Precision medicine in Australia: now is the time to get it right

To the Editor: O'Shea and colleagues1 have highlighted the importance of precision medicine and recognised that health care systems are struggling to adapt to new genomic innovations. New technologies are frequently distributed unevenly and follow socio‐economic gradients, and health care systems have a responsibility to ensure equitable access.2 In South Western Sydney, there is a significant population of culturally and linguistically diverse people whose genetic risk factors for cancer development and treatment are different to those of the greater Sydney population. Consequently, the Department of Anatomical Pathology at Liverpool Hospital has offered next generation sequencing (NGS), using the 50‐gene Oncomine Precision Assay (ThermoFisher Scientific) for multiple tumour streams, including non‐small cell lung cancer (NSCLC) and colorectal cancer. A nine‐month internal audit of 400 patients has found that 77% of patients with stage IV NSCLC and 82% of patients with stage IV colorectal cancer had at least one gene mutation identified using this panel. Currently, the European Society of Medical Oncology has put forward a clinical scale of actionability of molecular targets, ESCAT, to help clinicians understand the utility of genetic variations in cancer.3 The guidelines define mutations from tier I to tier X based on degree of actionability. The NGS results found that 56% of patients with colorectal cancer and 50% of patients with NSCLC had tier I mutations, defined as those with clear evidence of clinical actionability. Twenty‐one per cent of patients with colorectal cancer and 28% of patients with NSCLC had tier II or III mutations with potential actionability. In addition to providing access to standard of care treatments, NGS provides a means for patients to access novel clinical trials. In our cohort, about 45% of both NSCLC and colorectal cancer patients had additional mutations on the 50‐gene panel that are currently being investigated in early phase clinical trials. Standardisation and funding of testing across Australia is critical to prevent inequities of access to testing, especially in patients in South Western Sydney with lower rates of private health insurance, high rates of socio‐economic disadvantage and low rates of health literacy. Currently, there are a limited number of centres available in New South Wales to provide NGS testing and, thus, now is the right time to get it right for all Australians.