RT Journal Article
SR Electronic
T1 Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 609
OP 614
DO 10.1136/jmg-2022-108808
VO 60
IS 6
A1 Tudini, Emma
A1 Haas, Matilda A
A1 Mattiske, Tessa
A1 Spurdle, Amanda B
YR 2023
UL http://jmg.bmj.com/content/60/6/609.abstract
AB 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.Data are available upon reasonable request. Survey findings in summary format are available.