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.
- Genetic Testing
- Human Genetics
Data availability statement
Data are available upon reasonable request. Survey findings in summary format are available.
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Contributors Conceptualisation: ET, ABS. Data curation: ET, MAH, TM, ABS. Formal analysis: ET, MAH, TM, ABS. Funding acquisition: ABS. Methodology: ET, MAH, TM, ABS. Project administration: ET, MAH, TM, ABS. Resources: ABS. Supervision: ABS. Visualisation: ET, MAH, TM, ABS. Writing—original draft: ET, MAH, TM, ABS. Writing—review and editing: ET, MAH, TM, ABS.
Funding Research (including funding for ET, MAH and TM) was supported by Australian Genomics (NHMRC grants GNT1113531 and GNT2000001). ABS was supported by NHMRC Fellowship funding (APP1061779, APP177524).
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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