Precision Medicine: A New Paradigm in Healthcare

Introduction

The world of healthcare is witnessing a paradigm shift. Precision medicine, grounded in a deep understanding of the molecular basis of diseases, is leading the way. This approach promises improved health outcomes, but it also poses challenges for the sustainability of equitable healthcare systems.

The Rising Cost of Healthcare

The cost of healthcare, as a fraction of gross domestic product (GDP), continues to rise in higher-income countries. This increase is linked to a demand for healthcare from growing and ageing populations and the high cost of drug development. The average cost of bringing a new drug to market is estimated at a staggering US$1.3 billion. This financial burden is prompting countries to explore innovative solutions to tackle the affordability crisis.

The Impact on Cancer Treatment

Cancer, primarily a genetic disease, is particularly impacted by these financial challenges. Genomic technologies and rational drug development are transforming cancer treatment. In 2018, the US Food and Drug Administration (FDA) approved biomarker-dependent medications, which made up 42% of all approvals. This was a twofold increase compared to 2014. However, the increasing gap between the potential of science to improve health and its affordability is a growing concern.

The Australian Solution

In March 2022, the Australian government announced its support for a radical approach – a AU$185 million public-private joint venture for precision oncology. This venture aims to address the current inefficiencies in drug development and proposes that affordable patient access to healthcare is achievable through collaborative engagement between governments and industry. While the primary focus is on precision oncology, the concepts are applicable to the overall sustainability of science-driven advancements in healthcare.

The Role of Biomarker-Dependent Drug Development

The increasing costs of new drugs have prompted a reevaluation of the economic viability of increased access to clinical trials. If the health system covers the standard-of-care treatment cost of $60,000 per patient per year, providing free access to a drug through a trial can offset treatment costs by $300,000 for 10 patients. Biomarker-dependent drug development offers a promising solution to the rising costs of new drugs. The more people access therapies via clinical trials, the better for the economic benefit to the health system. For industry, an efficient increase in clinical trials participation reduces the time to conduct trials and associated costs.

The Promise of Comprehensive Genomic Profiling

Comprehensive genomic profiling (CGP) can significantly transform the efficiency of identifying subpopulations for clinical trials. CGP enables the screening of hundreds of potential drug targets in a single assay, thus reducing the costs of drug development. If hypothetical, 10 companies run 10 studies to find a unique biomarker in 1% of the population, 2000 patients must be screened to find 20 with the appropriate biomarker for each trial. A 20-patient trial requires a $1 million screening budget because diagnostic screening tests cost $500 per person. If a trial costs $1 million (20 patients at $50,000 apiece), screening may account for half of the cost. The 10 trials would spend $10 million screening 20,000 individuals with 10 biomarker-specific testing.

Precision Medicine in Head and Neck Cancer

Precision medicine is making significant advances in the field of head and neck squamous cell cancer (HNSCC). Locoregional recurrences are a common issue (10–30%) in HNSCC, often occurring in patients with histologically negative resection margins (RMs). This is likely due to residual tumour cells or hidden precancerous lesions in normal mucosa, both of which can be missed by histopathological examination.

Next generation sequencing (NGS) and digital PCR (dPCR) are being utilised to profile TP53 mutational status and circulating microRNA expression. This helps in scoring the locoregional risk of recurrence through molecular analyses. Serial monitoring of these biomarkers allows the identification of high-risk patients, paving the way for accurate tracking of disease evolution and potential intensification of post-operative treatments.

Cost-Effective Precision Medicine

Precision medicine not only promises improved health outcomes but is also cost-effective. The use of NGS and dPCR in HNSCC, for instance, allows for accurate staging of RMs. This reduces the risk of unexpected locoregional recurrences, which can lead to costly treatments and interventions.

Further, the use of these tools in routine clinical practice is feasible and cost-effective in terms of patient sampling. This holds promise for the wider adoption of precision medicine, ensuring that more patients can benefit from personalised treatments while keeping healthcare costs sustainable.

Conclusion:

In conclusion, precision medicine is not only transforming healthcare by offering personalised treatments but is also addressing the sustainability of healthcare systems. Public-private joint ventures and cost-effective tools like NGS and dPCR are innovating approaches in precision medicine. These strategies are not only financially sustainable, but they also ensure improved health outcomes.