Joining forces to combat diseases with syndromic qPCR testing

Infectious disease specialist, Natalia Laufer, is very conscious that tropical diseases transmitted by mosquitos, such as dengue, zika and chikungunya, are spreading globally. In early 2024, much of Latin America was in the grip of a massive outbreak of dengue fever. “It was the biggest outbreak in my lifetime,” says Laufer, a clinical researcher at the University of Buenos Aires in Argentina.

It wasn’t an isolated incident. “Temperatures are rising around the world due to climate change and that is causing virus-transmitting mosquitos to spread to new areas,” explains Laufer. “The reality is that we’re facing a lot of outbreaks of tropical diseases^1,2.”

But it can be difficult to distinguish between tropical diseases as they tend to have similar symptoms such as fever, headaches and muscle pain. Until now, several targeted assays have been used to determine the cause of symptoms, but syndromic qPCR testing identifies symptom-causing pathogens in one go. This also allows the differentiation of multiple co-infections that may be life-threatening, making clear the best option for early and targeted treatment.

During the dengue outbreak earlier this year in Buenos Aires, “we were overwhelmed with consultations, and we lacked adequate treatment facilities, reagents, and diagnostic equipment. We had to rearrange our activities because of insufficient personnel,” says Laufer.

“I think syndromic PCR testing will be extremely useful for reducing the burden on healthcare professionals and the health system in general,” she adds.

Overcoming tropical diseases

Laufer was one of 17 researchers who were awarded research grants in the Open Innovation Program (OIP). The competition on 15 projects was intense, with 281 applications submitted by researchers in 47 countries.

The OIP is a joint initiative between Seegene, a South Korean molecular diagnostic company specializing in syndromic qPCR solutions, and Springer Nature, launched in September 2023. The OIP aims to accelerate the development of innovative syndromic PCR assays with the involvement of scientists and experts worldwide.

In the first phase of the OIP, clinical studies will be performed globally to develop diverse molecular diagnostic assays for infectious diseases, vector-borne diseases and drug-resistant pathogens. The initiative is expected to make syndromic qPCR tests more affordable and accessible to patients, enabling monitoring of their well-being and health in everyday life.

Under this programme, Laufer’s team is collaborating to develop a syndromic qPCR test for tropical diseases. “After completing this project, it will be possible to use a single test to identify up to six of the most frequent causes of tropical diseases circulating in Latin America” she says.

Tracking urinary tract infections (UTIs)

Another researcher who jumped at the chance to work with Seegene was Mohamed Abdelmalek Mahmoud, a clinical pathologist at Mediclinic Al Noor Hospital in Abu Dhabi, United Arab Emirates. He specializes in UTIs, which account for around 40% of all hospital-acquired infections.

“The incidence of urinary-tract infections is very high globally,” says Mahmoud. “In our hospital alone, we analyse roughly 50,000 urine samples per year for UTIs, and culture about 40,000 samples.”

Furthermore, many of the 25 or so bacteria that cause UTIs are becoming harder to treat as they become more resistant to antibiotics.

“All these factors emphasize the importance of finding new solutions to realize early diagnosis and early treatment of UTIs,” notes Mahmoud.

In his Seegene-funded project, Mahmoud and his team are exploring the use of syndromic PCR testing to replace conventional methods for detecting UTIs.

“Syndromic testing using the multiplex PCR offers enhanced sensitivity and specificity. With PCR technology, we can detect organisms at a very low concentrations, sometimes at levels too low for conventional methods,” says Mahmoud. “By detecting multiple pathogens simultaneously, we hope to streamline the diagnosis process, improve its accuracy, and facilitate targeted antibiotic therapy.”

Mahmoud sees many advantages of adopting syndromic qPCR testing. “This technology promises quicker initiation of treatment, shorter hospital stays, and better outcomes for patients,” he says. “Additionally, its ability to pinpoint specific pathogens will help in selecting appropriate antibiotics and minimizing treatment failure. These advantages will improve both patient care and the operational efficiency of clinical labs.”

Rising case numbers

Ulrich Eigner, head of studies on infection diagnostics at MVZ Labor Dr. Limbach, in Heidelberg, Germany, specializes in sexually transmitted infections (STIs) and non-tuberculous mycobacteria (NTM). He is also enthusiastic about the benefits of syndromic qPCR testing.

“I’ve been a big fan of multiplex PCR for many years now. It provides clinically valuable information, assisting diagnostics and treatment, about the pathogens responsible for diseases,” says Eigner.

The importance of diagnosing STIs is increasing because of rising cases in Europe.

“There’s a surge in cases of syphilis, gonorrhoea and chlamydia in Europe, which poses a major burden for patients and can lead to very serious problems such as chronic pelvic pain, infertility and ectopic pregnancy,” says Eigner. “They are often asymptomatic but still transmissible. There’s a pressing need for heightened awareness of transmission, enhanced prevention, and easier access to testing and treatment.”

“That’s where multiplex PCR can really make a difference over conventional testing methods,” says Eigner: “PCR techniques show high sensitivity and specificity. They also have a short turnaround time and are less laborious.”

The prevalence of non-tuberculous mycobacteria, a group of pathogens that cause severe respiratory failure, is on the rise.

While STIs might not seem to have much in common with NTM, “the connection is that STIs and NTM both have to be precisely diagnosed in order to determine the appropriate therapy,” explains Eigner. "In both cases, you have to know the target pathogens for effective treatment," he adds.

Eigner, who has been awarded two OIP projects, will collaborate with Seegene to develop syndromic qPCR testing for STIs and NTM.

The next phase

These different projects, being conducted in different regions of the world and involving very different pathogens, provide a glimpse into the power of Seegene’s high multiplex qPCR system and its potential to provide syndromic testing of a wide range of pathogens, including viruses, bacteria and fungi.

“Syndromic testing based on multiplex PCR provides numerous benefits in the field of diagnostics,” says Mahmoud. “It eliminates the need to perform individual tests for each suspected pathogen. It will save money and reduce unnecessary antibiotic prescription and hospitalization. It will also lead to targeted therapies.”

The next phase of the OIP later this year will see Springer Nature seek applicants interested in introducing syndromic qPCR testing to their fields. Shifting from Seegene’s pre-designated projects, this year’s programme will allow scientists and experts to engage more actively in the ideation and development of syndromic qPCR tests.