Developing diagnostic tests for spondyloarthritis

Symptoms of spondyloarthritis often start in early adulthood, disrupting careers, relationships, and family life. Currently, the delay in diagnosing spondyloarthritis is unacceptably long, averaging 3 to 7 years, which can profoundly impact employment, mental and physical well-being. A major reason for this delay is the lack of tests to help doctors make timely referrals and diagnoses. Since genes play a large role in why people develop spondyloarthritis, genetic information can aid diagnosis. Early studies of axial spondyloarthritis (axSpA) have shown promise, but more research is needed to test genetic risk scores (GRS) in populations that better represent healthcare settings. Research is also needed to develop GRS for psoriatic arthritis (PsA). However, genetic information has limitations; for example, it cannot reflect potentially important lifestyle factors. Genetic data can help develop tests for blood proteins, addressing many of these limitations. My project goals include: Testing a GRS for axSpA to help GPs assess and refer people with inflammatory back pain, and hospital specialists in referring people with uveitis, psoriasis, or inflammatory bowel disease. Creating a GRS for PsA to enhance early referral and diagnosis in people with psoriasis. Using GRSs to distinguish types of inflammatory arthritis to aid rheumatologists in making accurate diagnoses when routine assessments are unclear. Creating blood protein tests for axSpA and PsA to complement and enhance the accuracy of genetic tests. Identifying barriers to implementing these tests, which will help research findings to become part of routine care. Successful diagnostic tests can lead to faster referral and diagnosis, improving quality of life and long-term health for people with spondyloarthritis. Reducing the time to diagnosis to one year could save up to £167,000 per person in healthcare costs, lost work productivity, and out-of-pocket expenses. These tests can also help doctors make more accurate diagnoses when routine assessments are unclear, leading to quicker and better treatment decisions. I am uniquely positioned at the centre of a wide network of researchers who can provide access to extensive data and expertise. This includes biobanks of over half a million people in the UK and United States, large studies of back pain and inflammatory diseases, and the largest protein study to date. Success of this project is underpinned by my substantial experience and support from world-leading researchers at my institute. I will keep working closely with research partners with lived experience, charities, and professional societies to ensure that research findings are accurately interpreted and widely shared with relevant stakeholders. I will also engage diverse patient groups, including different ethnicities and age groups, to ensure that a representative range of perspectives is involved in discussions. This project aligns with Versus Arthritis’ priority on “Early Detection”, National Axial Spondyloarthritis Society’s focus on reducing diagnostic delay, and issues that matter most to people with PsA identified by the James Lind Alliance. By addressing a critical unmet need, this project has the potential to transform the diagnostic process, providing faster, more accurate diagnoses and improving care for people with spondyloarthritis.