As a child, you could always count on it, even after—especially after—you struck out playing T-ball, forgot your only line in the grade school play, and came home with chalk in your nose because you took the schoolyard dare. No matter what, your mom would hug you and tell you that you were special. Turns out, she was right.
Each of us is special and unique among the roughly 7 billion humans on this planet. We are the walking, talking instantiation of the 3 billion instances of four nucleotides (abbreviated GATC) that constitute our unique genome’s DNA. Equally important, the interplay of that DNA with the environment and our individual lifestyles determines our susceptibility and predisposition to diseases.
Suppose you’re now middle aged and chest pains send you to a physician. You can’t change your genetic profile; it’s your parents most basic and lasting gift. However, that fondness for double bacon cheeseburgers and butter pecan ice cream, and an exercise regime that is all-too-frequently limited to wistful looks at the running shoes in your closet, both have consequences. That’s why your mother also warned you to eat your vegetables and wash your hands, not that you listened.
Today, your physician would run diagnostic tests, compare your current health and test results to that of a typical human of your age and gender, and treat your disease accordingly. Even though you’re special, today’s medical treatment is still generic. Therein is the problem. You are custom made, with a unique combination of lifestyle, environment, exercise patterns and food preferences. Although your nominal genetic profile is determined at conception, which genes are expressed (turned on) varies across organs and even with lifestyle and diet. Hence, it is not surprising that your reactions to a medical treatment may be quite different from another individual with the same test results.
That is all about to change. What biologist Leroy Hood has called P4 medicine—predictive, preventive, personalized and participatory—is tantalizingly near. The building blocks of that future are a deeper understanding of biological processes and continued advances in mobile sensors and big data analytics. Let’s imagine the future, one where you really are special.
Your physician will compare your current health to the best possible baseline. That would be you, but you in the best physical and mental condition of your life. Perhaps you were 25, at your optimum weight, exercising regularly, getting plenty of sleep, and eating a well-balanced diet (those vegetables again). Your physician would then tailor your treatment based on a detailed understanding of your genetic profile and gene expression, your current lifestyle and environment, and your body’s specific reactions to the prescribed treatment.
Continued advances in microfluidics, nanotechnology, microelectronics and robotics are rapidly reducing the cost of genome sequencing and metabolic characterization. Just a decade ago, the Human Genome Project spent over $3 billion to sequence one genome. Today, that same process costs just a few thousand dollars. In a few years, sequencing and metabolic analysis will be a routine diagnostic test costing just few hundred dollars. Everyone will know how their biological engine is working, and how it compares to that magical time when they were 25.
This will be great news if you are sick. The real trick is keeping you healthy, despite your penchant for bacon cheeseburgers, eliminating the need for many treatments by predicting disease and intervening to prevent it. The key is detecting subtle changes in gene expression and metabolism before they become manifest as illness. Your biochemistry tells the tale before you feel sick.
Thirty years ago, we depended on dashboard gauges, red lights, dripping fluids and strange noises to alert us to vehicle problems. Today, all vehicles have on-board diagnostics that continuously monitor mechanical and electrical systems, comparing their current state to the factory norm. Those same diagnostic systems alert the owner of impending problems and routine maintenance, and provide a detailed history for repair. Don’t you deserve at least the same early, unobtrusive warnings about your health?
A combination of technologies based on nanomaterials, microfluidics, semiconductors and wireless sensors will bring inexpensive, real-time monitoring to personal health care, regularly comparing an individual’s current metabolic state to his or her personal optimum. Stripping away the technical jargon, it means each of us may have wearable and perhaps implantable metabolic diagnostics, providing a better early health warning system than nature gave us.
The consumerization of IT will drive the final, sweeping change in participatory health care. Smartphone apps that measure lung function by listening to breathing and that assess blood pressure and heart rate via cameras are just the first wave. The emerging Internet of Things—ubiquitous, inexpensive wireless sensors that unobtrusively capture environmental, behavioral and physiological data—will provide lifestyle context that complements on-board medical diagnostics. The Star Trek tricorder is in sight.
The combination of data analytics, lifestyle sensor data and metabolic diagnostics will let aging seniors live healthy, independent lives for far longer, help everyone balance lifestyle choices and genetic health risks, and schedule preventative health care based on early warning signs. Equally important, it will empower individuals to manage their own health, working in partnerships with health care providers.
Despite all that, it’s still important to listen to your mother. Respect others and the privacy of their data. Eat your vegetables and wash your hands. If you can’t go easy on the bacon cheeseburgers and butter pecan ice cream, at least walk to the burger joint and the ice cream parlor.