New Molecular Test Promises Earlier, More Accurate Lyme Disease Diagnosis
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A breakthrough at Dartmouth Hitchcock Medical Center offers hope for faster and more reliable lyme disease detection, potentially reducing the long-term complications associated with this increasingly prevalent illness. Researchers have developed a new diagnostic approach that addresses the limitations of current testing methods, paving the way for more prompt and effective treatment.
The Rising Threat of Lyme Disease
Over the past three decades, Lyme disease has become a significant public health concern in the United States, particularly in the Northeast. The disease is transmitted to humans through the bite of ticks carrying the bacterium Borrelia burgdorferi,which are most active from late spring through early fall. If left untreated, Lyme disease can lead to debilitating joint, heart, and nervous system problems.
Challenges with Current Diagnostic Methods
Diagnosing Lyme disease can be notoriously difficult. The hallmark symptom, a bull’s-eye-like rash, appears in only about 25% of infected individuals. Moreover, skin lesions can mimic other conditions, complicating clinical assessments. Existing antibody tests frequently yield false negatives during the initial stages of infection, delaying crucial treatment. “Antibody levels may remain elevated even after successful treatment,” one researcher noted, highlighting the difficulty in distinguishing between active infection and past exposure.
A New Approach to lyme Disease Detection
To overcome these diagnostic hurdles, a team at Dartmouth Hitchcock Medical Center, led by Guohong (Grace) Huang, Ph.D., has pioneered a new method for detecting Borrelia burgdorferi. This innovative approach utilizes droplet digital PCR (ddPCR), a technology that allows for precise and highly sensitive measurements.The team created three distinct ddPCR tests: one to identify all Borrelia species, another targeting those responsible for Lyme disease, and a third specific to Borrelia burgdorferi, the primary cause of Lyme disease in the U.S.
The development of this test stemmed from a challenging case involving a 73-year-old woman whose symptoms – progressively worsening skin hardening, inflammation, and joint immobility – were initially misdiagnosed as morphea. After immunosuppressant medications failed to provide relief, a member of her care team, Shaofeng Yan, M.D., Ph.D., requested Huang’s department develop a more definitive test.
Promising Results and Future Directions
Initial testing on a limited number of skin samples demonstrated the new assays’ excellent accuracy, capable of detecting as few as five to ten bacterial cells.The test for Borrelia burgdorferi achieved an estimated sensitivity of 90.9% in formalin fixed, paraffin embedded samples, offering a significant improvement over existing methods. Researchers anticipate even higher sensitivity levels when utilizing fresh or frozen tissues.
“Using the ddPCR assay, we successfully detected B. burgdorferi DNA in this patient’s skin biopsy,” Huang stated. “This finding was further confirmed by DNA sequencing, supporting the diagnosis of chronic Lyme disease.”
The team plans to expand testing to a larger cohort of patients and refine the assay to further enhance its sensitivity. This work, conducted in the Laboratory for Clinical Genomics and Advanced Technology (CGAT) at Dartmouth Hitchcock Medical Center, will be presented during a poster session at the Association for Molecular pathology (AMP) 2025 Annual Meeting & Expo in Boston on November 14 at 9:15am Eastern time (poster number TT088). Huang will be available to discuss the findings with reporters.
Early diagnosis is paramount in mitigating the risk of long-term complications from Lyme disease. With continued development, this new test promises to deliver prompt treatment to more patients, ultimately reducing the burden of this challenging illness.
