Translational genomics: the path from genomic insight to clinical applications
The Centre organised a meeting of international and national experts to consider developments in translational genomics, particularly focusing on case examples of drugs and interventions that have made successful transitions to the market or clinic. To view video and other information from this event please visit the translational genomics page.
The full report of a meeting organised by the NGEDC held at the Royal College of Physicians on 15 January 2013.
Examples of genomic healthcare
Testing a tumour for genetic changes may lead to a drug being used which is specifically targeted at that type of tumour.
Genetic testing for an infection may lead to accurate diagnosis or specific treatment.
For many examples where genomic information is being used in practice, please click on the clinical applications shown above. Here, colleagues describe two uses of genomic information.
Testing for diabetes
Professor Sian Ellard, Peninsula Clinical Genetics Service
In this video Professor Sian Ellard talks about diabetes and how genomic information can identify people who have a particular type which responds well to tablets rather than insulin injections. Length: 1 minute 19 seconds.
"For about 25% of patients [with suspected monogenic diabetes] we make a genetic diagnosis; which can change their treatment - this can have really dramatic impact upon their lives"
Whole genome sequencing
Dr Leslie G. Biesecker, Chief & Senior Investigator - Genetic Disease Research Branch
In this video Dr L Biesecker explains how looking at a person’s entire genome could alter the way doctors think about the cause of illness and how to investigate it. Length: 36 seconds.
A report on delivering genomics through clinical practice
This report is of a workshop held at the Royal College of Physicians in June 2011 involving fifteen medical specialties. It examined the challenges of integrating genomic medicine across a wide range of clinical practice. Building on reports of the PHG Foundation on genetics/genomics in cardiovascular medicine and ophthalmology, and a strategic overview, this report includes workshop findings and provides key recommendations for the College. The workshop was organised by the Joint Committee on Medical Genetics, PHG Foundation, UK Genetic Testing Network and the NHS National Genetics Education and Development Centre. Sir Richard Thompson, RCP President, said in his foreword: “The education of physicians and other health professionals to fully use genomics in their practice, whether as a generalist or a sub-specialist, is of prime importance, together with the development of standards for high quality care that optimise the use of genomics in patient pathways. A first step is for all speciality societies and their education and training sub-committees to consider the issues identified in this report.”