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Multi-purpose genetics data for science and health

Report of a story in the news   |   By Dr Philippa Brice   |   Published 3 January 2012

Source: Workshop report

A new report sets out recommendations for the UK to work towards production of a genetic data set that is suitable for genetics, clinical, laboratory, health service commissioning and research purposes.

Funded by the UK Genetic Testing Network (UKGTN), the National Genetics Reference Laboratory (NGRL) Manchester has been working with the Department of Health Informatics Directorate to review current data sets relevant to clinical and laboratory genetics and the IT systems in use in genetics centres and other National Health Service (NHS) services.

The report from an expert workshop held last summer outlines frameworks of data standards that would support the use of genetic data ‘by both specialists and clinical geneticists’, and of data exchange applications for genomic medicine. Recommended next steps include securing funding to develop these frameworks and investigate how to take forward testing and adoption of new standards via the Information Standards Board (ISB). 

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