New Standards Developed for DNA Sequence Variation Databases

The Royal College of Pathologists of Australasia (RCPA), Human Genetics Society of Australasia and the Human Variome Project have together produced a new set of Standards for DNA Sequence Variation Databases. These standards will help ensure a standardised approach when analysing the results of genetic tests. 

At present there are inconsistencies between different laboratories in interpretation of the significance of particular mutations or genetic variations that may be found in person’s DNA when it is sequenced. One laboratory may report a mutation as potentially harmful while another may say it is probably harmless.

Chair of the Genetics Advisory Committee and spokesperson for the RCPA, Dr Melody Caramins says “It’s our goal to improve the quality and integrity of genetic databases and the results they help to provide, thus ensuring patients are in a position to make better informed health decisions which may affect them, their children or their potential offspring.”

The developers of the new standards will be promote them to other health systems and accreditation bodies internationally to support the development of similar frameworks in similar databases around the world.

Further reading:
RCPA website

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