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?
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
Briefing note: Phenotyping patients for genomic diagnostics and accompanying blog What’s in a phenotype? Next-generation genomic diagnosis
Two briefing notes: Sharing clinical genomic data for better diagnostics with accompanying blog Genomic data: to share is to care and the briefing note Setting the right standards for clinical genome analysis along with an accompanying blog
Report: Next steps in the sequence