Precision medicine is a powerful tool for the treatment of cancer and rare diseases, with broad potential to change the prognosis of patients. Although great progress has been made, many patients’ disease molecular drivers cannot be detected, interpreted, and acted upon through precise therapies, thus putting potentially life-changing treatments on the table.
Although there is more and more scientific evidence, there are still many obstacles to the implementation of precision medicine in practice. Extensive cooperation between the industry and key stakeholders (patient organizations, multidisciplinary medical teams, laboratories, and payers) is needed to overcome these challenges and give more patients the opportunity to receive these life-changing therapies.
Precision oncology methods and the drivers of progress to date
Our industry has made great strides in developing more and more precise drug libraries for cancer patients by identifying molecular changes that lead to abnormal growth and tumor formation, and discovering drugs that precisely target these changes. Our goal is to continue to expand the number of molecular drivers that can be identified and acted upon through approved or research targeted therapies.landmark Learn It has been shown that the use of biomarker testing and the resulting ability to treat NSCLC patients with precision drugs has led to significant Improve overall survival. The introduction of precision therapy for patients with changes in driving genes such as EGFR, ALK and RET has improved the clinical activity of newly-treated patients and supported more precision medicine in the first-line environment.
The education and activation of patients and caregivers also drives adoption.To accelerate these efforts, LUNGevity is taking the lead cooperate Involve patients, advocates, and industry partners (including Blueprint Medicines) to apply consistent test terminology. The ultimate goal is to make this information easier for patients. Since the Center for Medicare and Medicaid Services (CMS) made the final nationwide coverage decision, additional progress has been made in obtaining testing to support reimbursement for next-generation sequencing of all solid tumors. The Oncology Care Model, a specialist payment and delivery model, is composed of CMS Innovation Center, Is providing incentives, leading to a surge in the network of large community providers implementing precision medicine programs.
Work together to overcome obstacles
For general medical oncologists, one of the biggest obstacles is mastering the latest testing recommendations for multiple tumor types. Solving this obstacle requires collaborative efforts to encourage the implementation of a system-wide biomarker detection program for specific tumor types. Another opportunity is to integrate test results into electronic medical records so that the information can be easily accessed when doctors make treatment decisions. Finally, the implementation of clinical decision support tools can enable doctors to obtain biomarker detection information tailored to the clinical conditions of the patients they are treating, and save them from having to recall specific detection and treatment plans for each type of tumor being treated.
Traditionally, it is believed that cancer patients may not want to wait for biomarker test results before starting treatment. For patients who need to start treatment urgently, the delay in receiving these results (which may take 2 to 4 weeks) is a barrier. However, we heard from doctors that some patients may be willing to wait if they understand that test results are needed to determine whether they are eligible for a therapy tailored specifically to treat their cancer.
Rare disease precision medicine opportunities
The Personalized Medicine Alliance is one of the groups advocating more adoption of precision medicine methods, including methods other than cancer and cancer — currently the most used — and assessing how more integration of these practices in the health system can lead Improve resultsIn view of the rapid increase in the number of targeted therapies for rare diseases driven by a single gene change, these efforts are very important. Unlike patients with ordinary solid tumors, patients with rare diseases often see multiple different experts for diagnosis for many years. This “diagnostic Odyssey” is mainly due to the lack of understanding of this rare disease by clinicians; in addition, these patients may have a series of non-specific symptoms, which makes the diagnosis more challenging. There is an urgent need to advance precision medicine methods in rare diseases to achieve timely diagnosis and optimal patient care.
At Blueprint Medicines, we are seeking to overcome these challenges in systemic mastocytosis (SM), a rare blood disease primarily driven by the KIT D816V mutation. SM is associated with various unpredictable and debilitating symptoms, such as fatigue, allergic reactions, itching, diarrhea, and brain fog. In patients with advanced SM, the disease can cause organ damage. The disease is traditionally determined through complex diagnostic tests, including bone marrow biopsy. However, when doctors suspect SM, a new, highly sensitive, blood-based test can identify patients with the KIT D816V mutation, and it may serve as an initial screening test and democratization test. Blueprint Medicines is working with national laboratories to promote the adoption of this method, and recently launched a sponsored testing program to help a wider range of patients access these tests. At the same time, we have developed educational resources to highlight the hallmark symptoms of SM that may cause clinicians to suspect the disease and adopt these screening methods.
We must systematically apply the diagnostic technology and precision therapies we have on hand, so that more patients can benefit from precision medicine. Since targeted therapy will inevitably appear drug resistance, we must also pursue the goal of predicting and responding to disease development. In the future, I envision several advancements to implement precision medicine more seamlessly: non-invasive testing can be tested earlier and more frequently at key decision points, and more specialized therapies can be applied in sequence or in combination at each time Points, and a wider suite of tools to simplify testing and treatment options for healthcare providers. Our goal should be to keep ahead of disease. Achieving this ideal state will require the coordinated work of the entire precision medicine ecosystem.
Photo: pagadesign, Getty Images
