Molecular diagnostic advances are being driven by the need for automation and easy-to-handle techniques, said Mark Bunger, research director, biosciences at Lux Research. Longer-term trends also driving this market include the influx of smaller companies developing diagnostic tools and a greater focus on end markets due to direct-to-consumer marketing.
The biggest hurdles, according to Bunger who spoke at “Molecular Diagnostics World” held last month in San Francisco, reside in validation. “Molecular tests based on the presence or absence of a protein or allele are the low-hanging fruit,” he said. “More complex conditions that are subtle or impossible to discern from molecular data alone have to be correlated with clinical data. These are poorly validated now, which is holding things back.” He added that pharmaceutical companies are focusing on companion diagnostics, “a new area that will help them refine and optimize drug sales.”
Bunger believes diagnostics will be pushed to the forefront with more emphasis on early and better testing, especially now with Dr. Francis Collins’ recent appointment as NIH director. “I think the field is poised for a great future,” noted Bunger.
He’s not alone in that assessment: the global market is estimated to reach $6.35 billion by 2015 according to Global Industry Analysts.
The push to commercialize simple and cost-effective molecular tests for second-tier clinical labs is the incentive behind BioHelix’ IsoAmp® assays. “Our mission is to improve the quality of healthcare through development of simple molecular diagnostic tests for the near-patient setting, where rapid solutions are necessary for prompt medical intervention,” stated Huimin Kong, Ph.D., CSO. By combining its isothermal helicase-dependent amplification technology with an instrument-free detection device, these assays fulfill the company’s objective.
“Currently, only top-tier clinical labs (approximately 600 in the U.S.) perform molecular diagnostic tests, while there are about 5,000 to 6,000 second-tier labs that don’t due to high costs and complexity,” Dr. Kong explained. The IsoAmp Molecular Analyzer platform is targeted at these labs. With this product, a helicase enzyme unwinds DNA into single strands, eliminating the need for a thermocycler and providing a method for assay development, Dr. Kong said.
Amplicon detection is achieved via the BESt™ (biohelix express strip) cassette. This is an enclosed, disposable cassette that is cross-contamination proof, and available to detect a single amplicon (type I) or two amplicons (type II), reported Dr. Kong. Results are available in about ten minutes versus having a test done at a reference lab, which can take a few days, he added. “There is a need for conducting molecular diagnostics in near-patient settings or ultimately at the point of care.”
The company’s lead IsoAmp assay is for MRSA and is in beta testing. Additional assays in development include: Staphylococcus aureus, Clostridium difficile, Chlamydia trachomatis, Neisseia gohorrhoeae, herpes simplex virus, and HIV (funded by NIH). The assay can also be used to detect genetic mutations such as SNPs that cause Factor V Leiden thrombophilia, Dr. Kong noted.