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Genomics England's Plans for 100,000 Genomes Mature

Published: Friday, February 07, 2014
Last Updated: Friday, February 07, 2014
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Genomics England has been reporting on progress and plans for implementation of the 100,000 Genomes Project over the coming year.

A pilot study sequencing 2,000 whole genomes from patients with suspected, undiagnosed rare diseases (in collaboration with the University of Cambridge) is already underway, with another to sequence 3,000 patient and patient tumour genomes from cancer patients (in collaboration with Cancer Research UK) is due to begin soon.

Genomics England (GeL) is currently analysing the results from fifteen trial genome sequences from cancer patients produced using different sequencing technologies by the Royal Marsden Hospital, in order to compare their performance. The main part of the programme is due to begin at the start of 2015, sequencing 30,000 whole genomes per year for three years to achieve the planned total of 100,000 by the end of 2017.

GeL has announced the appointment of James Peach as Managing Director for this programme; James is perhaps best known for his role as director for the CRUK Stratified Medicine Programme, and also served on the Department of Health’s Human Genomics Strategy Group (HGSG) along with many well-known figures from the UK genomics community (including PHG Foundation Director Dr Hilary Burton).

Membership of the GeL Board of Directors and four GeL committees (overseeing science, data, communications and engagement and ethics) has also reportedly been confirmed, though only two committee chairs are specified (Vivienne Parry for the communications and engagement group and Professor Mike Parker for the ethics group).

Meanwhile, GeL has also reached an agreement with the Wellcome Trust Sanger Institute to host the online Ethics and Genomics survey they produced and launched in 2012 to inform their own research in the area, so that visitors to the GeL website will be encouraged to participate. This will obviously provide a further boost to numbers of respondents for the survey and visitors are encouraged to participate as they ‘will be exploring the same ethical questions that Michael and his committee are addressing on behalf of Genomics England’, with the intriguing suggestion that ‘Your response to some of the questions may surprise you’.

A blog by GeL’s ethics programme manager Laura Riley sets out many of the ethical questions the ethics advisory committee will be examining, although interestingly the consideration about issues of feedback to patients, incidental findings and so on remains firmly in the context of patients as participants in research rather than receiving an NHS medical service – which latter is of course a different situation, and the one currently giving rise to the greatest concerns about implementation.

One of the questions currently under investigation by the PHG Foundation’s Realising Genomics project is whether the distinction between clinical and research ethics and practice actually make sense in the genomics era. GeL is well placed to learn important lessons about large-scale genomic research, but this will not necessarily address all the issues relevant for the introduction of personalised medicine in the clinic. 

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