Scientific/Medical Publications

Peer-reviewed publications in Scientific and Medical Journals by UKGTN are listed here. 

01/07/2011
Susan Stenhouse

Workload measurement for diagnostic molecular genetics

The Bulletin of The Royal College of Pathologists 155 168-170 2011

30/05/2007
Dr Mark Kroese

How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network

European Journal of Human Genetics (2007), 1–5

Mark Kroese, Ron L Zimmern , Peter Farndon , Fiona Stewart and Joanne Whittaker

The UK Department of Health supported the establishment of the UK Genetic Testing Network (UKGTN) in 2002. The UKGTN is a collaborative network of NHS molecular genetic laboratories that offer tests for human single gene germ-line disorders. Its objective is to provide high quality and equitable services for patients and their families who require genetic advice, diagnosis and management. The UKGTN has developed a ‘Gene Dossier’ process to evaluate genetic tests and recommend which tests will be provided by the National Health Service. This paper describes the UKGTN organisation and the ‘Gene Dossier’ process. A brief review of the UKGTN genetic test evaluation experience is presented.