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PGP-UK: a research and citizen science hybrid project in support of personalized medicine

View ORCID ProfileStephan Beck, Alison M Berner, Graham Bignell, Maggie Bond, Martin J Callanan, Olga Chervova, Lucia Conde, Manuel Corpas, Simone Ecker, Hannah R Elliott, Silvana A Fioramonti, Adrienne M Flanagan, Ricarda Gaentzsch, David Graham, Deirdre Gribbin, Jose Afonso Guerra-Assuncao, Rifat Hamoudi, Vincent Harding, Paul L Harrison, Javier Herrero, Jana Hofmann, Erica Jones, Saif Khan, Jane Kaye, Polly Kerr, Emanuele Libertini, Laura McCormack, Ismail Moghul, Nikolas Pontikos, Sharmini Rajanayagam, Kirti Rana, Momodou Semega-Janneh, Colin P Smith, Louise Strom, Sevgi Urmur, Amy P Webster, Karen Wint, John N Wood
doi: https://doi.org/10.1101/288829
Stephan Beck
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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  • For correspondence: s.beck@ucl.ac.uk
Alison M Berner
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Graham Bignell
UK Citizen;
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Maggie Bond
UK Citizen;
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Martin J Callanan
UK Citizen;
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Olga Chervova
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Lucia Conde
Bill Lyons Informatics Centre UCL Cancer Institute London WC1E 6BT UK;
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Manuel Corpas
Cambridge Precision Medicine Ltd. Future Business Centre Kings Hedges Road Cambridge CB4 2HY UK;
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Simone Ecker
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Hannah R Elliott
MRC Integrative Epidemiology Unit at the University of Bristol Bristol BS8 2BN UK;
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Silvana A Fioramonti
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Adrienne M Flanagan
Pathology UCL Cancer Institute London WC1E 6BT UK;
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Ricarda Gaentzsch
Seven Bridges Genomics Inc. 1 Main St. 5th Floor Suite 500 Cambridge MA 02142 USA;
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David Graham
University College London Hospital 235 Euston Road London NW1 2BU UK;
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Deirdre Gribbin
UK Citizen;
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Jose Afonso Guerra-Assuncao
Bill Lyons Informatics Centre UCL Cancer Institute London WC1E 6BT UK;
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Rifat Hamoudi
Sharjah Institute of Medical Research College of Medicine University of Sharjah Sharjah UAE;
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Vincent Harding
UCL Health Creatives 30 Guilford Street London WC1N 1EH UK;
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Paul L Harrison
Visual Research Centre Duncan of Jordanstone College of Art and Design University of Dundee DD1 4D;
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Javier Herrero
Bill Lyons Informatics Centre UCL Cancer Institute London WC1E 6BT UK;
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Jana Hofmann
Deutsches Krebsforschungszentrum Im Neuenheimer Feld 280 69120 Heidelberg DE;
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Erica Jones
UK Citizen;
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Saif Khan
Division of Surgery and Interventional Science University College London London WC1E 6BT UK;
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Jane Kaye
Centre for Health Law and Emerging Technologies (HeLEX) Nuffield Department of Population Health;
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Polly Kerr
NIHR Oxford Biomedical Research Centre The Churchill Hospital Oxford OX3 7LE UK;
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Emanuele Libertini
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Laura McCormack
Permanent UK Resident;
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Ismail Moghul
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Nikolas Pontikos
UK Citizen;
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Sharmini Rajanayagam
The Royal Australian College of General Practitioners 100 Wellington Parade East Melbourne VIC 30;
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Kirti Rana
Bill Lyons Informatics Centre UCL Cancer Institute London WC1E 6BT UK;
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Momodou Semega-Janneh
UK Citizen;
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Colin P Smith
School of Pharmacy and Biomolecular Sciences University of Brighton Brighton BN2 4GJ UK;
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Louise Strom
Arnold & Porter Kaye Scholer LLP London WC2B 5PQ UK;
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Sevgi Urmur
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Amy P Webster
Medical Genomics UCL Cancer Institute London WC1E 6BT UK;
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Karen Wint
UK Citizen;
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John N Wood
Molecular Nociception Group WIBR, University College London London WC1E 6BT UK
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  • Abstract
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Abstract

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.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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Posted March 27, 2018.
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PGP-UK: a research and citizen science hybrid project in support of personalized medicine
Stephan Beck, Alison M Berner, Graham Bignell, Maggie Bond, Martin J Callanan, Olga Chervova, Lucia Conde, Manuel Corpas, Simone Ecker, Hannah R Elliott, Silvana A Fioramonti, Adrienne M Flanagan, Ricarda Gaentzsch, David Graham, Deirdre Gribbin, Jose Afonso Guerra-Assuncao, Rifat Hamoudi, Vincent Harding, Paul L Harrison, Javier Herrero, Jana Hofmann, Erica Jones, Saif Khan, Jane Kaye, Polly Kerr, Emanuele Libertini, Laura McCormack, Ismail Moghul, Nikolas Pontikos, Sharmini Rajanayagam, Kirti Rana, Momodou Semega-Janneh, Colin P Smith, Louise Strom, Sevgi Urmur, Amy P Webster, Karen Wint, John N Wood
bioRxiv 288829; doi: https://doi.org/10.1101/288829
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PGP-UK: a research and citizen science hybrid project in support of personalized medicine
Stephan Beck, Alison M Berner, Graham Bignell, Maggie Bond, Martin J Callanan, Olga Chervova, Lucia Conde, Manuel Corpas, Simone Ecker, Hannah R Elliott, Silvana A Fioramonti, Adrienne M Flanagan, Ricarda Gaentzsch, David Graham, Deirdre Gribbin, Jose Afonso Guerra-Assuncao, Rifat Hamoudi, Vincent Harding, Paul L Harrison, Javier Herrero, Jana Hofmann, Erica Jones, Saif Khan, Jane Kaye, Polly Kerr, Emanuele Libertini, Laura McCormack, Ismail Moghul, Nikolas Pontikos, Sharmini Rajanayagam, Kirti Rana, Momodou Semega-Janneh, Colin P Smith, Louise Strom, Sevgi Urmur, Amy P Webster, Karen Wint, John N Wood
bioRxiv 288829; doi: https://doi.org/10.1101/288829

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