Precision medicine is a powerful tool in the treatment of cancer and rare diseases, with broad potential to transform patient outcomes. While much progress has been made, many patients have molecular drivers of disease that are not detected, interpreted and acted upon with precision therapies, leaving potential life-changing treatments on the table.
Despite a growing body of scientific evidence, a number of roadblocks stand in the way of implementing precision medicine approaches in practice. Broad collaboration between industry and key stakeholders – patient organizations, multi-disciplinary healthcare teams, laboratories and payers – is needed to overcome these challenges and enable more patients the opportunity to receive these potentially life-changing therapies.
Drivers of precision oncology approaches and progress to-date
Our industry has made great strides developing a growing arsenal of precision medicines for cancer patients, by identifying molecular changes that lead to abnormal growth and tumor formation, and discovering medicines that precisely target these changes. Our aim is to continue expanding the number of molecular drivers that can be identified and acted on with approved or investigational targeted therapies. Landmarkstudieshave shown that the use of biomarker testing and the resulting ability to treat NSCLC patients with precision medicines leads to significantlyimproved overall survival. The introduction of precision therapies for patients with changes in driver genes like EGFR, ALK and RET have led to enhanced clinical activity in treatment-naïve patients, supporting increased adoption of precision medicine in the first-line setting.
Uptake has also been driven by patient and caregiver education and activation. To accelerate these efforts, LUNGevity is spearheading acollaborationinvolving patients, advocates and industry partners, including Blueprint Medicines, to apply consistent testing terminology. The ultimate goal is to make this information more accessible for patients. There have been additional steps forward in access to testing since the Centers for Medicare & Medicaid Services (CMS) instituted a final National Coverage determination, supporting reimbursement of next-generation sequencing across all solid tumors. The Oncology Care Model, a specialty payment and delivery model developed by theCMS Innovation Center, is providing incentives that have led to a surge of large community provider networks implementing precision medicine initiatives.
For general medical oncologists, one of the greatest barriers is staying on top of the latest testing recommendations across multiple tumor types. Addressing this obstacle requires collaborative efforts to encourage the implementation of system-wide, biomarker testing protocols for specific tumor types. Another opportunity is the integration of test results into electronic medical records, so information can be easily accessed when physicians are making treatment decisions. Finally, the implementation of clinical decision support tools can enable physicians to receive information on biomarker testing tailored to the clinical situation of the patients they are treating and free them from having to recall the specific tests and treatment options for every tumor type being treated.
Traditionally, there has been a perception that cancer patients may not want to wait to obtain biomarker test results before starting treatment. For patients who require urgent initiation of treatment, a delay in receiving these results, which can take from two to four weeks, represents an obstacle. However, we hear from physicians that some patients may be willing to wait if they understand that test results are needed to determine eligibility for therapies tailored specifically to treat their cancer.
Precision medicine opportunities in rare diseases
The Personalized Medicine Coalition is one of the groups advocating for increased adoption of precision medicine approaches including and beyond cancer – where use is currently greatest – and assessing how increased integration of these practices in health systems can lead toimproved outcomes. These efforts are important given the rapidly increasing number of targeted therapies for rare diseases driven by a single genetic change. Unlike patients with common solid tumors, those with rare diseases often see multiple diverse specialists over many years in pursuit of a diagnosis. This “diagnostic odyssey” is primarily caused by low clinician awareness of the rare disease; in addition, these patients can experience a range of non-specific symptoms that make a diagnosis even more challenging. Advancing precision medicine approaches in rare diseases is urgently needed to enable timely diagnoses and optimal patient care.
At Blueprint Medicines, we are seeking to overcome these challenges in systemic mastocytosis (SM), a rare blood disorder primarily driven by the KIT D816V mutation. SM is associated with a wide range of unpredictable, debilitating symptoms, such as fatigue, anaphylaxis, itching, diarrhea and brain fog. In patients with advanced SM, the disease can lead to organ damage. The disease is traditionally identified through a complex diagnostic workup that includes a bone marrow biopsy. However, a new highly sensitive, blood-based testing approach that identifies patients with the KIT D816V mutation has the potential to serve as an initial screening test and democratize testing when doctors suspect SM. Blueprint Medicines is working with national labs to enhance adoption of this approach, and recently launched a sponsored testing program to help enable broader patient access to these assays. In parallel, we have developed educational resources that highlight hallmark symptoms of SM that may lead a clinician to suspect the disease and pursue these screening approaches.
It is imperative that we systematically apply the diagnostic technologies and precision therapies we already have at hand, so more patients may benefit from precision medicine. Because resistance inevitably emerges across targeted therapies, we must also pursue the goal of anticipating and responding to diseases as they evolve. In the future, I envision several advancements leading to a more seamless implementation of precision medicine: non-invasive assays enabling earlier and more frequent testing at key decision points,, an even greater number of purpose-built therapies to apply in sequence or in combination at each of these timepoints, and a broader suite of tools to simplify testing and treatment selection by healthcare providers. Our aim should be to continually stay one step ahead of disease. Achieving this ideal state will take the entire precision medicine ecosystem working together, as one.
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