31 October 2016
Realising Genomics in Clinical Practice highlights the ethical, legal, social and practical issues that need to be addressed to ensure that clinical implementation of genomic sequencing to improve patient care is as effective, efficient and responsible as possible.
The Realising Genomics project focused on the ethical, legal, social (ELSI) and practical challenges arising from the use of DNA sequencing and analysis in health care - gene panel testing, whole exome and whole genome sequencing. Whole genome sequencing forms the basis of the UK’s 100,000 Genomes Project which seeks to harness its potential to advance knowledge and ultimately improve health.
There is a risk that medicine could be driven by the technology; the Realising Genomics report is of huge value because it reminds us of the importance of thinking carefully about the clinical benefits and possible risks of genome sequencing.
Prof Frances Flinter
Consultant in Clinical Genetics & Caldicott Guardian, Guy’s & St Thomas’ NHS Foundation Trust
Built on multidisciplinary research, stakeholder workshops and expert analysis, the Realising Genomics report makes 25 policy recommendations for implementing genomic technologies in health systems to maximise health benefits and minimise potential harms for patients.
Following the publication of our report Realising Genomics in Clinical Practice, we convened a summit of the main stakeholders involved in the delivery of genomic services to hear our 25 policy recommendations for implementing genomic technologies in health systems to maximise health benefits and minimise potential harms for patients.
Briefing note: The impact of genomic sequencing technologies on patient pathways and accompanying blog
Consultation response: Eurogenetest: guidelines for diagnostic next generation sequencing
Briefing note: Realising genomics in clinical practice – project brief