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Whole genome sequencing in health services

The rapid development of fast, affordable whole genome sequencing (WGS) technologies is set to revolutionise clinical and public health practice. The potential benefits within the next few years are significant: improved diagnosis and management of inherited diseases and cancer, and more personalised use of treatments and therapies.

However, the sheer quantity and complexity of the information generated by WGS, along with ever-changing understanding of the function of genes in health and disease, presents new challenges for health systems. To ensure that the opportunities for genomic medicine are promptly, effectively and responsibly harnessed, important questions must be addressed:

"Next steps in the sequence: the implications of whole genome sequencing for health in the UK" is the first comprehensive guide to the clinical impact of these transformational technologies, and makes specific recommendations for prompt and effective adoption within the UK National Health Service (NHS).

How to reference this report: Next steps in the sequence. The implications of whole genome sequencing for health in the UK. Wright C, Burton H, Hall A, Moorthie S, Pokorska-Bocci A, Sagoo G, Sanderson S, Skinner R. PHG Foundation (2011). ISBN 978-1-907198-08-3.

For further information about the report, please contact Dr Philippa Brice.

For members of the media, please contact the PHG Foundation press office on 07505092081.


As well as the many experts who are taking part in this programme, we are delighted to acknowledge the following organisations that have provided financial and practical support, recognising the value of our independent investigation and conclusions for health and health services.

Last Updated: 25 May 2012