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Australian Firm Genetic Signatures to Enter US Market With Syndromic Kit for GI Conditions

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NEW YORK – On the heels of a $25 million financing round, Australian diagnostic instrument and test developer Genetic Signatures is expanding its European and US marketing and sales operations and preparing an application to the US Food and Drug Administration for clearance of a syndromic enteric protozoa kit.

According to CEO John Melki, the planned expansion follows Genetic Signatures' enteric protozoa kit's disruption of the Australian market for ova and parasite (O&P) testing, which involves the microscopic evaluation of a stool sample used to look for parasites that may infect the lower digestive tract.

The firm's syndromic enteric panels are designed to diagnose people who present with symptoms of gastroenteritis, including diarrhea and vomiting, "symptoms that could be caused by many things," Melki said in an interview.

The firm's core technology relies on a nucleic acid amplification method called 3base, which uses standard bisulfite treatment that converts cytosines to thymines. Use of bisulfite-converted DNA reduces complexity between disease subtypes or strains when the firm is developing its real-time PCR assays, Melki said. The method also enables development of assays that can detect many variants of a given pathogen and allows the firm to target genomic regions undetectable by other tests, he said.

In a clinical evaluation using 3base as part of a detection kit at St. Vincent's Hospital in Sydney, Genetic Signatures' enteric protozoa assay had overall sensitivity levels of between 92 percent and 100 percent and overall specificity levels of 100 percent. By comparison, during the same study, the specificity of standard O&P testing using microscopy was also 100 percent, but its sensitivity ranged between 50 and 77 percent, the firm said.

In a study published last year in the Journal of Clinical Microbiology, St. Vincent's Hospital, Sydney, clinicians recommended the EasyScreen assay "as the molecular method of choice as well as the need for standardization of detection assays across all nations for screening for D. fragilis," a troubling trichomonad parasite that resides in the human bowel.

Melki said Genetic Signatures is marketing a number of molecular tests under the Easyscreen brand to hospitals and reference laboratories performing medium- and high-volume testing in the Asia-Pacific region, Europe, the Middle East, and Africa where the tests have received regulatory clearances. Further, in the US, the company is marketing analyte specific reagents to medium- and large-volume labs as part of a strategy to show its products to customers developing laboratory-developed tests. So far, more than 100 analytes have been made available to develop LDTs as part of the US strategy.

To market its syndromic enteric panel and other tests, the firm is building a US-based sales organization with a direct sales staff and distributors. It has hired direct sales staff in the United Kingdom, Germany, and the Netherlands.

Genetic Signatures anticipates marketing its enteric assay in the US in 2021, or sooner, on the back of an application it is preparing and expects to submit to the FDA in the middle of this year. "When we visited with labs in the US, many of them said that a molecular version of O&P would help them," Melki said. "We had already identified O&P, or microscopy, as being a laborious, insensitive method that is sometimes no more useful than flipping a coin in determining a clinical outcome," he said.

Susan Whittier, director of clinical microbiology service at New York Presbyterian Columbia Medical Center and New York Presbyterian Lawrence Hospital, said in an interview that "routine O&P testing is the bane of our existence."

Last year Whittier and her colleagues published a study that evaluated the impact of implementing the BioMérieux BioFire FilmArray Gastrointestinal Panel on healthcare utilization and outcomes. They performed a retrospective comparative analysis of 9,402 patients who underwent testing with the FilmArray GI panel from March 2015 through May 2017 and 5,986 patients who underwent conventional stool testing from Dec. 2012 through Feb. 2015.

Whittier, who is not affiliated with Genetic Signatures, said she believes there is a market for its tests in the US for numerous reasons.

"Due to the low sensitivity of [routine O&P testing], several stool specimens must be submitted before a parasitic infection can be ruled out," she said. "There are many factors that contribute to this poor performance [and sensitivity, including] low parasite burden, intermittent shedding, and reliance on manual methodologies."

O&P exams are labor intensive and require skilled technologists with very specific training at a time when US laboratories are seeing a shortage of medical technologists. "Even worse, it is almost impossible to find someone trained in parasitology," Whittier said. When the parasitologist working in Whittier's lab retired a few years ago, the group implemented the FilmArray panel and discontinued routine O&P exams. The clinicians there saw that the FilmArray identified gastrointestinal conditions missed through routine O&P; the percentage of positive test results surged from 1 percent to 25 percent, Whittier said.

Broad portfolio

Though Genetic Signatures' protozoa assay is expected to be its first product on the US market, the firm anticipates launching three kits in quick succession here within the next three years. For competitive reasons, the firm has not disclosed medical conditions associated with two kits expected to launch after the protozoa assay, but it has provided details of specific tests launched in other regions as well as tests in development.

Genetic Signatures is currently marketing three kits — for the detection of enteric pathogens, respiratory pathogens, and extended spectrum beta-lactamase (ESBL) and carbapenemase producing organisms (CPO) — in the Asia-Pacific region and in Europe, the Middle East, and Africa (EMEA). It has developed tests for sexually transmitted infections and alphavirus/flavivirus infections for which it anticipates receiving Asia-Pacific and EMEA approvals early this year. Further, the company is developing separate syndromic kits for meningitis and atypical respiratory conditions, though it didn't provide a timeline for expected launch.

In an investor presentation, the firm said it estimates the global market size for molecular enteric tests to be A$573 million ($395 million) and respiratory tests to be A$627 million. Melki said that if the firm can achieve a 10 percent US market share for the enteric protozoan kit, it will "more than double" its fiscal year 2019 revenues of A$4.9 million, which was up 71 percent year over year. The firm anticipates penetrating between 10 percent and 15 percent of the US market for the kit within three years.

Syndromic panel competition

The company may face a challenging reimbursement environment for the US syndromic molecular testing market. In a note last month, JP Morgan analyst Tycho Peterson wrote that a recent survey of lab managers by the investment bank "points to a deteriorating reimbursement outlook for syndromic panel testing," including respiratory and gastrointestinal panels, "within an increasingly competitive molecular diagnostics market." 

Genetic Signatures will also face strong competition from companies such as BioMérieux, Luminex, and GenMark Diagnostics. Melki said he agrees that these are companies for Genetic Signatures to watch but added that his firm's 3base technology provides a clear differentiator, enabling high-throughput testing. "We can detect 14 respiratory targets or 20 enteric targets and enable testing of 200 patients at a time on our latest equipment," he said. Using its equipment and assays, laboratories can run tests on 1,200 samples a day, he added.

Whittier said some of the pathogens included in the current enteric panel "may not be very prevalent in the US, [but detecting those pathogens] could be useful for travelers returning from areas where protozoan infections are more common."

In consultation with its clinical advisors, Genetic Signatures has added a few undisclosed additional targets to the enteric panel specifically for US patients, Melki said.