Molecular tumour profiling (MTP), which aims to link molecular targets in tumours to cognate therapies, has entered clinical practice, driven by technical capacity, reduced costs, and the pressing need for more effective treatments. However, little is yet known about the ethical, psychosocial and behavioural implications of MTP. The Molecular Screening and Therapeutics program is recruiting 1,000 patients with an advanced, solid, rare cancer to undertake MTP and, if an actionable variant is found, participate in a suitable therapeutic trial if available. The current psychosocial sub-study (PiGeOn) aims to explore participants’ understanding, experiences and views regarding MTP at three timepoints: after giving consent, after receiving results, and at 5 months follow-up. Baseline qualitative results are reported here.
Purposive sampling was used to saturation to ensure diversity in cancer types and demographics. PiGeOn participants participated in semi-structured interviews which were transcribed and analysed thematically.
Twenty patients participated, aged 41 to 77 years. Four major themes were identified from the data: 1) Consent: a no-brainer, with participants seeing nothing to lose and desperate to find a life-saving treatment; 2) Genomics: the black box, with most patients only vaguely understanding the procedure, and dependent on their oncologist to interpret results; 3) 'My situation is so grave, I can’t focus on anything else': many participants focused on MTP as a way to preserve hope, reassured by the thought of having more people looking out for them over time; and 4) Uncertainty is everywhere: living with cancer is an inherently uncertain journey, and uncertainty from testing is nothing in comparison.
This is one of few studies to explore the experiences of people who have undergone MTP and will be the first Australian study to do this longitudinally. Identifying new treatment options overshadows broader and familial implications of genetic testing in this population. While informed consent and shared decision-making are established standards in health care, there are no guidelines on how to effectively engage/support patients in the MTP decision-making process, nor how uncertainty should be managed in this complex area. The current data will inform future policy and practice.