NEW YORK (GenomeWeb) – French molecular diagnostics firm Genomic Vision plans to release several new tests based on its molecular combing technology over the next two years, both through an existing licensing agreement with Quest Diagnostics in the US, and through sales of testing kits to European hospitals and clinical centers.
The company currently offers a single test for a disease called facioscapulohumeral muscular dystrophy, but expects to launch tests for BRCA1/2 mutations, Lynch syndrome mutations, HPV-associated cervical cancer, and a test for alterations associated with spinal muscular atrophy over the next several years.
Genomic Vision's technology, called molecular combing, involves a squeegee-like effect, wherein individual molecules of DNA that are extracted from clinical samples and suspended in a buffer solution are then attached to a surface and combed straight into parallel strands.
Once arrayed, the molecules are exposed to fluorescent probes in a process the company calls "genomic Morse code." By examining the distance between probes, the company can determine the presence of large structural variations — amplifications, repeats, inversions, deletions, or translocations — that are associated with a particular disease or disorder.
As such, the approach occupies a sweet spot in terms of resolution, in between technologies that measure the largest genomic alterations like chromosomal aneuploidies, and those, like nucleic acid amplification or next-generation sequencing technologies, which best target the smallest. The method involves no bias due to sequence content and specifically allows the detection of balanced rearrangements often missed by other methods, according to the firm.
In a continuation of Genomic Vision's agreement initially made in 2011 and extended through 2018 this January, Quest retains exclusive rights to develop, validate, and market a number of tests based on molecular combing in the US, India, and Mexico. This includes not only the existing commercial FMD assay, but also upcoming tests for BRCA1/2, Lynch syndrome, and spinal muscular atrophy.
Genomic Vision, meanwhile, is free to market all of these four tests in Europe, the Middle East, and Africa.
Additionally, Aaron Bensimon, the company's president and CEO, told GenomeWeb that after its IPO in France last year, the company has adjusted its agreement with Quest to allow it to develop other novel diagnostics and potentially commercialize them through other service providers or medical centers in the US.
"Our strategy now in the coming months will be to also address the US market directly," Bensimon said.
In Europe, the company's current strategy of producing kits and selling its technology directly to hospitals has a limited lifespan, likely only another two years, he said. At that point, Genomic Vision plans to pursue an agreement with a larger IVD company to scale up and globalize its business.
At this point, Bensimon told GenomeWeb, the company's BRCA1/2 test is essentially complete, and the firm has transferred all the relevant material to Quest to launch the assay in the US as an LDT sometime in 2016.
Also later next year, Genomic Vision expects to launch its assay for Lynch syndrome, he said, followed by two additional tests for commercial launch in subsequent years: one for spinal muscular atrophy, which also falls under the firm's agreement with Quest, and another for HPV-associated cervical cancer, which does not.
"The way we are choosing these tests is really by interacting with key opinion leaders," Bensimon explained. "We are developing a pipeline according to unmet medical need and the demand of doctors."
In cervical cancer, he added, the company believes it could have significant, practice-changing effect on clinical practice.
The test the firm is developing, which it hopes to launch in 2017, is designed to identify the integration of genetic material from HPV into the human genome, an event which is associated with the development of cervical cancer.
"What we've observed is that in 100 percent of cervical cancers, HPV is integrated into the human genome, so the notion of looking at that integration … that's what we are doing," Bensimon said.
"There are about 20 million women that every year are infected by HPV," Bensimon said. "Ninety-five percent get rid of the infection by natural means, but a small percentage has what is called a persistent infection."
In current clinical practice, if the cytological assessment of a pap smear is clearly suggestive of cellular changes, a woman is sent directly to colposcopy, a magnified exam that often involves an associated biopsy of the cervix.
"That's not the problem," Bensimon said. "The problem starts when we have an ambiguous result from a pap smear. In general, in that case, [clinicians] prescribe an HPV test, and current HPV tests from companies like Qiagen and Roche, they give an answer only as to the presence or absence of HPV, and the oncogenic type."
If HPV is absent, women can wait safely for another annual pap smear. If it is present, they are sent for colposcopy.
The issue, Bensimon said, is that more than 50 percent of these HPV-positive cases actually don't need a colposcopy, and Genomic Vision hopes to help identify the subset of those that truly do by testing not just for the presence of HPV DNA, but for its integration into a woman's own genome.
The company's molecular combing is particularly well fit to this task, Bensimon said. "We have the DNA [combed out], and we can hybridize with the HPV. So if it's there [in the human DNA molecule], we see it."
So far, the approach has worked well in preliminary results, he said. The company shared some early data in August 2014 at the HPV 2014 conference in Seattle, showing that molecular combing allowed the direct and high-resolution visualization of the integration of the highest-risk viral DNA into the genome of an infected human cell.