NEW YORK (GenomeWeb) – Joining a newly populated field of miniature, portable, or otherwise easily accessible PCR technologies, Philadelphia-based Biomeme has developed a fully-functional real-time PCR thermocycler with an iPhone readout, which it eventually hopes to be able to manufacture and sell for under $200 with each test costing less than $10.
Early-access military and infectious disease researchers are currently using the handheld instrument, but longer term Biomeme also hopes to advance its technology as a tool for DIY enthusiasts as well as for consumer testing of SNPs, beginning with low-risk, health-associated genetic loci such as MTHFR.
Marc DeJohn, Biomeme's co-founder and engineering lead, told GenomeWeb that the company also sees its technology potentially becoming a tool for simplified, rapid, point-of-care molecular diagnostics if it can overcome regulatory hurdles in the US or potentially enter other international markets.
Biomeme joins several other companies looking to advance miniaturized or otherwise simplified PCR instruments. For example, Cambridge, Mass.-based Amplyus is advancing a similar platform called miniPCR as an educational and research tool with initial kits for family tree inquiry, pathogen detection, and forensic experiments.
Another do-it-yourself PCR company, OpenPCR, has had a DIY-assembly instrument on the market since 2011, and one of that company's founders subsequently formed Chai Biotechnologies, which launched a crowd-funding campaign last year to help commercialize its planned $1,500 real-time PCR instrument.
Finally, New Zealand-based startup Ubiquitome, a spinout of the University of Otago, has also launched a small, battery-operated qPCR platform that can run four standard qPCR assays in about one hour with a six-hour battery life.
"It seems to be so early in this area that I don't really consider the competition fierce," DeJohn said. "We are all struggling with so many hurdles, and none of us have penetrated the markets we want to be in far enough to actually be in competition with each other."
We are all struggling with so many hurdles, and none of us have penetrated the markets we want to be in far enough to actually be in competition with each other.
Biomeme's product combines a two-minute, syringe-based disposable sample prep kit with a mini thermocycler that plugs directly into an iPhone to become a glossy-screened hand-held PCR instrument.
The machine includes a fully functional heating and cooling system, as well as optics to illuminate the PCR reaction for a real-time readout. It is also battery powered for up to 10 tests in one go, DeJohn said.
"You have the temperature controls that you would on any thermocycler, and there are optics inside as well, combined with the phone, which is your fluorometer. It's basically a two-color, three-well device," DeJohn said.
To allow this type of simplification and miniaturization of the PCR architecture, which traditionally requires systems many times larger and more expensive, DeJohn said Biomeme has spent significant effort developing IP around simpler manufacturability and more efficient thermocycling and fluorescence detection.
"We did a lot of tweaking for efficiency to be able to run on battery power," DeJohn said. "That's important for it to be field-deployable for customers, whether military types or researchers."
"We also did a lot of engineering and research around minimizing the needs for heat and cooling," he said. "We got away from Peltier-driven devices that many larger thermocycling devices use and went with a simple electrothermal method for heating and a fan-based system for cooling. That's the basis of the technology from the functional point of view."
According to DeJohn, the current version of Biomeme's instrument requires docking an iPhone so that the phone's sensor can be utilized to detect the PCR products, but the company is also working on a version with an integrated sensor that could connect remotely to the Biomeme iPhone app.
On the sample prep side, Biomeme has also created a fully disposable, extremely simplified system that relies on a filter-tipped syringe. On its website, CEO and co-founder Max Perelman has supplied a video of his young daughter completing the process confidently in less than five minutes.
As BioMeme has settled into the early stages of its business, the first users of its device are the military, as well as several groups of scientific researchers, DeJohn said.
One research group led by the Wildlife Conservation Society's Tracie Seimon is employing the machine in a study of fungal infections in amphibians in South America. Another team at Drexel University, led by physician Sandra Wolf, is testing out the instrument in the women's health setting with an assay Biomeme has developed for gonorrhea, trichomoniasis, and chlamydia.
Biomeme's next goal in terms of marketing is to seek out adoption of the system by the biohacker, or DIY genomics space. The company has been interacting with these users initially through targeted research events, which DeJohn said will continue throughout this year.
Unlike traditional laboratory PCR systems, Biomeme's use of the iPhone interface has meant that its instrument has an inherent advantage in usability. This opens up markets not only beyond the traditional laboratory customer, but also potentially beyond science hobbyists and biohackers to include the lay public — the consumers of so-called "direct-to-consumer" genetic testing.
According to DeJohn, although efforts to develop user-friendly, simple genetic testing devices are on the rise, none have gotten to where Biomeme ultimately wants to go, which is to the home.
The company is aware that advancing health tests or genetics technologies for self- or home-use has the potential to push up against regulatory issues, at least in the US, he added.
DeJohn said that Biomeme, at least initially, plans to limit its offerings in the home health testing space to low-risk targets that it believes, after talking with the FDA, fall outside of the agency's immediate purview.
For example, the company has developed an assay to detect polymorphisms in the MTHFR gene, which are associated with the body's processing of certain amino acids.
Beyond MTHFR, DeJohn said Biomeme is also considering assays for other genetic polymorphisms that might offer fun, but relatively low-risk targets for home experimentation. For example, he said, there are "20 or 30 genes like MTHFR … that are actionable, or health-related, but not necessarily diagnostic … which are connected to pathways that respond to vitamins and minerals."
"People spend a lot of money on this stuff and in many cases are spending a lot of money for no reason … One way to get more scientific about it is to get into these SNP tests," he explained.
The company is also considering tests for genes associated with response to caffeine or alcohol, markers linked to behavioral traits, and microbiome and environmental analyses, he said.
"It could be that you're testing your tilapia, or before you eat your sushi at your local sushi restaurant," he suggested.
In the longer term, Biomeme is also looking at how its instrument could be used for more serious clinical molecular diagnostics with higher associated risk but also proven utility.
With its portability, simplicity, and expected low cost, the system has clear potential for point-of-care applications. In the US, this would require collecting the necessary data to gain regulatory approval.
"We've spoken with the FDA and explored what it would take to get their approval. As with most things, an FDA approval process will simply be a matter of preparation and follow-through. When the time comes, we'll be ready," DeJohn added in an email to GenomeWeb.
He didn't detail any strategy Biomeme has for advancing specific diagnostic assays, but research efforts like the Drexel team's, which is using Biomeme instruments for STI testing under IRB approval, could potentially contribute data toward this goal.
DeJohn did say that pursuing molecular diagnostics applications for the instrument outside the US might be easier, and the company may also look into that possibility.