Understanding the world through genetics and new technologies

Friday, February 8, 2013


DNA (deoxyribonucleic acid) — it is literally the stuff of life.

Three billion instances of four nucleotides in the haploid genome define our humanity, and slight variations across those 3 billion instances are responsible for all our differences — including our susceptibility and predisposition to diseases.

In 2003, two groups, one public and one private, each succeeded in sequencing the DNA of one individual — a human genome — at a cost of roughly $3 billion. Today, you could have your family’s DNA sequenced for the price of a minivan. Very soon, having your DNA sequenced is likely to cost less than what most of us spend on gas for our cars each month.

What are the implications of inexpensive DNA sequencing for each of us? Today, if you visit your primary care physician, he or she compares your current health to that of a typical human of your age and gender. Therein is the problem. Every child’s mother is right when she calls her child special and precious. None of us is typical, yet today’s medicine treats us as if we are.

When you visit your physician in a few years, to what might he or she compare your current health? Ideally, it would be you at your very best, perhaps at age 25 when you were in peak physical and mental condition, at your optimum weight, and living a healthy lifestyle. Your physician would then tailor your treatment based on a deep understanding of your unique genetic characteristics, your current condition, physical environment, and your body’s reactions to those treatments. This is the promise of personalized medicine — more effective treatment tailored specifically for you.

Understanding our DNA is essential, but it is not enough. We also need inexpensive and routine diagnostics that can compare the “current you” and the “healthiest possible you” to determine what is wrong. All of this is analogous to how we now diagnose automobile problems. Today’s mechanics read the data from the vehicle’s onboard monitoring electronics, which includes the vehicle’s history of operation and any deviations from the factory specifications.

New technologies are bringing the medical diagnostics version of personal monitoring ever closer. There are already smartphone apps that can measure heart rate and lung function, wearable devices that monitor exercise and sleep functions, and wireless meters for glucose monitoring. The “Star Trek” tricorder is on the horizon.

Like all new technologies, genetic medicine brings a new set of societal questions. If DNA sequencing uncovers an untreatable genetic defect, do you want to know? What is the appropriate ethical and economic balance between personalized health care treatment and cost? How do we protect individual privacy in a world of “big data” and inexpensive health monitoring devices?

As a comprehensive research university, the University of Iowa is a major participant in all aspects of the ethical, social and legal frameworks that will govern this transformation, as well as genetics-based biomedical research, technology transfer and commercialization.

This exciting new world of personalized medicine is ripe with the promise of improved health for Iowa’s citizens, by helping our children remain healthy, by allowing our seniors to live independently for longer periods, and by ensuring our citizens in rural areas can monitor their health in detail.

Remember, we are all special. Our DNA tells us so.