Amplicon sequencing technology for the detection of Lyme disease and other infectious diseases


Researchers at TGen and Northern Arizona University have developed technology to increase the speed and accuracy of diagnosing and assessing Lyme Disease and other infectious diseases.  This amplicon sequencing technology for Lyme Disease and other infectious diseases can be used commercially in a rapid and accurate fashion:

•       as a diagnostic tool;

•       to assess the severity of the disease;

•       to estimate the subject’s prognosis;

•       to monitor the course of disease progression, stability, or resolution;

•       to detect relapse; and

•       to select medication and/or adjust a treatment course.


Ixode tick bites can cause Lyme Disease by the transmission of Borrelia burgdorferi, and other infections through the transmission of pathogens such as Anaplasma phagocytophilum and species of genera Ehrlichia, Bartonella and Babesia.  Traditional clinical diagnosis of Lyme Disease in a subject focuses on measuring antibodies in the host and not on detecting the pathogen itself, which can result in a diagnosis taking up to several weeks to complete.  Factors complicating detection and management of Lyme Disease in clinical medicine include: co-infection from multiple pathogens; false positives from detection of non-Lyme causing Borrelia species; infections with levels of bacteremia below the sensitivity limit of the test method; and presentation of symptoms long after potential exposure to infected ticks.   


To address these current complications in detection and management of Lyme Disease and other infectious diseases (such as tick-borne relapsing fever [TBRF]), researchers at TGen and NAU developed amplicon sequencing technology using a multiplexed assay to target:

•       multiple portions of the Borrelia burgdorferi genome;

•       multiple non-Lyme causing Borrelia species;

•       multiple other tick-borne pathogens; and

•       multiple differential diagnosis targets.


Through the detection power of polymerase chain reaction (PCR) amplification reactions and the information power of DNA sequencing, the technology has an increased ability differentiate between Lyme specific pathogens and other pathogens in the diagnosis by targeting the presence of organism DNA and/or RNA itself (instead of testing the target's host immune response); an increased ability to reduce testing false negatives through specificity; and an increased sensitivity in testing to low level bacteremia.  Further, researchers at TGen and NAU developed customized software to perform automated analysis of the data produced from the multiplexed amplicon sequencing technology.


Link to Published PCT Patent Application WO 2017/139715 A1

Patent Information:
For Information, Contact:
Katie Bray
Intellectual Property Counsel
The Translational Genomics Research Institute
Elizabeth Driebe
Paul Keim
David Engelthaler
Jolene Bowers
Nathan Nieto