As cofounder of a Philadelphia start-up, Perelman is itching to prevent such incidents with Biomeme, a system that pairs with a smartphone to form a disease-diagnostics lab the size of a soda can.
The company wants to democratize rapid, cheap biological testing with quick turnaround for use by health clinics and, perhaps one day, ordinary people from home.
"We see this as a way for people to look at the genetic world, and getting it in the hands of everyday consumers would be really beneficial," cofounder and biologist Jesse vanWestrienen said. "Long term, we want this to be used by everybody in some way."
Biomeme is part of an exploding health trend that aims to exploit the accessibility and built-in capabilities of smartphones. Mobile apps can track our daily sleep cycles, steps walked, calories consumed. They can help locate Alzheimer's patients and assist with the management of diabetes.
Biomeme's system - which includes a sample-prep kit and a sleek phone docking station - wants to take the trend farther, sniffing out the DNA signature of bacteria or viruses in a sample of saliva, blood, or urine. It uses the same proven technology as lab instruments 10 times its size.
Much of its early customer base consists of curious institutions like the U.S. Army and Air Force, which showed interest in using Biomeme for biothreat detection in the field. The Gorgas Institute, Panama's leading public health research center, wants to do tropical-disease biosurveillance with Biomeme's system. And a biochemistry professor at Charles Darwin University in Australia thinks her students could do DNA diagnostic labs at home using Biomeme rather than at university laboratories.
Geneticist Muin Khoury of the federal Centers for Disease Control and Prevention suspects such a device could also be useful for field investigations of outbreaks and large-scale public health studies. But first, Biomeme needs to prove it works on real samples.
"What does a positive test mean? What does a negative test mean? Is it giving accurate results? These are the hard questions that they have to address," he said.
Next year, the company plans to do its first studies with human samples through a collaboration with the Drexel University College of Medicine, using urine from patients with and without gonorrhea. Data from Biomeme will be compared to the diagnostic lab equipment already in use. If all goes well, the physicians will then take Biomeme for a test drive in the women's health clinic to get rapid results for sexually transmitted diseases - a process that usually takes several days.
Biomeme's system consists of two parts: a sample-prep kit and the diagnostics hardware. The sample-prep kit contains test tubes and freeze-dried chemicals color-coded for ease of use that break down cells and purify the genetic material inside.
After a bit of syringing to get rid of unnecessary cellular bits, the search for the needle in a genetic haystack begins. The system uses a technique called quantitative polymerase chain reaction (qPCR) that looks for a specific segment of DNA in the sample - say, that of a flu virus - and, if it is there, makes copies of it using enzymes that react with repeated heating and cooling cycles.
"qPCR is essentially a photocopier for DNA; you can go from one copy of DNA to billions," vanWestrienen said.
By attaching the DNA to a light-emitting molecule, Biomeme can use the phone's camera to monitor the reaction in real time. If the camera detects more light as more copies are made, the sample is positive for flu virus, but if it stays dark, that means flu virus was never present.
After about 40 cycles, there would be enough DNA snippets to make them easier to find.
Biomeme uses every part of the smartphone it can, not just the camera. The phone's processor is used to run the raw data through algorithms, and the results are then sent to cloud storage via wireless or cellular connection, along with a GPS-tagged location.
"All of those elements are elements we don't need to include in our hardware," Perelman said. "They are elements that Apple and Samsung are experts at, and why not piggyback on that?"
Because it uses a number of components from the user-provided smartphone, costs are kept low; the device will ultimately cost about $1,000.
In April, the three cofounders of Biomeme - Perelman, vanWestrienen, and engineering guru Marc DeJohn - uprooted their lives in California and Arizona to try their luck as full-time entrepreneurs as part of DreamIt Health Philadelphia, a four-month boot camp that helps start-ups get off the ground. In partnership with Independence Blue Cross and Penn Medicine, it provided Biomeme with $50,000 in initial funding as well as office space and mentorship. Through a mix of crowdfunding and large investors, the company has since amassed more than $1 million.
It has settled in as a resident company of NextFab Studio, a manufacturing hub with everything from electronics labs to 3D printers. There are four full-time employees - the cofounders and a software lead - along with a handful of consultants. The name of the company comes from the obvious biology application ("Bio") plus "meme," a term for any idea that goes viral.
"We want to spread biology to the population just like a meme, to empower consumers and patients," Perelman said. Maybe your child has a sore throat, and you want to check for strep without wading through paperwork and red tape. Or you feel awkward about going to the doctor for a gonorrhea test and would rather do it yourself at home.
However, some medical experts aren't thrilled about the idea of patients one day diagnosing themselves without consulting a physician. The CDC's Khoury, though optimistic about the clinical applications, remains cautious about home-based DNA diagnostics.
"I worry a bit about the home part of it," he said. "I love technology, but I don't embrace it blindly."
"People can't examine themselves," said cardiologist Arthur Feldman, also executive dean at Temple University School of Medicine. "There's importance in receiving the advice from a caregiver - somebody that can talk about risks and benefits, along with whatever treatments are available."
Such concerns will likely keep Biomeme's diagnostics-for-all vision firmly in the realm of pipe dreams, at least for the near future. Historically, the Food and Drug Administration hasn't been too keen on at-home DIY disease testing. For instance, the oral swab-based rapid HIV test OraQuick was approved in 2004 only for trained technician use; it took seven years for an at-home version to hit pharmacy shelves.
"We know that for human health applications, the FDA absolutely has to be involved," vanWestrienen said, who calls the approval process "an arduous task."
They haven't spoken with the FDA, although they have a kind of regulatory Sherpa to help them through the process. But rather than worry about it, Perelman remains excited about overseas prospects for now.
"If we can get cost of goods down very low, it will be affordable very soon for everyone," he said.
Source: http://www.philly.com