Personal Genome Project UK (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, José Afonso Guerra-Assunção, Rifat Hamoudi, Vincent Harding, Paul L. Harrison, Javier HerreroJana Hofmann, Erica Jones, Saif Khan, Jane Kaye, Polly Kerr, Emanuele Libertini, Lauren Marks, Laura McCormack, Ismail Moghul, Nikolas Pontikos, Sharmini Rajanayagam, Kirti Rana, Momodou Semega-Janneh, Colin P. Smith, Louise Strom, Sevgi Umur, Amy P. Webster, Elizabeth H. Williams, Karen Wint, John N. Wood

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Article number108
Number of pages12
JournalBMC Medical Genomics
Volume11
Issue number1
DOIs
Publication statusPublished - 27 Nov 2018

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Precision Medicine
Genome
Research
Genomics
Information Dissemination
Transcriptome
Epigenomics
Life Style
Delivery of Health Care
Population
Genes

Keywords

  • Citizen science
  • Genome app
  • Genome donation
  • Genome reports
  • Open access
  • Open consent
  • Personal genomics

Cite this

Beck, S., Berner, A. M., Bignell, G., Bond, M., Callanan, M. J., Chervova, O., ... Wood, J. N. (2018). Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine. BMC Medical Genomics, 11(1), [108]. https://doi.org/10.1186/s12920-018-0423-1
Beck, Stephan ; Berner, Alison M. ; Bignell, Graham ; Bond, Maggie ; Callanan, Martin J. ; Chervova, Olga ; Conde, Lucia ; Corpas, Manuel ; Ecker, Simone ; Elliott, Hannah R. ; Fioramonti, Silvana A. ; Flanagan, Adrienne M. ; Gaentzsch, Ricarda ; Graham, David ; Gribbin, Deirdre ; Guerra-Assunção, José Afonso ; Hamoudi, Rifat ; Harding, Vincent ; Harrison, Paul L. ; Herrero, Javier ; Hofmann, Jana ; Jones, Erica ; Khan, Saif ; Kaye, Jane ; Kerr, Polly ; Libertini, Emanuele ; Marks, Lauren ; McCormack, Laura ; Moghul, Ismail ; Pontikos, Nikolas ; Rajanayagam, Sharmini ; Rana, Kirti ; Semega-Janneh, Momodou ; Smith, Colin P. ; Strom, Louise ; Umur, Sevgi ; Webster, Amy P. ; Williams, Elizabeth H. ; Wint, Karen ; Wood, John N. / Personal Genome Project UK (PGP-UK) : A research and citizen science hybrid project in support of personalized medicine. In: BMC Medical Genomics. 2018 ; Vol. 11, No. 1.
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Beck, S, Berner, AM, Bignell, G, Bond, M, Callanan, MJ, Chervova, O, Conde, L, Corpas, M, Ecker, S, Elliott, HR, Fioramonti, SA, Flanagan, AM, Gaentzsch, R, Graham, D, Gribbin, D, Guerra-Assunção, JA, Hamoudi, R, Harding, V, Harrison, PL, Herrero, J, Hofmann, J, Jones, E, Khan, S, Kaye, J, Kerr, P, Libertini, E, Marks, L, McCormack, L, Moghul, I, Pontikos, N, Rajanayagam, S, Rana, K, Semega-Janneh, M, Smith, CP, Strom, L, Umur, S, Webster, AP, Williams, EH, Wint, K & Wood, JN 2018, 'Personal Genome Project UK (PGP-UK): A research and citizen science hybrid project in support of personalized medicine', BMC Medical Genomics, vol. 11, no. 1, 108. https://doi.org/10.1186/s12920-018-0423-1

Personal Genome Project UK (PGP-UK) : A research and citizen science hybrid project in support of personalized medicine. / Beck, Stephan; Berner, Alison M.; Bignell, Graham; Bond, Maggie; Callanan, Martin J.; Chervova, Olga; Conde, Lucia; Corpas, Manuel; Ecker, Simone; Elliott, Hannah R.; Fioramonti, Silvana A.; Flanagan, Adrienne M.; Gaentzsch, Ricarda; Graham, David; Gribbin, Deirdre; Guerra-Assunção, José Afonso; Hamoudi, Rifat; Harding, Vincent; Harrison, Paul L.; Herrero, Javier; Hofmann, Jana; Jones, Erica; Khan, Saif; Kaye, Jane; Kerr, Polly; Libertini, Emanuele; Marks, Lauren; McCormack, Laura; Moghul, Ismail; Pontikos, Nikolas; Rajanayagam, Sharmini; Rana, Kirti; Semega-Janneh, Momodou; Smith, Colin P.; Strom, Louise; Umur, Sevgi; Webster, Amy P.; Williams, Elizabeth H.; Wint, Karen; Wood, John N.

In: BMC Medical Genomics, Vol. 11, No. 1, 108, 27.11.2018.

Research output: Contribution to journalArticle

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.

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.

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KW - Genome app

KW - Genome donation

KW - Genome reports

KW - Open access

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KW - Personal genomics

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