A Novel Diagnostic Approach for Dual Detection

A new DNA sequence test for Borrelia miyamotoi and Borrelia burgdorferi offers hope for improved diagnosis. Krause et al. reported that B. miyamotoi can cause illness and is treatable. Yet, Krause et al also reported that traditional tests for Borrelia burgdorferi (Bb) cannot be used to diagnose B. miyamotoi.

This creates a diagnostic gap. Patients infected with B. miyamotoi may test negative on standard Lyme disease testing, leading to missed diagnosis and delayed treatment. A test capable of detecting both organisms simultaneously addresses this critical limitation.

How the DNA Sequencing Test Works

Dr. Lee, an investigator at the Department of Pathology, Milford Hospital, Connecticut described a novel DNA Sequencing test that can detect both Bb and B. miyamotoi in the blood of patients in the Southern New England US. B. miyamotoi has also been described in California and Japan.

This DNA sequence test performed well against controls in initial studies. The test uses DNA sequencing technology to identify genetic material from both Borrelia burgdorferi and B. miyamotoi directly in patient blood samples.

Unlike antibody-based testing, which relies on the immune response, DNA sequencing detects the organism itself. This direct detection method may be particularly valuable in early infection before antibodies develop, or in immunocompromised patients who may not mount robust antibody responses.

Why Traditional Lyme Tests Cannot Detect B. miyamotoi

Traditional tests for Borrelia burgdorferi are not designed to detect B. miyamotoi. The organisms are genetically different, requiring separate testing methods.

Standard Lyme disease testing uses two-tier serology: ELISA followed by Western blot. These tests detect antibodies against specific proteins found in Borrelia burgdorferi. However, B. miyamotoi expresses different surface proteins, so antibodies against B. burgdorferi do not cross-react with B. miyamotoi.

This means a patient could have active B. miyamotoi infection, undergo standard Lyme disease testing, receive negative results, and be told they don’t have a tick-borne infection—when in fact they do.

Why New Testing Matters

Currently, there is no FDA-approved test for B. miyamotoi, and clinicians face significant challenges in diagnosing this emerging infection.

A DNA sequence test that can detect both Lyme disease and B. miyamotoi could streamline diagnosis for patients with tick-borne infections. Instead of ordering separate tests for each organism—assuming clinicians even consider B. miyamotoi—a single test could identify both.

The ability to detect off-season spirochetemia with low bacterial density is particularly valuable. Many patients present outside of peak tick season or when bacterial loads are difficult to detect with standard methods. DNA sequencing may capture these cases that antibody testing or blood smear examination would miss.

Clinical Applications and Limitations

This new DNA sequence test for Borrelia miyamotoi and Bb performed well against controls. However, further studies are needed to understand the value of these tests in actual clinical practice.

Key questions remain: What is the sensitivity and specificity in real-world patient populations? How does the test perform in early versus late infection? Can it detect low-level chronic infections? What is the cost and turnaround time? Will it be covered by insurance?

Until these questions are answered through larger clinical trials, the practical utility of DNA sequencing for routine diagnosis remains uncertain. However, the approach represents an important advancement in tick-borne disease diagnostics.

Geographic Distribution and Expanding Recognition

The DNA sequence test was studied in Southern New England, but B. miyamotoi has been identified in multiple regions. The organism has been found in California, throughout the Northeast and upper Midwest, and internationally in Japan and Europe.

As recognition of B. miyamotoi increases and testing becomes more available, we’re likely to discover that this infection is more widespread than initially appreciated. A diagnostic test that can identify both B. burgdorferi and B. miyamotoi will be essential for accurate surveillance and patient care.

Frequently Asked Questions

What is the new DNA sequence test?
It is a novel DNA sequencing test that can detect both Borrelia burgdorferi (Lyme disease) and Borrelia miyamotoi in patient blood samples. Unlike antibody tests, it detects the organisms directly through DNA sequencing.

Why can’t traditional Lyme tests detect B. miyamotoi?
Traditional tests for Borrelia burgdorferi use antibody-based methods (ELISA and Western blot) designed to detect specific proteins from B. burgdorferi. B. miyamotoi expresses different proteins, so antibodies don’t cross-react. The organisms are genetically different, requiring separate testing methods.

Where has this test been studied?
The DNA sequence test was studied in Southern New England, US. B. miyamotoi has also been found in California, the upper Midwest, Japan, and Europe. As testing becomes more available, the geographic range may expand.

What advantage does DNA sequencing offer?
DNA sequencing can detect off-season spirochetemia with low bacterial density, which is difficult with standard testing methods. It directly detects the organism rather than relying on antibody response, potentially improving sensitivity in early infection or immunocompromised patients.

Is this test FDA-approved and available?
As of the original report, this was a research test. There is still no FDA-approved test for B. miyamotoi. Further clinical studies are needed to validate the test’s performance before it can be widely adopted in clinical practice.

Clinical Takeaway

The development of a DNA sequence test capable of detecting both Borrelia burgdorferi and Borrelia miyamotoi addresses a critical diagnostic gap in tick-borne disease management. Traditional Lyme disease testing uses two-tier serology—ELISA followed by Western blot—designed to detect antibodies against specific proteins found in B. burgdorferi. However, B. miyamotoi expresses different surface proteins, meaning antibodies against B. burgdorferi do not cross-react. This creates a dangerous scenario: patients with active B. miyamotoi infection undergo standard Lyme testing, receive negative results, and are told they don’t have tick-borne infection when in fact they do. The novel DNA sequencing approach developed by Dr. Lee and colleagues at Milford Hospital overcomes this limitation by directly detecting genetic material from both organisms in patient blood samples. Unlike antibody-based methods that rely on immune response, DNA sequencing identifies the pathogens themselves. This direct detection may prove particularly valuable in several clinical scenarios: early infection before antibodies develop, immunocompromised patients who may not mount robust antibody responses, off-season presentations when bacterial loads may be low, and chronic infections with fluctuating spirochetemia. Initial studies demonstrated good performance against controls. The test successfully detected both B. burgdorferi and B. miyamotoi in Southern New England patient samples, including cases with low bacterial density that might have been missed by traditional methods. However, significant questions remain before this approach can be adopted for routine clinical use. What is the sensitivity and specificity in real-world patient populations? How does performance vary in early versus late infection? Can it detect low-level chronic infections? What are the cost and turnaround time? Will insurance cover it? These questions require larger clinical trials to answer. The geographic importance cannot be overstated. B. miyamotoi has been identified in California, throughout the Northeast and upper Midwest, and internationally in Japan and Europe. As awareness increases and testing becomes more available, we’re likely to discover this infection is more widespread than currently appreciated. A dual-detection test will be essential for accurate surveillance and appropriate patient care. Currently, there is no FDA-approved test for B. miyamotoi. This regulatory gap means clinicians have limited options for diagnosis beyond clinical suspicion. The DNA sequencing approach represents important progress, but until validation studies are complete and FDA approval is obtained, diagnostic uncertainty will persist for patients with suspected B. miyamotoi infection.