Aims As rare cancer (RC) treatments often lack evidence, genomic biomarkers may allow more rational treatment selection. We describe two novel approaches; Whole Genome Sequencing (WGS), with the potential to discover new cancer drivers, via the WEHI-Stafford Fox Rare Cancer Program (SFRCP); and enabling primary treating specialists to request i) advice on molecular testing, ii) identification of guidelines, iii) expert opinion on management and iv) access to research via the Australian Rare Cancer (ARC) Portal (Australian Genomics Cancer Medicine Centre (AGCMC)).
Methods The SFRCP has streamlined consent processes (including national remote consent) and research protocols allowing data and biospecimen collection and analysis. The ARC Portal enables remote SFRCP pt consent for access to health records and optional consent for biospecimen research. Portal case reports are prepared from published evidence and expert opinion to assist with decision-making by treating clinicians.
Results SFRCP has accrued 448 RC pts, including 369 rare gynaecological cancer (RGC) pts, with WGS performed on 106 RGC samples. Of these, 91 were fresh frozen, and of these, 42 (46%) harbored highly clinically actionable changes, with an additional 17 cases having information of potential therapeutic benefit (59 out of 91 cases (65%) deriving potential clinical benefit). Earlier analysis and improved drug access may further improve outcomes.
In order to understand the outcome of pts referred to the ARC portal, we surveyed 97 referrers in Oct 2021. 48 responses were received. Referring specialists noted that reports were timely, easy to understand and informative. In 42% of cases, patient’s management was impacted, 84% of these cases impacting treatment choice, eg access to targeted therapies.
Conclusions These SFRCP and ARC Portal programs provide novel approaches to treatment pathways for RC pts with a paucity of treatment options. These are evolving research strategies to optimise clinical pathways for this complex group of patients.