Background: Madeline's Model offers free upfront genomic testing to Queenslanders with cancer aged 15 to 40 and people diagnosed with a rare cancer. When consenting for sequencing, patients are offered the option to donate their genomic and personal health data to the Australian Omics Library, where it can support a limitless number of ethically approved research projects and trials.
Methods Person-centred design methods were adopted with young people and families leading the co-design process. The experiences of young people, families, clinicians, researchers, policy, legal and ethics professionals were explored during workshops using the world café method. Extensive consumer and stakeholder engagement was conducted to provide upfront genomic sequencing to people admitted at a metropolitan and regional hospital (Princess Alexandra and Sunshine Coast University Hospital). Dual consent allowed for, consent of whole exome sequencing and to donate genomic and omics information to the Australian Omics Library. The consolidated genomics library will allow approved researchers and clinicians to access peoples genome sequencing, medical history and treatment.
Results The initial 16 sequenced patients, ages ranged from 18 to 68 years, median age 30. 59% (n=10) were give a recommendation for targeted therapy or involvement in a clinical trial. This included the identification of an FGFR2 fusion in a cancer of unknown primary, and a PALB2 germline mutation in a patient with nasopharyngeal carcinoma.
Conclusion Madeline’s Model fills important gaps for young people and families in existing research-oriented approaches to genomics. The model has enabled young people to have an ongoing longitudinal summary of their cancer journey being compiled for their future access. It is a flagship patient and public voice initiative that supports precision medicine and accelerates research.