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

Approaches to reporting clinically important genetic findings unrelated to the initial test request vary internationally. We sought to investigate practices regarding the management and return of these findings in Australia. Australian clinically accredited genetic testing laboratories were surveyed in 2017 and 2020 regarding their opinions on issues relating to the return of clinically important genetic findings unrelated to the initial test request. Responses were collated and analysed for 15 laboratories in 2017, and 17 laboratories in 2020. Content analysis was also performed on seven laboratory policies in 2020. Analysis showed that overall there was a lack of consensus about the terminology used to describe such findings and reporting practices across different testing contexts. A clear exception was that no laboratories were actively searching for a list of medically actionable genes (eg, American College of Medical Genetics and Genomics secondary findings gene list). Laboratory policies showed little consistency in the documentation of issues related to the handling of these findings. These findings indicate a need for Australian-specific policy guidance that covers all aspects of clinically important genetic findings unrelated to the initial test request. We present recommendations for consideration when developing laboratory policies.

Automated summary

Different countries have varied approaches to reporting clinically important genetic findings unrelated to the initial test request. This study investigated the management and return practices of Australian genetic testing laboratories in relation to these findings. Survey responses from 15 laboratories in 2017 and 17 laboratories in 2020 showed a lack of consensus in terminology and reporting practices for such findings across different testing contexts. Laboratory policies also lacked consistency in documenting issues related to the handling of these findings. The study highlights the need for Australian-specific policy guidance and offers recommendations for developing laboratory policies.