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
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