NGRL Manchester Marks 10,000th Referral for Diagnostic Mutation Database
NGRL Manchester marked the addition of the 10,000th referral to its Diagnostic Mutation Database (DMuDB) by presenting an award to Wessex Regional Genetics Laboratory (the laboratory that submitted the 10,000th referral) at the British Human Genetics Conference on the 6th September. The database provides an essential resource for the UK’s genetic testing laboratories, allowing them to share genetic test results to support diagnosis. The 10,000th referral took DMuDB to over 34,000 individual variants (mutations) in 43 genes.
The diagnosis of genetic disease relies on the ability of a clinical scientist to identify whether a specific DNA change causes disease or not. By being able to see the results of other laboratories’ tests a clinical scientist will be able to provide a diagnosis for their patient with increased confidence, in a shorter time. The Diagnostic Mutation Database was established in 2005 to address the need of clinical scientists to share their data in a secure manner, and has grown rapidly during the last 5 years, becoming a staple tool in the genetic laboratory. Each referral represents genetic test data from one patient and can contain multiple variants, which are stored in the database, providing a central repository where anonymised clinical data can be shared.
“We are delighted to have reached the significant milestone of 10,000 referrals,” commented NGRL Director Andrew Devereau. “The more data DMuDB holds, the more useful a tool it becomes, and there is plenty of room for further growth. Our aim is to continue to develop DMuDB in both referral number and gene coverage so that it will provide essential information to every genetic scientist. We are now looking forward to being able to present an award for the 25,000th referral – our next milestone.”
The award for the 10,000th referral was presented to Sophie Marks on behalf of the Wessex Regional Genetics Laboratory at the British Human Genetics Conference, which took place in the University of Warwick on the 6-8th September.
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