Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

A genetic test can identify genetic change(s) not related to the initial reason for doing the test. Internationally, there are differences in how these findings are managed. Survey responses from Australian testing laboratories found that they used several different terms to describe the findings, and had different reasons guiding their decision of whether to report them. Further, no laboratories actively searched for genetic changes in medically actionable genes. This leads to inequity for patients, and therefore a need for policy guidance. We provide recommendations for Australian laboratory policies, which may be adapted to other jurisdictions experiencing similar issues. (By Emma Tudini, https://jmg.bmj.com/content/early/2023/01/05/jmg-2022-108808 )

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