By Tony Fong
NEW YORK (GenomeWeb News) – Looking to tap into what its chief executive said may be the biggest market for genetic testing in the world, DermTech International is progressing in developing a test that it claims is more accurate than any melanoma detection test currently available.
Last week, researchers from the La Jolla, Calif.-based company, along with external collaborators, published a proof-of-concept study in the British Journal of Dermatology, in which they said they were able to show that DermTech's Epidermal Genetic Information Retrieval, or EGIR, technology was able to detect instances of melanoma either in situ or invasive disease with 100 percent sensitivity and 88 percent specificity.
Based on the results, the company is now evaluating various PCR platforms which may potentially run the microarray-based test. DermTech plans on launching the test initially in Australia then in Europe sometime next year, followed by filing for clearance from the US Food and Drug Administration, CEO George Schwartz told GenomeWeb Daily News.
If successful, the test, called MelDTect, would represent the first commercially available product from DermTech, which was founded in the late 1990s as a dermatology contract research organization and originally called the California Skin Research Institute.
While operating as a CRO, the firm's founder, Lawrence Rheins, an immunologist who is now president of Histogen Aesthetics, and Vera Morhenn, a dermatologist, developed the EGIR technology.
The company initially applied the technology to the work it did as a CRO, but that began to change after Schwartz learned about EGIR and invested in DermTech to further develop it commercially, he said.
"It became apparent that we had a major opportunity before us to identify molecular diagnostics and a unique way of bringing genomic medicine to dermatologists," he said.
Schwartz, who was previously CEO of drug development consulting firm NDA Partners and a senior vice president at Drexel Burnham Lambert, eventually became DermTech's CEO in 2004.
For the past five years, the company has been further developing the technology, running a clinical trial, and discovering and identifying genetic biomarkers that can differentiate melanoma from benign pigmented lesions.
Although EGIR is more than a year away from making it to market, the British Journal of Dermatology study represents a milestone for DermTech, as it validates the technology's potential, the firm said.
In short, the EGIR technology uses custom adhesive tape to non-invasively collect cells from the surface of the skin. The cells' RNA is then isolated, amplified, and analyzed by gene expression profiling.
In the study, the authors wrote that for every one case of diagnosed melanoma, 30 benign pigmented lesions are biopsied by general practitioners, while dermatologists biopsy 12 benign pigmented lesions for every melanoma diagnosed.
"Taken together, health care professionals biopsy many pigmented lesions to detect a melanoma, and may also leave some melanomas undetected at their early stage," they wrote. In their study looking at 202 total lesion samples from 18 sites across the US, the researchers were able to achieve 100 percent sensitivity and 88 percent specificity.
"We are producing significantly enhanced patient outcomes because the patient knows we've never missed a melanoma, and at the same time the biopsy rate would be brought down from 29 out of 30 false positives to 12 out of 100," Schwartz said.
In addition, when a skin lesion is tested by current methods, only a very small section of the tissue that is sent to a pathology lab, about 3 percent, is actually biopsied. If the melanoma is not in the section being biopsied, it can be missed.
By comparison, using EGIR, a sample is, "in our minds, the equivalent of a full molecular pathology read of the entirety of the specimen," Schwartz said.
That capability can be crucial in detecting the disease. According to the authors of the study, a clinician's rate of success in determining whether a lesion is melanoma can vary widely, with sensitivity between 54 percent and 90 percent.
They added that the gold standard for melanoma diagnosis is histopathology, but this method has its limitations and discordant readings occur in about 10 percent to 35 percent of potential cases of melanoma.
In a statement from DermTech, Mitchell Kline, clinical assistant professor of dermatology at New York-Presbyterian Hospital/Weill Cornell Medical School, said that the EGIR technology "will allow us to non-invasively evaluate lesions which might not rise to the level of clinical suspicion that would prompt one to perform a biopsy, but which, nonetheless, might harbor melanoma. I believe that this genomic-based approach will allow dermatologists to more fully assess patients in advance of a biopsy and the test's very low false-positive rate should translate to a reduced number of required excisions."
The MelDTect test, which currently comprises a 17-gene panel, is not meant as a replacement for histopathology, Schwartz stressed, but rather would be used to help determine which patients need biopsies.
The test, he added, is for the detection of melanoma and not the diagnosis of it, which calls for staging of the disease. "At the moment, histopathology is the only tool out there to properly stage the disease," he said.
The target patient population for EGIR, for now, are patients who are at high risk for melanoma — those who have had melanoma in the past; those with close relatives who have had it; or those who have large atypical moles covering their body, a condition known as dysplastic nevi syndrome.
Schwartz estimated that market to be at about $1 billion annually.
"In terms of regulatory and reimbursement policies, that would seem to be the most important market to go after to begin with," Schwartz said.
The company is now in the process of choosing a proper PCR platform for the EGIR technology. That, along with a preliminary validation study of the technology on the platform, is anticipated to take about one year. Afterward, DermTech would proceed to a validation study in preparation of a submission to FDA.
The company is choosing Australia as its initial commercial launch site largely because that country has the highest rate of melanoma in the world. According to a recent report from the Australian Institute of Health, for every 100,000 Australian males there were 57.2 reported cases of melanoma in 2007. For every 100,000 Australian women, there were 38.2 reported cases of melanoma.
Aside from melanoma, the EGIR technology may have applications for other cancers, including systemic forms of cancer, such as prostate cancer, Schwartz said. DermTech is currently doing research with the technology on the disease.
According to DermTech's website, other potential commercial applications of the technology are theranostics, pharmaceutical R&D, and cosmeceutical development.
The company currently has no products on the market and all funding has come from investments from individuals. Schwartz declined to say how much DermTech has raised since its inception. However, he said that it is getting ready to launch a financing round targeting $20 million to further commercialization of the EGIR technology.
Along with individual investors, the round will target venture capital firms, he said.