A new service will allow clinical geneticists throughout the world to enquire about variant data held in the UK Diagnostic Mutation Database (DMuDB).

DMuDB is a central repository for sharing gene variant data between UK diagnostic genetics laboratories. Established by the National Genetics Reference Laboratory (NGRL) Manchester in 2002, DMuDB supports genetic testing services for UK National Health Service patients, allowing scientists to determine the significance of variants which may not previously have been identified by their own laboratory. The new enquiry service is designed to extend the benefit of DMuDB internationally. Individuals with a legitimate interest can request to be informed of the existence of a particular variant in DMuDB via a secure web page. They will be put into contact with the appropriate NHS laboratory if the variant of interest is present in DMuDB.

Diagnostic molecular genetics laboratories in the UK analyse and report hundreds of mutations per year for a range of inherited diseases, some of them very rare. However, the data that they generate are not generally added to the many online databases that exist, or reported in journal publications. DMuDB was designed to make submission and curation of data easier for labs to achieve. Nearly 10,992 records for 83 genes are currently recorded in DMuDB, containing over 36,206 individual variants. For BRCA1 and BRCA2, over 1,517 unique variants are listed of which 50% do not appear in the Breast Cancer Information Core (BIC). Other well represented genes include MLH1, MSH2, MSH6, APC, CFTR, MEN1, NF1, NF2, RPGR and TSC2.

NGRL Manchester is developing links to major variant database projects to allow DMuDB data to be made available more widely. The new enquiry service is designed to ensure that clinical geneticists outside the UK are able to access up-to-date DMuDB data while these links are being developed.

The secure enquiry form can be found here, and more information on DMuDB can be found here.