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Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices
  1. Emma Tudini1,2,
  2. Matilda A Haas1,3,
  3. Tessa Mattiske1,3,
  4. Amanda B Spurdle2
  1. 1Australian Genomics Health Alliance, Parkville, Victoria, Australia
  2. 2Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
  3. 3Genetics, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  1. Correspondence to Dr Matilda A Haas, Australian Genomics Health Alliance, Parkville 3052, VIC, Australia; matilda.haas{at}mcri.edu.au

Abstract

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
  • Genomics
  • Human Genetics
  • Policy
  • Genetics

Data availability statement

Data are available upon reasonable request. Survey findings in summary format are available.

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Data availability statement

Data are available upon reasonable request. Survey findings in summary format are available.

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Footnotes

  • Twitter @MatildaHaas

  • 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.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.