Clinical genome analysis

31 October 2016

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 are doing

The PHG Foundation is exploring the challenges ahead for embedding genome sequencing within health services for patient benefit.This project is examining different aspects of clinical genome analysis in greater depth, to explain and address what barriers need to be crossed in order to use genome sequence data for practical, clinical purposes.

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


For more information about this project please contact Dr Sobia Raza.