Genomes of 100 000 people will be sequenced to create an open access research resourceBMJ 2013; 347 doi: https://doi.org/10.1136/bmj.f6690 (Published 07 November 2013) Cite this as: BMJ 2013;347:f6690
An ambitious genome project launched in the United Kingdom this week aims to sequence the DNA of 100 000 people and publish that information as a free research resource that will be able to be accessed by anyone.
The genetic information will be linked to medical and other phenotypic information about the donors to enable researchers to use the material to help identify genes linked to medical conditions, develop new treatments, and facilitate improvements in personalised medicine.
Stephan Beck, director of Personal Genome Project UK (PGP-UK) and professor of medical genomics at University College London’s Cancer Institute, said, “This project is important for a number of reasons. It will establish the practice of open consent in the UK and enable medical advancement through meeting science’s need for ‘richer’ data.”
Speaking to the BMJ ahead of the launch of PGP-UK (www.personalgenomes.org.uk) on Thursday, Beck said, “The scientific world has been asking for more rich data. We have had lots of genome data, but they were not attached to health records, to trait data, and where these data have been available they are not under open access—they are under managed access. We really add a new project to the landscape that has the most advanced open access of any project in the UK as far as I know right now.”
In return for participating, volunteers in PGP-UK will receive an analysis of their genome and a report highlighting any genetic variants that they carry indicating which of them may be predictive of a particular disease, according to current tests.
Participants will have to be UK residents aged at least 18 years and not a monozygotic twin, unless both twins agree to participate, and a novel open consent protocol will be used.
Eligible volunteers will have to pass an online examination before they are accepted and will have to document that they have understood the risks and benefits of donating their genomes and associated data to the project for research purposes. They will then have to sign a 20 page consent form, effectively consenting to “everything that can be done” with their data, and a material transfer agreement specifying how their tissue samples, DNA, or cell lines would be able to be used.
Once the genomes have been sequenced, participants will have four weeks to study their individual genetic report before their data are published online. Published genome material will not be linked to full medical records; medical and other information will be self reported by participants through a questionnaire.
Under the open consent protocol, participants will not be promised anonymity or confidentiality, and they may be contacted by researchers wishing to enrol them in specific trials because they have certain genes or phenotypic traits.
Beck told the BMJ, “It is active participation; we call it citizen science. It is different from other projects where you sign a consent form, give your sample, and you may never receive feedback.
“I think the idea of being an active participant in this type of genome information project and contributing to the greater good to some extent but also personally benefiting from it is something very appealing. In the entire seven year history of the project [in the United States] not a single participant has terminated their participation, which they can do at any time without any reason.”
Because the material is open access, patents for any genes or treatments developed through use of the genomes will belong to the company that develops them.
PGP-UK is part of the international Personal Genome Project. The project started in the US in 2005, where 3000-4000 people have been enrolled, and it is now being rolled out worldwide. The UK is the first European country to participate.
The UK project has sufficient funding to sequence 50 genomes in the first year, and funding applications are in to enable the sequencing of far more. The project already has 400 people, who have heard about the US initiative, interested in participating.
Cite this as: BMJ 2013;347:f6690