What innovation have you seen enhance diagnostics for patients with autoimmune diseases?

Stanley Naides: We have learned how to better use tests. There are also new and exciting diagnostic markers. For example, a protein in the joint lining cells called 14-3-3eta acts as a “chaperonin.” It does what my job was at my daughter’s first dance: make sure she got home without detours. 14-3-3eta shuttles other proteins to the correct location in the cell, thereby regulating cell function.

In rheumatoid arthritis (RA), 14-3-3eta is excreted into the joint fluid and promotes inflammation in the joint. 14-3-3eta leaks out of the joint fluid and can be measured in serum as an early diagnostic marker for RA. What makes it innovative is that it is the first inflammatory marker that is unique to the joint. Previous markers of inflammation are systemic in that they can come from any part of the body that is inflamed.

"Symptoms of autoimmune disease are often nonspecific, intermittent and mimic other diseases."

Chase Spurlock: The era of personalized medicine is here, and diagnostic innovation is focused on early identification of disease while linking a diagnosis to actionable results in the clinic. Today, we have access to more data than ever before through new technologies. We focus on gene expression-based testing.

Gene expression is a measurement of gene activity at the cellular level, giving us a snapshot of what’s happening in a patient’s body. Next generation sequencing, including whole genome RNA sequencing, allows us to look globally at changes in gene expression. Decoding the information contained in immune cells across the entire genome greatly enhances our knowledge of the molecular portrait of autoimmune disease and enables us to identify new biomarkers that aid in disease diagnosis and choice of treatment options.

What is the most important thing patients should know about diagnostics for autoimmune disease?

SN: Diagnosing autoimmune disease requires a global approach that includes medical and family history, a physical exam, lab testing, X-rays and imaging. Often, multiple tests are required because autoimmune diseases share features with other conditions, including underlying mechanisms, symptoms, signs, lab markers and imaging findings. Since multiple organ systems can be affected by an autoimmune disease, input from multiple specialists is often required and the primary care physician acts as the organizer and front-line eyes and ears for the team.

CS: The diagnosis of autoimmune disease can be a long, complicated and frustrating process that can take years. Symptoms of autoimmune disease are often nonspecific, intermittent and mimic other diseases. As a result, providers struggle to reach an accurate diagnosis quickly. The diagnosis of autoimmune disease is a clinical determination, and the providers will likely turn to several conventional diagnostic tests to make this clinical decision.

Patients need to know that there are new diagnostic tests being brought to market. Tests that facilitate early diagnosis will improve outcomes and quality of life through early therapeutic intervention.

"Early diagnosis is also important because many autoimmune diseases cluster within a family."

How important is it for patients to get tested early?

SN: We have made great progress in developing effective therapies for many autoimmune diseases. Take rheumatoid arthritis (RA), which affects up to 1 percent of the population, for example. Today, it’s not your grandmother’s arthritis. We have any number of drugs, used singly or in combination, that can control this disease and even put many patients into remission.

But to get the best results, early diagnosis and treatment, which may prevent joint destruction and damage in the case of RA, are very important. Early diagnosis is also important because many autoimmune diseases cluster within a family. If you have a family member with an autoimmune disease, you want to report symptoms or signs you experience to your physician as soon as possible so they can evaluate you.

CS: Testing at the earliest onset of symptoms means a quicker path to effective treatment. The treatments for many autoimmune diseases are highly effective, and early initiation of therapy has been shown to reduce the chance of long-term disability. We believe that when providers are equipped with tools that speed time to diagnosis and effective treatment, it will limit damage to the cells, tissues and organ systems giving the patient an opportunity for a better long-term outcome.