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Objectives: To assess the understanding of people diagnosed with ovarian cancer regarding genetic testing; to understand knowledge gaps among people diagnosed with ovarian cancer that may impact best practice care; and to monitor overall changes in understanding from 2015 to 2022. Design: Longitudinal ’opt-in’ study using an online survey tool at three timepoints: 2015, 2018 and 2022. Participants: People in Australia (or their families / caregivers) diagnosed with ovarian cancer between 2010 and 2022). Main outcome measures: Self-reported awareness of heritable risk factors for ovarian cancer, genetic testing approaches and participation in clinical trials. Results: The study indicated that there have been improvements in the understanding and awareness of people diagnosed with ovarian cancer regarding familial risk (an increase from 43.6% (45 of 149) in 2015 to 62.9% (166 of 264) in 2022); but people were less likely to be aware of the difference between somatic (tumour) and germline testing (120 of 266, 45.1%). However, there were self-reported improvements to clinical trial access in non-metropolitan areas (12 of 64, 18.8% in 2022 compared to 22 of 145, 15.2% in 2018), bringing it on par with metropolitan areas (32 of 169, 18.9% in 2022). Conclusions: Despite improved awareness about genetic testing among people diagnosed with ovarian cancer, there remain knowledge gaps in understanding of genetic testing types (germline and somatic) and gene variant targeted therapies; and further work to improve clinical trial awareness and access is required.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD). Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS. The Flagship adopted a tiered approach to GS analysis. Tier 1 analysis assessed genes with established clinical validity for each cardiovascular condition. Tier 2 analysis assessed lesser-evidenced research-based genes. Tier 3 analysis assessed the functional impact of VUS that remained after tier 1 and tier 2 analysis. Results: Overall, a pathogenic or likely pathogenic variant was identified in 41% of participants with a cardiomyopathy, 40% with an arrhythmia syndrome, and 15% with a familial CHD/CHD+Extra Cardiac Anomalies. A VUS outcome ranged from 13% for arrhythmias to 34% for CHD/CHD+Extra Cardiac Anomalies participants. Tier 2 research analysis identified a likely pathogenic/pathogenic variant for a further 15 participants and a VUS for an additional 15 participants. Conclusion: The Flagship successfully facilitated a model of care that harnesses clinical GS and functional genomics for the resolution of VUS in the clinical setting. This valuable data set can be used to inform clinical practice and facilitate research into the future.