Autoimmune diseases occur when the immune system mistakenly attacks the body’s own tissues, often presenting with symptoms like fatigue, joint pain, muscle weakness, and skin rashes. These diseases vary between patients and can evolve over time, making them challenging for laboratory professionals and healthcare providers to accurately diagnose.
When multiple autoimmune diseases occur together – known as polyautoimmunity – patients can face overlapping symptoms and even greater uncertainty on their diagnostic journey. An estimated 25% of patients with one autoimmune disease develop another, which further complicates the diagnosis and management of their conditions. Though the diagnosis of polyautoimmunity is complex, it presents an opportunity for laboratories and physicians to work together to reduce time to diagnosis and prevent disease progression.
Early identification and the continual tracking of symptoms are vital to avoid long-term complications. Moreover, misdiagnosis or underdiagnosis can delay treatment for patients and negatively impact their health outcomes, leading to unnecessary follow-up testing and invasive procedures such as biopsies. For laboratories, unnecessary testing and misdiagnosis can disrupt their workflow efficiency and increase costs, affecting their overall performance.
Conventional diagnostic techniques can fail to capture symptom changes and other complexities around diagnosing polyautoimmunity, underscoring the need for new diagnostic strategies that combine technology, workflow, and collaboration between laboratories and clinicians. A proactive approach to implementing comprehensive and advanced diagnostics is not just an operational improvement for addressing and diagnosing polyautoimmunity – it’s a commitment to supporting better outcomes for patients facing challenging diagnostic journeys.
Early Recognition is Key
Diagnosing autoimmune diseases is rarely straightforward, but for patients living with polyautoimmunity, the path to a diagnosis can be especially long and complex. One major challenge with autoimmune diseases is the frequent delay in diagnosis, which can increase the risk of further damage due to disease progression. It takes an average of 4 doctors and 4 years for patients to receive an autoimmune diagnosis from first visit.
For patients, delays in diagnosis can result in their prolonged suffering from ongoing symptoms and even deterioration in their quality of life. 99% of individuals with autoimmune diseases report fatigue impacting their quality of life, while 89% say it also hinders their ability to work. Studies show that delays in diagnosis not only worsen physical symptoms, but they also contribute to significant mental health challenges, such as anxiety, depression, and mistrust in the healthcare system.
Early recognition of polyautoimmunity is key for patient’s health. Prompt and accurate diagnosis with appropriate treatment can improve health outcomes, shorten the diagnostic journey, and help prevent significant morbidity and further damage to the body.
Diagnostic Challenges for Autoimmune Diseases
With autoantibody testing, laboratories must ensure optimal clinical sensitivity and specificity of the tests while managing complex workflows. Autoimmune diseases are diverse, so high sensitivity in testing can help ensure that subtle, yet clinically significant, antibody levels are detected. Misdiagnosis or underdiagnosis is also a pervasive challenge in autoimmune diagnostics, making high specificity critical to avoid unnecessary treatments and patient anxiety, as well as limit additional unnecessary testing.
Unlike other straightforward testing, autoantibody tests usually trigger additional tests to confirm or refine diagnoses. However, the complexity and variability around these testing workflows pose challenges due to a lack of standardization. Adopting universal protocols and integrating technological advancements can help laboratories to streamline workflows and ensure diagnostic consistency.
Fully automated solutions like Phadia™ Laboratory Systems which run EliA™ autoimmune assays, allow labs to screen for multiple autoantibodies in parallel, supporting earlier, more accurate diagnoses of polyautoimmunity. These fully automated systems also deliver operational benefits, reducing hands-on time and increasing throughput. A workflow analysis at Geisinger Medical Center found that this solution reduced manual labor time by 38%, freed up an estimated $35,700 per annum in lab space, and significantly boosted efficiency and diagnostic capacity.
Diagnostic laboratories play a pivotal role in guiding the diagnostic decisions of physicians and clinicians. The test results generated are critical for helping to diagnose and manage autoimmune diseases, but the value of diagnostic laboratories extends beyond providing test results. Comprehensive involvement helps ensure that the diagnostic process is accurate and reliable, ultimately improving patient care.
The Key Role of Laboratory Autoimmunologists
Given the complexity and potential long-term harm of undiagnosed autoimmune diseases and polyautoimmunity, specialists in autoimmune diagnostics play a crucial role in managing unexpected results and identifying conditions. Their consultancy is especially valuable to non-autoimmunity specialists and general practitioners.
Laboratory autoimmunologists offer invaluable consultancy services, particularly in their interactions with non-autoimmunity specialists and general practitioners. A survey by the American Medical Association found that general internal medicine and family physicians value laboratory advice across key areas, including appropriate test ordering, sample collection and interpretative comments. This consultancy is crucial in managing unexpected results and investigating conditions like autoimmune diseases and presence of polyautoimmunity, which may not be easily recognized by individual physicians.
Preparing for the Rise in Polyautoimmunity
As autoimmune diseases and polyautoimmunity become increasingly common, diagnostic laboratories are uniquely positioned to help clinicians reduce time to diagnosis and advance patient care. To avoid being overburdened, laboratories need automated methods to enhance both accuracy and efficiency in autoimmunity testing, and it’s also critical that the appropriate tests are selected the first time, rather than increasing testing quantity, to reduce the risk of potential diagnostic errors. Additionally, labs should have clear communication with clinicians to reduce diagnostic timelines and support better patient outcomes, especially when initial results highlight the possibility of more than one autoimmune disease.
Leveraging comprehensive testing alongside innovative diagnostic technologies allows labs to simplify workflows, enhance accuracy, and keep pace with growing testing demands. By adopting these strategies, laboratories can strengthen their operations while equipping clinicians with precise results and meaningful insights to guide timely diagnoses. In addition to being an operational upgrade, embracing comprehensive, advanced diagnostics reflects a commitment to improving outcomes for patients navigating complex diagnostic challenges like polyautoimmunity.
Santhosh Nair
Santhosh is President of ImmunoDiagnostics (IDD) within the Specialty Diagnostics Group at Thermo Fisher Scientific, having taken up this position in June 2023. He leads the growth and innovation of the in-vitro diagnostic business in allergy and autoimmunity, with the ultimate goal of enabling millions of patients around the world to get the correct diagnosis for their allergy and autoimmune diseases.
Prior to this appointment, Santhosh held the role of Vice President and General Manager of qPCR Platforms at Thermo Fisher where he led the development and implementation of the business strategy for qPCR and managed revenue growth and profitability across research and molecular diagnostics markets.
Prior to joining the organization in 2019, he held senior leadership roles at the Intel corporation and also served in a number of engineering and product management roles over a 15-year career at GE Healthcare.
Santhosh has lived and worked in both Asia and the US and is excited to have relocated to Europe for his current role. He holds an MBA from The Kellogg School of Management, Northwestern University, and a Bachelors in Electronics and Telecommunications Engineering from the College of Engineering, in Trivandrum, India.
