Policy challenges of clinical genome sequencing | BMJ

Policy challenges of clinical genome sequencing | BMJ

BMJ 2013; 347 doi: http://dx.doi.org/10.1136/bmj.f6845 (Published 22 November 2013)

Cite this as: BMJ 2013;347:f6845

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1. Caroline F Wright, senior scientific manager1, 
2. Anna Middleton, ethics researcher1, 
3. Hilary Burton, director and public health consultant2, 
4. Fiona Cunningham, Ensembl variation project leader3, 
5. Steve E Humphries, professor of cardiovascular genetics4, 
6. Jane Hurst, consultant clinical geneticist5, 
7. Ewan Birney, associate director3, 
8. Helen V Firth, consultant clinical geneticist6

Author Affiliations

1. Correspondence to: C F Wright caroline.wright@sanger.ac.uk

• Accepted 8 October 2013

Around the world, genome sequencing is moving from research into the clinic, and in the UK plans to sequence the genomes of 100 000 NHS patients are well underway. A clear policy on how to conduct genomic testing is therefore both essential and urgent, argue Caroline Wright and colleagues

Genetic testing is moving from analysis of specific genes to sequencing of the whole genome. Clinical genome-wide sequencing is already offered by a handful of private companies and diagnostic laboratories in the US and by some countries in Europe. In December 2012, the UK prime minister announced ambitious plans to sequence the whole genomes of 100 000 NHS patients over the next three to five years.1 And in July the Department of Health set up Genomics England to help deliver the 100K Genome Project into mainstream healthcare in the NHS, with the initial focus on patients having genetic testing for the diagnosis of rare disorders, cancers, and infectious disease.2 3 4 5 6 Policy makers around the world are currently grappling with how to guide the implementation of genome sequencing in the clinic. Clear testing policy now needs to be agreed that covers issues such as whom to test and how to store, protect, and share genomic data appropriately.