RT Journal Article
SR Electronic
T1 PGP-UK: a research and citizen science hybrid project in support of personalized medicine
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 288829
DO 10.1101/288829
A1 PGP-UK Consortium
A1 Stephan Beck
A1 Alison M Berner
A1 Graham Bignell
A1 Maggie Bond
A1 Martin J Callanan
A1 Olga Chervova
A1 Lucia Conde
A1 Manuel Corpas
A1 Simone Ecker
A1 Hannah R Elliott
A1 Silvana A Fioramonti
A1 Adrienne M Flanagan
A1 Ricarda Gaentzsch
A1 David Graham
A1 Deirdre Gribbin
A1 José Afonso Guerra-Assunção
A1 Rifat Hamoudi
A1 Vincent Harding
A1 Paul L Harrison
A1 Javier Herrero
A1 Jana Hofmann
A1 Erica Jones
A1 Saif Khan
A1 Jane Kaye
A1 Polly Kerr
A1 Emanuele Libertini
A1 Laura McCormack
A1 Ismail Moghul
A1 Nikolas Pontikos
A1 Sharmini Rajanayagam
A1 Kirti Rana
A1 Momodou Semega-Janneh
A1 Colin P Smith
A1 Louise Strom
A1 Sevgi Umur
A1 Amy P Webster
A1 Karen Wint
A1 John N Wood
YR 2018
UL http://biorxiv.org/content/early/2018/03/27/288829.abstract
AB 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. 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. 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 ten 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. 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.