BY Susanne Munksted, Chief Precision Medicine Officer, Diaceutics, Kevin Entwistle, VP, Precision Medicine Strategy Services, Diaceutics, Helen Sadik, Precision Medicine Strategy Advisor, Diaceutics, Alasdair Milton, PhD, Principal, Healthcare and Life Sciences Strategy, KPMG
In this ever-evolving healthcare landscape, precision medicine (PM) has emerged as a game changer promising to revolutionize patient care, especially cancer care. By tailoring medical treatments to each patient’s characteristics, precision medicine has the potential to lead to better outcomes while minimizing unnecessary treatments and adverse effects. As such, it is providing benefits to all stakeholders, from patients and healthcare providers to labs, payers and pharmaceutical companies.
With advancements in molecular and genomic sequencing, data analytics, artificial intelligence and drug design tools, the development and commercialization of targeted therapies have been accelerated, bringing personalized medicine closer to patients. In 2023, about 40% of all FDA drug approvals were precision therapies. However, despite its promise, the clinical implementation of PM has been met with challenges and setbacks, with recent analysis highlighting how around two-thirds of advanced non-small-cell lung cancer patients are not receiving the right testing or treatment at the right time.
Let’s examine some of the practice gaps in the patient journey that are preventing the full realization of precision medicine and how we can more optimally overcome them.
Understanding the clinical practice gaps
Take newly diagnosed advanced non-small-cell lung cancer as an example, a cancer where PM has become a mainstay, with at least 10 established biomarkers and more than 25 precision therapies approved. Yet real-world evidence suggests a grimmer situation; only around one-third of newly diagnosed patients eligible for targeted therapies are appropriately tested and treated. Because the patient journey in the PM era is complex and ever evolving, with many different steps and stakeholders involved, any inefficiency along this pathway can limit the optimal delivery of PM.
In particular, 29% of patients are not treated appropriately because of issues related to diagnostic testing, including challenges with biospecimen collection and evaluation (e.g. insufficient tissue or tumor content or subtype misdiagnosis), issues with test performance and quality, and long turnaround times that could be beyond the optimal treatment decision window.
Central to the success of PM is the accurate testing and identification of biomarkers that will guide treatment decisions. However, about 20% of patients have a suboptimal biopsy or do not have a molecular test requested or performed after treatment initiation, limiting the benefit of appropriate targeted therapies. This is commonly driven by high diagnostic cost or reimbursement constraints, reduced accessibility, or lack of guideline awareness or trust/confidence in PM.
And even when all challenges related to diagnostic ordering and testing are overcome, about 15% of physicians fail to act on positive predictive biomarker testing results, which can lead to poor outcomes. There are multiple reasons for suboptimal treatment decisions, including lack of physician awareness or guidance, high therapy cost, reduced insurance coverage, and limited access to targeted therapies, as well as patient health or choice.
Furthermore, the accurate interpretation of test results remains a key factor limiting appropriate treatment decisions, especially with the rapidly growing treatment and testing PM landscape. Unfortunately, these gaps are not exclusive to non-small-cell lung cancer. Similar barriers have been observed in the management of other cancer types and diseases, highlighting the magnitude of the problem.
Overall, the impact of clinical practice gaps is profound, affecting both patients and healthcare systems. From a patient perspective, delayed or inappropriate testing and treatment can impact their prognosis, survival and quality of life. On a broader scale, these practice gaps can contribute to more inefficiencies in healthcare systems with suboptimal resource utilization and increased healthcare costs. This underscores the urgent need for strategies to optimize the implementation and widespread adoption of precision medicine.
Moving forward: Addressing the clinical practice gaps through multistakeholder engagement
Further investigation and investment to reduce all clinical practice gaps are needed. Incremental improvements in only a few steps of the patient journey would not dramatically change this grim trajectory as it will still be built on a suboptimal precision testing ecosystem. Therefore, this broken system will only be amended when a broader ecosystem of stakeholders are engaged and collaborating to ensure no patient is left behind.
This starts with educating and empowering patients on PM to actively participate in their care journey. Studies have shown that this correlates with higher rates of biomarker testing, uptake of personalized therapies, and clinical trial enrollment. In addition, improving physician education and awareness of PM, as well as supporting them in better utilizing it (e.g. through a multidisciplinary tumor board) is another critical first step in bridging the clinical practice gaps. This will help physicians choose the most appropriate molecular assay, better understand its limitations, and make more insightful treatment decisions (or clinical trial enrollments) that will benefit their patients.
Equally important is the education and support of labs. Indeed, labs sit in the middle of the patient journey and are key in ensuring high-quality, reliable and efficient biomarker testing. Their interactions with physicians (whether direct or indirect through the test report) can influence treatment decisions.
Finally, pharma also plays a pivotal role, not only in driving equitable access to both testing and treatment but also by supporting clear and improved communication, collaboration and guidance among the different stakeholders.
In sum, although precision medicine holds enormous potential, its full realization requires a thorough understanding of the clinical practice gaps and a proactive strategy to address them. Every step optimized and every gap eliminated moves us closer to fulfilling the potential of precision medicine, thereby improving patient outcomes, decreasing costs and standardizing care worldwide.