After 14 years as chief of cardiovascular medicine at the Cleveland Clinic, Eric Topol moved to La Jolla, Calif., in 2006 to become director of the Scripps Translational Science Institute, which was established to apply genetic discoveries to personalized medicine. Three years later, he helped launch the West Wireless Health Institute, for which he is vice chairman and which is investigating use of wireless technology in the delivery of health care.  

 The convergence of these two fields—genomics, marked by the rapidly plummeting cost of sequencing a person's entire genetic code, and wireless, with its flurry of innovative health-care apps—led Dr. Topol to write "The Creative Destruction of Medicine," a book that offers an illuminating perspective on the coming digitization of health care. It's also a reminder that while medicine is one of the globe's premier drivers of innovation, it is also a conservative culture that now finds itself buffeted by transformational change. 

Following are some excerpts of an interview with Dr Topel by The Wall Street Journal's Ron Winslow:  

"Eric Topol advocates the transformative power of technology like the MinIon, a disposable device being developed to sequence parts of an individual's DNA; a mobile patient monitor enabled by an iPhone app; the Zio patch, worn above the heart to check for irregular heartbeats; and a contact lens embedded with a chip to measure eye pressure for people with or at risk of glaucoma. There are two levels: 

• One is that in medicine, everything we do essentially is at the population level. Whether it's mass screening or giving the same medication to all people with a particular diagnosis, this doesn't recognize the individuality of people. I think it's fundamentally flawed. We now have the tools to do much better.
• The other is this analog world medicine lives in. The field has resisted a truly remarkable digital infrastructure to the nth degree. It hasn't really embraced genomics, wireless biosensors or advanced imaging that could be used to make medicine more precise. Or social networking. The digital world has been in a separate orbit from our medical cocoon, and it's time the boundaries be taken down."

 Furtheromore, Dr Topel explains that the ability to sequence the human genome is finally making a difference, but it's far beyond that. By applying biosensors to the body, we can measure any physiologic metric—blood pressure, glucose, oxygen concentration in the blood—and send the data wirelessly through smartphones to doctors. That means you have this panoramic, high-definition, relatively comprehensive view of a patient that doctors can use to assess and manage disease, and that patients can use to help maintain their health and direct their own care.  That is the essence of digitizing a human being. For medical purposes, it's getting all the essential data, and it will be the information to radically transform the future of medicine. Many of these things could be adapted today.

The DNA Capsule

The Personalization of Medicine and Health:

We're all essentially surgically connected to our smartphones, and we're still in the early stages of realizing their medical potential. But they should be a real threat to the medical profession.  You can get an add-on to a smartphone which does eye refraction and your prescriptionis gets text to get your glasses made. If you're an optometrist, you might be worried about that. Or you can get your skin lesion scanned and get a text back quickly that there's nothing to worry about. If you're a dermatologist, that's a big part of your practice. You will be able to take a DNA sequence on a USB port and pop it into your smartphone and get data out of it. It just goes on and on.   For example,  let's say you want to prevent a child from ever having an asthma attack. You would know genomically from their DNA sequence that they're predisposed to asthma. Then you would apply a biosensor that could be worn to detect the early signs of an asthma attack and send data to the doctor through a smartphone before it occurred. Then medications could be used to ward off an asthma attack. Using the DNA sequence, the drugs would be matched up to the child's biologic basis for asthma, predicting responsiveness and the absence of significant side effects. With digital tools, if you're seeing someone who has high blood pressure and blood-sugar problems, a lot of the data that's relevant could be sent through the Web before or during the visit. That's different from today, when you and your doctor don't have data available during the visit. But the other thing to consider is that in the future, many office visits will not be in person; they will be "house calls" through Skype and FaceTime and other video links. When you have this type of rich data on an individual, there's a tendency to treat the scan or treat the DNA or treat the sensor data output rather than the patient. But it can actually increase the intimacy. I use a portable pocket ultrasound device instead of a stethoscope to listen to the heart, and I share it with the patient in real time. "Look at your valve, look at your heart-muscle strength." So they're looking at it with me. Normally a patient is tested by an ultrasonographer who is not allowed to tell them anything. They have to call the doctor and ask, "What did it show?"  

 The fact that consumers will have this ability to have themselves—their genome sequence, their lab tests, their tissues—digitized on their smartphones and their social networks will reboot the way doctors interact with patients.  The skepticism is healthy, but we're already seeing remarkable effects in the precise management of cancer, in demystifying life-threatening and heretofore unknown conditions and matching drugs with a patient's genomic data.

In 2013, Max Perelman worried that his 3-year-old daughter's rash could be chicken pox or poison oak. After visiting the pediatrician, he waited for test results, promised within 24 hours, that never came - yet two months later, he received a $35 bill for his share of the care.

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.

Max Perelman and Jesse vanWestrienen, Co-Founders of Biomeme

"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 New Mexico 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.

Apps for Self-Treatment

Though Biomeme is still in its infancy, smartphones have begun to blur the lines between the doctor's office and our homes. Here are three apps that help patients self-manage chronic conditions:

• MediSafe Meds & Pill Reminder

Free for Android & iPhone; www.medisafeproject.com

Remembering to take medication isn't always easy, especially for children or the elderly. The MediSafe app pops up timely reminders for each medication you're taking. It can also notify family members or caregivers when you forget so they can nudge you to take your pill.

• Glucose Buddy Diabetes Helper

Free for Android & iPhone; www.glucosebuddy.com

Tracking diabetes is a chore, but the Glucose Buddy app seeks to relieve some of the burden with ready-made templates for logging your blood glucose levels, food intake, medicine, and activity. It also pops up with reminders to test your blood sugar.

• iHeadache

Free for iPhone; www.iheadache.com

Made for those with recurring headaches, the iHeadache app helps you track and analyze your headaches to tease out patterns and triggers such as alcohol or sleep deprivation. For each episode, you can record details such as pain level, location of pain, and medication taken. The app then creates graphs for review by you and your doctor. - Meeri Kim