Abstract
BackgroundMolecular 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.MethodsDefined 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.ResultsHere 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.ConclusionsOur 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.
Highlights
Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions
As examples of citizen science, which we define here as activity that encourages members of the public to participate in research by taking on the roles of both subject and scientist [18], we describe the first three genome donations received by Personal Genome Project UK (PGP-UK) and we present GenoME, the first app developed as an educational tool for the lay public to better understand personalized and medical genomics
PGP-UK participants uk35C650, uk33D02F, uk481F67 and uk4CA868 all self-identified and consented for their names, photos, videos and data to be used in the manuscript and GenoME app
Summary
Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. The sequencing of the first human genome in 2001 [1, 2] catalysed a revolution in technology development, resulting in around 1 million human genomes having been sequenced to date at ever decreasing costs [3] This still expanding effort is underpinned by a widespread consensus among researchers, clinicians and politicians that ‘omics’ in one form or another will transform biomedical research, healthcare and lifestyle decisions. Little of the data from these sources are being made available for research under open access which, in the past, has been a driving force for discovery and tool development [7] This important research need for unrestricted access to data was first recognised by the Human Genome Project and implemented in the ‘Bermuda Principles’ [8]. The concept proved highly successful and was developed further by personal genome projects such as PGP [9,10,11,12] and iPOP [13] and, more recently, has been adopted by some medical genome projects like TXCRB [14] and MSSNG [11] the latter of which uses a variant of registered access [15]
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