Over the last 20 years, scientific and technological advances have created more sophisticated precision medicine solutions that deliver better and more personalized care to patients. This approach has already fundamentally transformed the way we diagnose, prognose, and treat oncology patients, and holds great promise for the management of a variety of chronic conditions.
As precision medicine continues to move forward, it’s time to expand what we have learned through oncology and its personalized, science-backed solutions to other areas of unmet need. One of the greatest unmet medical needs that exists is in the management of chronic, neurodegenerative diseases like multiple sclerosis (MS).
Neurodegenerative diseases affect neurons in the brain, spinal cord and peripheral nervous system causing them to deteriorate over time resulting in loss of function. There are no known cures for neurodegenerative diseases, which include MS, Parkinson’s, Alzheimer’s, ALS, and Huntington’s, however several are treated with disease modifying treatments or therapies that address symptoms
Like other neurodegenerative diseases, MS is a complex disease with significant heterogeneity and affects all patients differently. With MS, a person’s immune system mistakenly attacks the central nervous system, specifically the protective covering called myelin, causing damage or the loss of axons. The underlying disease is driven by immune modulation and neuroinflammation. These attacks can slow or even stop nerve impulses, through which the brain communicates to other parts of the body, resulting in a broad range of symptoms. The scope and severity of this can vary from patient to patient or even from day to day for a single patient.
MS is a progressive, life-long disease. A typical MS patient is diagnosed between age 20 and age 40, and lives for 25 to 35 years after diagnosis. However, effects of the disease are quickly life-changing – for example, up to half of patients are unable to perform daily household activities or maintain daily employment within 10 years of onset, even when undergoing treatment.
MS is challenging to diagnose. Symptoms can be mistaken for those of other conditions such as migraines or fibromyalgia, and other conditions can be mistaken for MS. One retrospective study showed that 40% of patients with MS had an extended time to diagnosis, defined as two or more years from the first symptom, and 23% had an extended time until they were put onto disease-modifying treatment, delaying the opportunity to treat the disease. Although the situation is improving, it still takes too long.
In addition to being difficult to diagnose, MS is also complex to manage. The tools to assess the inflammation, loss of myelin and nerve fiber damage – signs of disease activity and progression – are inadequate. Early diagnosis tests are virtually non-existent. Currently, MS is managed largely by subjective and qualitative measures, often dependent on the patient’s input which can be highly variable, and what their doctor can observe. In addition, MRIs, which should be objective and quantifiable, are often inconsistent and inconclusive due to a number of factors, including the quality of MRI machines, the lack of standard protocols, the lack of lesion quantification and contextualization of results, and variable radiologist interpretation. Historically, the tools that have existed to manage these patients are subjective and inadequate.
Finding the right treatment can also be a challenging journey. Today’s patients are fortunate to have a range of disease-modifying therapies (DMTs) – until the mid-1990s, there were none. DMTs are designed to lower the level of disease activity, slow the progression of disease, reduce the number of relapses, and delay progression of disability. However, there are now more than 20 DMTs available, and selecting the right one is often a matter of trial and error. There are few tools available to guide this process and ensure optimal treatments for the patient.
The typical course of treatment selection begins with one drug being prescribed by the neurologist, usually based upon treatment efficacy, safety, tolerability, patient preference and/or convenience, and the decision can be overwhelming. Further, it takes an extended period of time to determine whether a patient is responding to the treatment, as evaluated by the number and severity of relapses, whether the number of lesions visible on MRIs is increasing, and the observation of worsening disability. If the patient and the physician determine that the therapy is not producing the desired effect, they transition to a new therapy and begin the process again. Even when patients do find a treatment that works, there may be tolerability, adherence, and compliance issues. Moreover, therapies may become less effective over time as the immune system changes.
Getting patients on the right therapy early is important to delay progression and maintain or improve quality of life. The longer it takes to identify the right therapy, or determine that a current therapy is not working, we are potentially missing an opportunity to delay or halt disease progression. With therapies costing upwards of $80-$100k annually, ineffective treatments are a burden to the system, and – more importantly – negatively impact patients and their families. The total lifetime cost for the management of MS is in excess of $4M, which includes hospitalizations, drug treatments, physical therapy, treatment of associated conditions like sleep disorders and depression, and professional in-home programs.
These challenges and issues represent an enormous opportunity for innovation. In the case of MS, we need a new paradigm, where physicians and patients for the first time have a holistic view of the entire patient.
That could be a precision medicine solution combining a unique blood biomarker test, enhanced MRI insights, and a clinical insights program that combines innovative technologies, such as mobile tools and sensors, with personalized patient support programs. It’s possible that the combination of fluid biomarkers, imaging, and clinical insights is able to provide a wealth of data about what is happening on a day-to-day basis in between doctor visits. This could potentially – save time and cost to the system, and enabling better disease management.
Precision medicine for neurodegenerative conditions has the potential to radically change the way patients are treated and managed over time. As an industry, we must continue to expand our thinking and push the boundaries of science, technology, and data analytics to capture precision medicine opportunities in broader areas of unmet medical needs. All of this represents a significant advancement for those living with neurodegenerative diseases – and this is just the beginning.