New Genetics Testing Standards Launched

New standards on genetics testing have been released by The Royal College of Pathologists of Australasia (RCPA) in conjunction with the Human Genetics Society of Australasia and the Human Variome Project.
In a global first, the standards have been implemented to ensure a consistent approach when analysing the results of genetic tests and to establish a global framework for assuring the quality of these databases. The new guidelines will initially be implemented in Australia and New Zealand this year.
Chair of the Genetics Advisory Committee and spokesperson for the RCPA, Dr Melody Caramins says introducing a recognised framework will provide laboratory scientists, pathologists and clinicians with a benchmark for genetic analysis and will also enable us to begin discussions internationally, with the intention to use this platform on a wider scale.
“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,” she says.
At present, there are no recognised international guidelines in place to ensure the accuracy of databases and the subsequent clinical interpretations of this data.
“Genetic testing has evolved rapidly over the last 10 years.  In the past, testing for rare diseases could have taken years to determine a diagnosis, however with the use of next generation sequencing, we can now look at a greater number of genes at one time.
"In many cases, we’re reducing the diagnostic odyssey from three to five years, to a matter of months, which is an incredible achievement.  To keep apace of these technological advances and harness this valuable and comprehensive data, we need a recognised set of standards.”