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Whole-genome bisulfite sequencing. Whole-exome sequencing. Whole-genome sequencing. We also would like to acknowledge an award from the MRC Proximity to Discovery Industry Engagement Fund to facilitate access to the cloud-based computing infrastructure of Seven Bridges Genomics. Consortium members. Project coordination. IT systems.

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Data Analysis. Citizen science. Stephan Beck wrote the manuscript with contributions from all authors. All authors have approved the manuscript. Corresponding author: Stephan Beck s. SNPedia: www. ClinVar: www. Twitter: www. Facebook: www.


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YouTube: www. Blog: www. All authors have approved the manuscript for publication. Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Research article Open Access. BMC Medical Genomics 11 Abstract Background Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. 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.

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. Ethics The research conformed to the requirements of the Declaration of Helsinki, UK national laws and to UK regulatory requirements for medical research.

Participant input and communication The interests of the pilot participants were considered in two ways. Private variants We define single nucleotide variants SNVs as private e. Generation of reports The genome reports were generated using variant calls derived from the WGS data as described above.

Data types and access options To demonstrate the feasibility of citizen science-driven contributions to personalized medicine, we actively engaged the first 10 participants and first three Genome Donors in all aspects of this PGP-UK pilot study. While easy access is facilitated through the PGP-UK data portal see Links , the time required to download all the data can present a challenge that is common to many large-scale omics projects.

To address this, we joined forces with Seven Bridges Genomics Inc. Researchers worldwide can create a free profile online or log in via their eRA Commons or NIH Center for Information Technology account to gain access to nearly 3 petabytes of publicly available data and relevant tools to analyse them.

Following a successful trial and the open ethos of PGP, the data generated by the PGP-UK consortium for the first 13 participants are now easily accessible through the CGC for rapid, integrated and scalable cloud-based analysis using publicly available or custom-built pipelines. A definition of what we consider private variants is described in the Methods section. To obtain a first insight into their possible functions we used multiple independent methods see Methods and Additional file 2 to predict their effects.

GEN 714 (M1) - Personal Genomics

Of the , private SNVs identified, 29, Fourty seven SNVs were predicted to have significant impact by all four methods Fig. The majority 41 SNVs were predicted to have moderate impact, one was predicted to have high impact and four were predicted to have a modifier impact Additional file 4. See Definitions section for descriptions of moderate, high and modifier impact.

To make genome and methylome reports more accessible and understandable to the lay public, we developed GenoME as a free and open source genome app for Apple iPads. The main purpose was to have actual people presenting real incidental findings in an innovative and engaging way. For that, we recruited four volunteers ambassadors from the pilot cohort who were willing to self-identify and share their personal genome story through embedded videos, specifically composed music and artistically animated examples of incidental findings from their genomes.

To illustrate this, we selected two traits eye colour and smoking status for which we reported genetic and epigenetic variants, respectively. Figure 2b shows an intermediate state of the colours coalescing into the eye colour predicted by the SNVs for this participant and Fig. In GenoME, the sequence of screens is complemented by integrated music elements to enable people with compromised sight to experience genetic variation through sound. Other features not shown include variants associated with ancestry using an animated world map and disease using population-specific allele frequency graphics.

Definitions Open access: Mode of access to data that are freely, publicly and directly accessible under a CC0 waiver or equivalent public domain license. Manuscript Stephan Beck wrote the manuscript with contributions from all authors. Ethics approval and consent to participate The research conformed to the requirements of the Declaration of Helsinki, UK national laws and to UK regulatory requirements for medical research. Consent for publication All authors have approved the manuscript for publication. Competing interests All authors declare that they have no competing interests. Initial sequencing and analysis of the human genome.

The sequence of the human genome. Big Data: Astronomical or Genomical? PLoS Biol. The , genomes project. A new initiative on precision medicine. N Engl J Med. Direct-to-consumer genetic testing: a comprehensive view.

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Yale J Biol Med. Genomics and privacy: implications of the new reality of closed data for the field. PLoS Comput Biol. Bermuda 2. Harvard personal genome project: lessons from participatory public research. Genome Med. A public resource facilitating clinical use of genomes. The whole genome sequences and experimentally phased haplotypes of over personal genomes. The personal genome project Canada: findings from whole genome sequences of the inaugural 56 participants.

JMIR Publications

Personal omics profiling reveals dynamic molecular and medical phenotypes. An open access pilot freely sharing cancer genomic data from participants in Texas. Sci Data. Eur J Hum Genet. From genetic privacy to open consent. Nat Rev Genet.

Participatory genomic research: ethical issues from the bottom up to the top down. Annu Rev Genomics Hum Genet. Citizen science or scientific citizenship? BMC Medical Ethics: Disentangling the uses of public engagement rhetoric in national research initiatives; Mobile medical and health apps: state of the art, concerns, regulatory control and certification. Online J Public Health Inform. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial.

Ann Intern Med. Citizen scientists now have the ability to share their genomic, environmental and trait data with each other and scientists around the world.

Selected Titles in Personal Genomics from the Bioethics Research Library

Many already share their information with the Personal Genome Project to try to improve our understanding of human health. With new safeguards in place, the concept of sharing is spreading.

Genomics and Medicine | NHGRI

The future of citizen science is exciting, and there are virtually no boundaries for its possibilities. Read about breakthrough science, the everyday people who make it happen, and the patients we serve. A new era for cancer patients and their families. Mentoring students from local elementary schools in South San Francisco gives Sean Johnston hope for the future. See how fast you can complete the blood clotting process in our new game! Featured Topics. Behind The Science. Breast Cancer. Cancer Immunotherapy. Lung Cancer.


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Multiple Sclerosis. Respiratory Health. The progress in genomic sequencing may now inspire a personal genomics revolution. The value of accuracy and acessibility We each have variations in our DNA that make us unique. Dudley and Konrad J. Karczewski Abstract This book provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. More This book provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information.

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Subscriber Login Email Address. Library Card. View: no detail some detail full detail. Chapter 1 A gentle introduction to genomics. Chapter 2 Practical and ethical considerations in personal genomics. Chapter 3 Getting started with personal genomics. Chapter 4 Visualizing personal genomics. Chapter 5 Ancestry and genealogy.