European Union Committee of Expert on Rare Diseases (EUCERD) Report 2013: State of the Art of Rare Disease Activities in the United Kingdom

UKGTN has contributed to this report aimed to provide an informative and descriptive overview of rare disease activities at European Union (EU) and Member State (MS) level in the field of rare diseases up to the end of 2012.

Workload measurement for diagnostic molecular genetics

Susan Stenhouse

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

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

Dr Mark Kroese

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.