Health care reform is about personalized medicine

By Tom Walsh

BAR HARBOR, Maine - Despite all of the inescapable and apparently interminable blather about health care reform, the real and lasting transformation of health care delivery isn't about what's happening on Capitol Hill. It's about what's happening in biomedical research laboratories, in Iowa City, here in Maine and around the world.

What's happening in the halls and cloakrooms of politics is about money. What's happening in basic science research labs is about science. It's about science that is already making obsolete the one-size-fits-all approach to medicine that we've all come to know, and hate.

Years of hearing about, reading about and now writing about the Human Genome Project finally awakened me to the reality that, technically, there is no such thing as a human genome. At least there isn't in the sense of the mistaken notion that you and the other 6.9 billion (and counting) humans now inhabiting the planet share an identical distribution of genes on your respective 23 pairs of chromosomes. Au contraire.

While your genetic soup is probably 99.9 percent identical to mine, it's that other 0.1 percent that makes each individual unique. That's possible because the genetic code uses a four-letter “alphabet” of DNA base pairs to determine what 3 billion letters will be included in writing the recipe that makes your soup unique to you. The complexities of the genetic code that created you and that maintains and sustains your body and mind are yours, and yours alone.

The immutable fact that each of us is unique on a biomolecular level is the central truth driving advances in the rapidly emerging field of personalized medicine. Because each of us is different, there is the potential for each of us to respond differently to health care strategies for prevention, diagnosis and treatment of human disease.

A breast cancer drug may prove an effective treatment in some women, but may not work at all in others, delaying treatment that may prove effective. While a commonly prescribed dose of a blood thinner may have the desired clinical effect in nearly everyone, it can prove harmful or fatal to those with a rare genetic makeup for which there are now routine tests.

Specifically, personalized medicine allows clear and accurate understanding of each individual's disease susceptibility. That knowledge drives better diagnoses, safer and more effective approaches to prescribing drugs, and the newfound ability to target treatments. Personalized medicine is a new genre of medicine that trumps the historical trial-and-error paradigm that increases costs and delays effective disease management.

The ancient Greek philosopher Hippocrates said: “It's far more important to know what person the disease has than what disease the person has.” Those 17 words capture the essence of the emerging era of personalized medicine.

The bottom line is that medicine is becoming personal. It is being individualized as the human genome - your unique human genome - and its minute but universal permutations become better understood and as your genetic code becomes easier to read and interpret.

As genetic researchers around the world enhance understanding of the gene-based complexities of human health and disease, their bench science successes are being translated into improved human health worldwide, one unique genome at a time.

While the promise of genome-based personalized medicine is already being realized on a small scale, the best is yet to come. We are years, if not decades, from reaping the many benefits of the endgame.

The prize that human genetics researchers have their collective eye on is a new medical paradigm that affords accurate prediction, prevention, detection and disease management, using ever-emerging methods and tools that improve both clinical efficacy and cost effectiveness, both of which are keystones to any meaningful health care reform.

Tom Walsh of Gouldsboro, Maine, is a former Iowa City Bureau Chief for The Gazette who works as a science writer at The Jackson Laboratory in Bar Harbor, Maine.