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Genetic testing: supporting informed choices

"a fast moving science.. mixed with the art of caring for families and patients"

Dr Christine Patch
Consultant Genetic Counsellor and Manager
Guy's Hospital

 

"The gene dossier process is a way of assessing genetic test to see if they are fit for purpose"

Dr Fiona Stewart
Consultant Clinical Geneticist, Northern Ireland Regional Genetics Service

 

Many techniques now exist to interrogate chromosomes and DNA for genetic information about disease, but how can we ensure that genetic testing is carried out appropriately, according to the needs of the patient?

Genetic testing is normally carried out for one of three reasons; to make or confirm a disease diagnosis, to undertake a genetic risk assessment or to stratify the likelihood of developing a common adult-onset disease, as summarised in the genetic testing framework below. Click on each of the stages for more information.

Explore our interactive framework to support the genetic testing process by clicking on the image below

Interactive Diagram

For individuals to make informed choices about genetic testing, appropriate information and education resources need to be available.  The Centre is currently collaborating on a joint project with the NHS United Kingdom Genetic Testing Network (UKGTN) to develop tailored resources for patients, healthcare professionals and commissioners of NHS services.

 

 

Last updated: 18 October 2010