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Clinical genome analysis


Following the publication of a series of briefing notes, this project is now closed. 

Recent advances in DNA sequencing technology are making rapid, affordable genome sequencing increasingly viable in health services. This will pave the way for increasingly personalised medicine and better medical care and public health, and offers immediate benefits for patients with rare diseases and cancer. So what will it take to make clinical genome sequencing and analysis a reality? 

What we did

The PHG Foundation examined in depth the different aspects of clinical genome analysis  to explain and address how to overcome the barriers to the effective clinical use of genome sequence data for patient benefit.

The PHG Foundation has been watching the development of genome sequencing technology and the potential for genomic medicine with great interest for years. In 2011 we produced the first ever appraisal of the potential impact on medical practice, which identified the challenges to prompt uptake and made specific recommendations for the UK National Health Service. We published our findings in the seminal report Next steps in the sequence: The implications of whole genome sequencing for health in the UK

Project Advisory Group

The Clinical Genome Project is supported by input from a working group of experts in clinical genetics and genetic science: 
Professor Sian Ellard:
Consultant Molecular Geneticist, Royal Devon & Exeter NHS
Professor Frances Flinter
Consultant in Clinical Genetics and Caldicott Guardian, Guy's & St Thomas' NHS Foundation Trust, London
Dr Shehla Mohammed:
Consultant Clinical Geneticist and Head of Service, Guys & St Thomas' NHS Foundation Trust, London
Dr Christine Patch:
Consultant Genetic Counsellor & Reader in Clinical Genetics, Guys St Thomas' NHS Foundation Trust, London
Dr Jo Whittaker:
Senior Fellow, PHG Foundation, Cambridge
Dr Caroline Wright:
Senior Scientific Manager (DDD Project Manager) Wellcome Trust Sanger Institute, Hinxton, Cambridge

Related publications


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