, Lauren
AU - McCormack, Laura
AU - Moghul, Ismail
AU - Pontikos, Nikolas
AU - Rajanayagam, Sharmini
AU - Rana, Kirti
AU - Semega-Janneh, Momodou
AU - Smith, Colin P.
AU - Strom, Louise
AU - Umur, Sevgi
AU - Webster, Amy P.
AU - Williams, Elizabeth H.
AU - Wint, Karen
AU - Wood, John N.
N1 - Publisher Copyright:
© 2018 The Author(s).
PY - 2018/11/27
Y1 - 2018/11/27
N2 - 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.
AB - 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.
KW - Citizen science
KW - Genome app
KW - Genome donation
KW - Genome reports
KW - Open access
KW - Open consent
KW - Personal genomics
UR - http://www.scopus.com/inward/record.url?scp=85057952415&partnerID=8YFLogxK
U2 - 10.1186/s12920-018-0423-1
DO - 10.1186/s12920-018-0423-1
M3 - Article
AN - SCOPUS:85057952415
SN - 1755-8794
VL - 11
JO - BMC Medical Genomics
JF - BMC Medical Genomics
IS - 1
M1 - 108
ER -