RNA-based Blood Test Can Detect Fibromyalgia

MedicalResearch.com interview with:

Dr. Chase Spurlock, PhD CEO, IQuity, Specialty Diagnostic Technologies Faculty, Vanderbilt University Medical Center

Dr. Chase Spurlock

Dr. Chase Spurlock, PhD
IQuitySpecialty Diagnostic Technologies
Faculty, Vanderbilt University Medical Center

Dr. Spurlock discusses IQuity’s release of IsolateFibromyalgia, the first RNA-based blood test to detect fibromyalgia.

MedicalResearch.com: What is the background for this test? Would you briefly explain what fibromyalgia is, whom it affects and why it has been difficult to definitely diagnosis? 

Dr. Spurlock: We developed the IsolateFibromyalgia™ test using our established RNA assay platform, IQIsolate™, to help clinicians receive timely and accurate information. This technology has evolved from over a decade of research at Vanderbilt University and continues at IQuity funded by both the National Institutes of Health (NIH) as well as private investors. We discovered that differences in RNA expression patterns could be detected in patients with a variety of human conditions spanning infection to more complex inflammatory diseases. With our focus on autoimmune disease, we identified and validated RNAs capable of distinguishing multiple sclerosis, IBS, Crohn’s, ulcerative colitis and fibromyalgia syndrome. In the case of fibromyalgia, our research involved almost 600 subjects including healthy individuals, patients with endocrine conditions, dermatologic conditions and rheumatologic diseases — rheumatoid arthritis, Sjogren’s syndrome and systemic lupus erythematosus. Reported sensitivity and specificity of this assay is 92 percent and 96 percent, respectively.

Fibromyalgia syndrome is characterized by widespread musculoskeletal pain often initially localized to the neck and shoulders. Patients typically describe pain throughout the muscles but may also report pain in the joints. Furthermore, fibromyalgia is usually accompanied by fatigue as well as cognitive disturbance. Patients most afflicted are women between ages 20 and 55. Fibromyalgia affects approximately as many as 6-10 million people in the U.S.

The difficulty in reaching a definitive diagnosis lies in two important issues. First, the cause of the syndrome is unknown, and the way the condition presents and progresses can vary among patients. Secondarily, fibromyalgia syndrome mimics many other conditions due to the multiple nonspecific symptoms associated with fibromyalgia. Patients look well, there are no obvious abnormalities on physical examination other than tenderness, and laboratory and radiologic studies are normal. With no discernable abnormalities in routine clinical laboratory testing or imaging, the diagnosis is based on subjective reporting of symptoms.

The difficulties and complex nature of receiving a correct fibromyalgia diagnosis are apparent. Despite improved awareness among primary care clinicians, many continue to be uncomfortable with making this diagnosis. Fibromyalgia patients on average wait almost a year after experiencing symptoms before seeing a physician and end up visiting on average 3.7 different physicians before a diagnosis. The diagnostic journey can take years. IsolateFibromyalgia provides the clinician and patient actionable information with 94 percent accuracy.

MedicalResearch.com: Would you explain how RNA analysis makes IsolateFibromyalgia feasible?

Dr. Spurlock: RNA-based testing is relatively new. The science behind these techniques makes them a reliable method for helping physicians make fast, accurate decisions.

Simply put, DNA makes RNA and RNA makes protein. RNA carries out the instructions found in our DNA. RNA is a highly dynamic molecule. The majority of our genome is transcribed into RNA, meaning there is a great deal of molecular conversation going on within the cells of the human body.

Traditionally, researchers were taught to focus solely on the regions of our genetic code that made protein; the rest was considered “junk DNA.” There are regions of the genome that give rise to RNAs, but these RNAs do not produce protein. A particular class of RNA, long non-coding RNA (lncRNA), is a powerful regulator of RNA activity and plays an important role in the biology of human health and disease. These RNAs have an influence on proteins in spite of their inability to make the protein. Certain classes of RNAs can turn genes on and off, regulating what we call gene expression. The intensity of these expression patterns can serve as an indicator of the presence or absence of disease.

Analysis of RNA expression paints a molecular portrait of what’s going on in an individual’s cells at a given point in time. These RNA signatures are unique to the disease or condition. Through machine learning, we were able to create computer algorithms capable of analyzing the RNA markers in a patient’s blood sample, enabling providers to quickly and accurately determine whether a patient does or does not have the disease. The IsolateFibromyalgia test delivers a “yes” or “no” result with 94 percent accuracy, distinguishing fibromyalgia from other conditions and healthy controls. This test reduces, or could even eliminate, the need to test for other disorders, thus speeding the time to diagnosis.

MedicalResearch.com: What should readers take away from your report?

Dr. Spurlock: Clinicians making diagnosis and treatment decisions will now be able to see if the RNA profile of their patient looks like fibromyalgia or not in one simple report.

MedicalResearch.com: What recommendations do you have for future research and testing as a result of this study?

Dr. Spurlock: Our research continues, and we recently received funding from the National Institutes of Health to further develop RNA technologies that can be used to diagnose autoimmune and related conditions like fibromyalgia.

From this research, new opportunities could emerge that permit:

  1. The identification of new therapeutic targets to treat inflammatory and related conditions like fibromyalgia.
  2. The identification of targets to monitor disease progression or treatment responses in autoimmune and related diseases.

MedicalResearch.com: Is there anything else you would like to add? Any disclosures?

Dr. Spurlock: Our goal has always been to translate our discoveries to the bedside to ensure all stakeholders – patients, providers and payors – benefit from advances in science and technology that improve diagnostic capabilities, ensuring that patients get treatment sooner, leading to better long-term outcomes. Our tests provide actionable information, and in the case of fibromyalgia, it means this is no longer a diagnosis of exclusion. New technologies like RNA testing also bring greater efficiency to the practice because clinicians and patients are no longer struggling to find answers.

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Last Updated on March 13, 2018 by Marie Benz MD FAAD