Precision Medicine is Leaving Behind Patients with Autoimmune Diseases
Precision medicine, which makes it possible to tailor healthcare using an individual’s genomic information, has provided enormous benefits to cancer and rare disease patients, however patients with chronic autoimmune diseases are largely missing out on this medical revolution. That’s a major oversight given the breadth of autoimmune diseases and their impact on healthcare costs. What is needed to make a difference for these patients, and the healthcare system, is to rethink precision medicine approaches for autoimmune diseases.
According to the National Institutes of Health, there are more than 80 recognized autoimmune disorders — including lupus, multiple sclerosis, rheumatoid arthritis, and inflammatory bowel disease — that affect more than 23 million people in the U.S. alone. To put these numbers in perspective, cancer affects up to 9 million and heart disease up to 22 million. Collectively, these disorders account for more than $100 billion in healthcare costs in the U.S. each year, and that number is growing. While most patients live a full life, albeit with chronic health problems, autoimmune diseases are among the top 10 leading causes of death for girls and women up to age 64.
Americans affected by autoimmune disease
3 quarters of people with autoimmune diseases are women
in development to treat autoimmune diseases
30-50% Autoimmune Patients go undiagnosed or misdiagnosed
Adding to the challenges of managing these chronic disorders is a decrease in the number of doctors specializing in autoimmune diseases. Patients have a critical need for frequent monitoring to help manage disease flares and keep symptoms under control. Over 300 new biological therapies are in the pipeline for this category, but the long-term health economics of these expensive treatments are poorly understood. And the tools to guide response and control are expensive, inconvenient, and lacking in precision.
The Precision Medicine that has advanced in cancer is largely based on analyzing an individual’s DNA. But, for patients with autoimmune diseases, DNA has yielded little in understanding immune response and disease activity. RNA, DNA's dynamic cousin, reflects genes that are active at any given moment and provides unique insights into therapy response, disease activity and risk of disease flares ups or disease progression.
In much the way that diabetes patients can fine-tune their insulin levels based on routine self-monitoring, regular RNA assessments would allow physicians to address changes more quickly for improved disease management. Patients and physicians could avoid the frustrating trial-and-error process, selecting the best treatment for each patient based on their personalized data, and improve communication with respect to disease status and changes over time. It’s not hard to imagine that patients who suffer from these chronic diseases could live more confidently with streamlined, convenient, and frequent monitoring.
Thankfully, this isn’t some pie-in-the-sky concept. RNA monitoring has become a mainstay in clinical research, where the technologies involved have been rigorously validated. Scientists are making rapid progress in understanding the RNA biomarkers that matter most for diagnosis and prognosis of autoimmune disease, as well as for evaluating current disease activity. As these advances come together and costs fall, frequent and remote monitoring will indeed be a reality for the autoimmune disease community, leading to more productive healthcare delivery and improved disease management over time. Ultimately, this will bring the tremendous benefits and promise of precision medicine — with its genome-guided care and personalized treatments — to the sizable autoimmune disease community and new hope to patients living with these debilitating diseases.
Robert Terbrueggen is CEO and Founder of DxTerity, a patient-centric genomics company bringing the power of real-world genomics with from-home RNA monitoring to improving the management of immune-mediated disease.