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Unlocking the Power of Precision Medicine – the Rheumatology Example

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What is precision medicine?


Precision medicine, also referred to as personalized medicine, is the opposite of a “one-treatment-fits-all” model, instead tailoring disease prevention, diagnosis and treatment based on a person’s own genes or proteins as well as potentially their environment and lifestyle. According to the Precision Medicine Market Report 2022-2023, the increase in scope of application of precision medicine is expected to propel market growth as the leading precision medicine disease focus, oncology, is joined by immunology, central nervous system (CNS), respiratory and other diseases.


Specific to cancer, over the past several decades, researchers, scientists and therapeutic manufacturers in oncology have significantly improved treatment outcomes by embracing this precision medicine approach, with some advancements even called “revolutionary”. Today, cancer patients often undergo molecular tests and genetic profiling to align the physician’s treatment selection with the drug most likely to improve a particular patient’s prognosis. This recognizes that no two cancers are the same, no two patients are the same, and even within established categories, such as breast cancer, different therapeutics will benefit different individuals.


Advances made in oncology are setting a precedent for what’s possible in personalized medicine scenarios in other areas and powerfully impacting what the future of tailored care will mean.


Translating oncology precision medicine success into effective autoimmune treatment


Industry visionaries focusing on other disease states and optimizing treatment outcomes are applying the learnings from cancer precision medicine to their own specialties. Rheumatology is one such field. As the prevalence of autoimmune conditions, currently estimated to affect about 3 percent of the US population, increases, it becomes more critical to address individual cases with effective treatments. Like cancer, the underlying factors and disease progression for autoimmune conditions such as lupus, rheumatoid arthritis (RA) and Sjogren’s Syndrome vary among those afflicted, and so should the treatment approach.


What makes the promise of precision medicine so appealing to both physicians and patients with autoimmune conditions is that currently, especially for RA, successful treatment response rates to existing therapeutics vary widely and this may be due to physicians taking the “one-medication-fits-all” approach with first-line therapeutics.


An increase in treatment options for RA has emerged in recent years, particularly when it comes to the development of dozens of targeted immunomodulators (TIMs) across five main types of mechanisms of action. However, despite the growing number of TIMs approved to treat RA, drug selection remains a process driven by empirical physician judgment and influenced by insurers’ drug formulary rules. Phase 3 trials for virtually all RA drugs demonstrate a “treatment ceiling” whereby approximately 40 percent of patients do not achieve minimal response, and as many as 80 percent do not achieve a major treatment response.


By utilizing a more personalized approach to autoimmune conditions, starting with an accurate diagnosis, physicians can better inform patients and prescribe treatments that hold the most promise for individual symptom relief and in some cases, have the potential to halt disease progression.


Targeted therapy potentially achieves personalized clinical response


Emerging, innovative diagnostic technology promises to change the current trial and error of assigning treatment protocols for RA, fostering a breakthrough of the treatment response ceiling with drugs that are currently available. Taking a page from oncology, new molecular tests are now a viable option for linking individual patients to the targeted therapy that has the greatest potential for personalized clinical response.


Specific to RA, there are approximately 1.5 million people with the condition in the United States with about 120,000 new diagnoses each year. Targeted biologic therapies in RA are among the largest categories of therapeutic spending in the United States. So, while treatment options are widespread, the key to unlocking the potential of the most effective RA treatment for those affected is in molecular characterization of the synovium – the portion of the joints where the drivers of RA damage/progression are present.


The ultimate outcome: changing lives and significantly reducing healthcare costs


These tests, through synovial biopsies, will provide physicians a new approach to the traditional standard of care model. In addition to the obvious benefit of providing more targeted, effective solutions to patients, the tests will also save them time by mitigating repeated trial and error attempts with targeted biologics that leave RA patients without symptom relief while an effective drug is identified. As an example, a study published in Nature Medicine on May 19, 2022, demonstrated that molecular profiling of synovial joint tissue might greatly impact whether certain drug treatments would be effective in treating RA patients.


Furthermore, there is an additional cost benefit: personalized medicine in RA has the potential to reduce billions of dollars spent annually on drugs that do not yield adequate disease control.


Taking a lesson from other disease areas, the potential for innovative diagnostics and a precision medicine approach in treating a variety of autoimmune diseases, including RA, is becoming more and more of a reality and will pave a path to more positive patient outcomes.