TGAC Explores The Role Of Open Science In Human Genomics
News Nov 27, 2014
Held at the Future Business Centre in Cambridge on 22 November, the symposium was arranged by the charity DNAdigest as part of their mission to promote, enable and raise awareness of the issues involved in applying open science concepts to human genomics research.
The free event aimed to identify and explore the obstacles, such as privacy concerns, that currently hinder the operation of open science concepts within this research field. It is crucial to address these concerns as, by impeding access to this data, these barriers prevent valuable research from being performed.
The one-day symposium comprised of short presentations and informal group discussions. Manuel Corpas spoke about his personal experience of applying open science concepts, explaining how he utilised crowdfunding to finance the sequencing of his and three of his family members’ genomes.
The genetic data obtained was then made freely available to any scientist or company for analysis. In return, the family only requested that they be informed of any results. By facilitating easy access to this data, the family benefited from their DNA being analysed across a wider array of tools and methods than if they had used a sole company for the analysis. The case study, therefore, demonstrates the advantages of adopting an open-access approach to personalised genome analysis.
"It is important that we understand the benefits and risks of deciphering personal genomes at a family level. This can only be achieved through a rigorous exploration of how results can influence life choices and human relationships," said Manuel Corpas.
Fiona Nielsen, founder and CEO of DNAdigest, added: "The fully booked DNAdigest symposium clearly illustrated the interest from both the scientific community and the public in how researchers, industry and government deal with genomics data and how they can all contribute to make the greatest positive impact for patients."
The symposium also included presentations from:
- Dr Nick Sireau, Founder and Chairman of FindACure, on the role of open science in aiding collaborations between scientists and patients.
- Professor Tim Hubbard, Head of Bioinformatics at Genomics England, Head of Department of Medical and Molecular Genetics at King’s College London and Director of Bioinformatics for King's Health Partners/King's College London, on the 100k genomes project.
- Julia Wilson, Associate Director of External Relations at the Wellcome Trust Sanger Institute, on the work the Global Alliance is doing to introduce standards for data sharing.
DNAdigest is a charity founded in Cambridge that works to promote and facilitate the sharing of genomic data. Easy access to this data is valuable as it enables research into areas such as diagnostics and treatments. The charity runs workshops, events and activities to foster collaborations, trial data sharing processes and support open-access genomics. More information can be found via their website.
TGAC is strategically funded by BBSRC and operates a National Capability to promote the application of genomics and bioinformatics to advance bioscience research and innovation.
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