Digitizing Human Beings

Our day-to-day lives were reformatted when the consumer mobile wireless device era, beyond cell phones, was ushered in by iPods in 2001 and followed in short order by Blackberries, smartphones, e-readers, and tablets. Nurturing our peripatetic existence, we could immediately and virtually anywhere download music, books, videos, periodical, games and movies. Television is soon to follow. But these forms of digital communication and entertainment are a far cry from digitizing people.

This decade will be marked by the intersection of the digital world with the medical cocoon, which until now have been largely circulating in separate orbits. The remarkable digital infrastructure that has been built—which includes broadband Internet, cloud and supercomputing, pluripotent mobile devices and social networking― is ripe to provide the framework for a most extraordinary upgrade and rebooting of medicine.

When I was finishing my internal medicine training in 1982 the term “digital” in medicine referred exclusively to the rectal examination. Now, 3 decades later, there are 4 domains of what comprises digital medicine―genomics, wireless sensors and devices, imaging and health information systems. Each of these digital medical technologies are on exceptionally accelerated growth curves. In 2012, complete DNA sequencing of all 6 billion bases of a diploid human genome will be accomplished in 2 hours at a price well under $4000. Already DNA sequencing is having an impact in medicine for specific gene-drug interactions, targeting of cancer therapy by defining tumor driver mutations (comparing somatic versus germ-line DNA), and demystifying life-threatening idiopathic diseases. Just a few years ago wireless sensors got their start for consumers in the health and fitness space, with wearable accelerometers in running shoes, bracelets, necklaces or clips. Now a brain wave sensor can be used to continuously monitor one’s phases of sleep and wakefulness.

Sensors for real time, continuous or intermittent remote monitoring are now available for glucose, heart rhythm and ocular pressure. Virtually every relevant physiologic metric can be captured via a wireless sensor that is in development, including all vital signs such as blood pressure and blood oximetry. A third domain of miniature high resolution imaging, in the form of handheld ultrasound devices the size of a cell phone with wireless transmission capacity, and other portable imaging including X-ray and magnetic resonance in development. The fourth domain of electronic health records and health information systems is the only part of digital medicine that the United States Affordable Care Act has been given a significant priority and a $40 billion investment.

In aggregate, the 4 domains of digital medicine provide an entirely new panoramic window to each person’s biology, physiology and anatomy– “high definition man”―for the first time in the history of medicine. For example, take the 70 million Americans already diagnosed with hypertension. It has been exceptionally difficult to get multiple readings for any patient and we know that at least 50% of patients with hypertension are poorly controlled. Lack of adequate control of blood pressure is associated with a higher incidence of stroke and heart attack. With the capability of continuous, seamless, remote blood pressure monitoring we will have a new window of this metric while an individual is sleeping or emotionally upset. And such data can be archived, processed, sent to one’s physician, or to a social network to set up managed competition among a group of hypertensives for optimal blood pressure control. The same principle can be applied across the board of physiologic metrics, such as glucose.

There are several challenges that lie ahead in order for the potential of digitizing humans to be actualized. First, there is the data flooding that is already occurring from sequencing genomes and capturing biosensor data. The signal processing of such big data sets, development of algorithms, software tools for annotation, and transforming rich data to practical information is daunting and a rate limiting step. Second, there is the concern about costs with the precedent that with every new medical technology there has been an associated increased economic burden to the health system. Will these tools in digital medicine provide a new precedent? That remains to be seen, but there are some promising early indicators such as the sequencing capabilities far outstripping Moore’s Law (and correspondingly costs are plummeting), and the obvious reduction of cost afforded by the use of a heart rhythm app for a smartphone instead of a Holter monitor or a handheld ultrasound pre-empting the need for a formal study. Third, each of these technologies needs clinical validation through rigorous trials. However, the size of such trials could be conceived as very small, with the extraordinary amount of data collected for each individual the ability to enroll the most suitable individuals and to favorably impact them with an intervention may be enhanced. In fact, the whole concept of “N of 1” clinical trials has been brought to the forefront with the new opportunities of data capture and targeted intervention. Fourth, there are clearly issues of privacy and security that need to be addressed, as with any digitized package that engenders the possibility for hacking and breach of the data. Already this has been a significant issue with electronic medical records indicating that much work must be done in this area for avoidance of a “digital dystopia” in medicine. Fifth, the paradox of having so much (or too much) information for any individual but for physicians to instead treat the scan, genomic data, or physiologic metric.

Notwithstanding these challenges, there remains a distinct and exciting opportunity for medicine to undergo a radical transformation. One that is driven by consumers, as it is their DNA, their smartphone, and their data—leading to active participation and real empowerment. The likelihood that consumers can drive this revolution is health care is potentiated by powerful social networking which has already had the profound impact of rapidly mobilizing millions of people for common goals.

Ultimately the need for hospitals except for intensive care unit beds will be put to question, as most patients can have remote pan monitoring at markedly lower cost. Similarly, the need for in person office visits should be greatly reduced with the ability to rapidly transfer relevant data and leveraging video links such as Skype and Face Time.  This might be conceived as “house calls” for the 21st century.

The dominant outgrowth of digitizing human beings is the realization of practicing individualized medicine. Instead of the profound waste in the use of prescription drugs, which amounts to more than $300 billion per year in the United States, the use of pharmacogenomics offers promise of precisely matching up the right individual with the right drug and dose. Similarly, the ability to capture data we have never been able to see before in people, like continuous blood pressure, may be a segue for better protection from heart attacks and strokes. Beyond the single metric like blood pressure, systems to detect an impending asthma attack (via integrating multiple metrics) or congestive heart failure before they happen may fulfill the long-standing goal of prevention. Steve Jobs was right on target when he said, “I think the biggest innovations of the twenty-first century will be the intersection of biology and technology. A new era is beginning, just like the digital one was when I was my son’s age.”

Eric Topol is chief academic officer at Scripps Health, a professor of genomics at The Scripps Research Institute and the author of The Creative Destruction of Medicine.