Genes could be key to diagnosing Lyme disease, scientists say

Scientists are now closer than ever before to creating a diagnostic test for Lyme disease.

The Global Lyme Alliance's Dr. Timothy Sellati called this "really big news."  

"It's a really transformative discovery," Sellati said. "It's really important because it is a very difficult disease to diagnose."

What Is Lyme Disease?

Lyme disease is a bacterial infection transmitted through the bite of a tick. But the symptoms can present like those of other diseases, including COVID, influenza, multiple sclerosis, and chronic fatigue syndrome. 

A misdiagnosis can leave an infection to grow for years, which, Sellati said, causes "more and more damage until effective treatment is provided to the patient."

Scientists "don't really understand" the disease, according to Dr. Avi Ma'ayan of the Icahn School of Medicine at Mount Sinai.

Diagnosing Lyme Disease

It's traditionally been hard for doctors to determine whether a person has lingering bacteria in their system, has damage that was caused when they were infected, or has an activated immune system "and they are just not returning back to their normal state," Ma'ayan said.

Thanks to Ma'ayan and his colleagues' work, the molecular mechanisms are becoming clearer, and the disease may finally be getting less confusing. They've determined that a person's gene expression — the way a person's genes show up in the blood — may be able to diagnose long-term Lyme disease.

"We could detect that the genes that are known to be associated with an immune response are upregulated," Ma'ayan said. "That means that they are highly expressed."

"They have identified a set of genes that allow them to diagnose post-treatment Lyme disease syndrome or chronic Lyme disease patients," added Sellati of the Global Lyme Alliance.

Related:  Potential Lyme disease vaccine test begins

The real-world result is that a diagnostic test for Lyme disease may be in sight. It wouldn't be 100% accurate but it would be close.

"It will be high probability that you have it," Ma'ayan said. "It will be in the 90th percentile."

When Will a Lyme Disease Test Be Available?

Ma'ayan said a test could be on the market in one to two years.

"It's pretty exciting for me because most of the research that we do is very basic, so we don't see a direct link to affecting patient lives right away," Ma'ayan said. "And this is one of those rare cases where we do see a direct link."