For those familiar with the famous Gartner Hype Cycle, the page one New York Times headline, “Genes Show Limited Value in Predicting Diseases” spawned an uncontrollable urge to mark an “x” by the spot where the
Peak of Inflated Expectations starts its plunge into the Trough of
The Times’s curtain call for DNA cure-alls reported on a critical examination by the New England Journal of Medicine
related to the strategy of comparing genomes of patients and healthy
people. So-called genomewide association studies, it turns out, have
not fulfilled their goal of discovering DNA changes responsible for
common ills. Instead, they “explain surprisingly little of the genetic
links to most diseases,” wrote the Times. “The era of personal genomic medicine may have to wait.”
Note that the Times
carefully avoided the term “personalized medicine.” Despite the
tendency of drug and diagnostic firms to lay sole claim to that label,
molecular medicine comprises just one part of the personalized medicine
triad. Sickness and health are complex, and, like us, personalized
medicine is more than its genes.
Genuine personalized medicine represents a convergence of molecular
medicine, medical informatics and the digitally enabled social
revolution of patient empowerment. The result is an explosion in the
quantity of information about individuals and patient populations, its
specificity and the ways in which it can be analyzed and used.
This balance of forces is often overlooked in favor of a simpler story
line. The sequencing of the human genome in 2003 unleashed a burst of
feverish expectations in which magic pills provided long and healthful
lives for everyone. Alas, genomewide association studies have revealed
highly complex disease patterns that generally resist dreams of one
man/one pill/one cure.
Indeed, popular consumer-facing DNA analysis companies were dismissed by Duke University geneticist David B. Goldstein in the Times
as “recreational genomics” offering little or no clinically relevant
information. That hasn’t stopped eager entrepreneurs. A report on “the
promise of cheap genome sequencing” in the April 16 issue of The Economist
suggests that gene sequencing may one day become so cheap that it’s
provided free as a way to sell more lucrative gene interpretation
While wholesale cures for common ills may not be imminent, the use of
targeted therapeutics and diagnostics continues to expand. They range
from the serious – gauging an individual’s likely reaction to an
anti-cancer drug – to the almost-recreational. For example, a recent Times profile of hard-working budget whiz Peter Orszag
revealed he had taken a genetic test to confirm he could safely
metabolize large amounts of caffeine. More broadly, practicing
clinicians have begun to use genomic data as an input that can
significantly enrich more traditional information sources.
At the same time, the other two legs of the personalized medicine stool
are growing sturdier. Medical informatics is focusing more intently on
“predictive medicine” in a bid to prevent disease or maximize the use
of evidence-based treatments.
Similarly, genuine patient empowerment is moving from nicety to
necessity in a world where active patient participation is critical to
improving chronic disease outcomes and easy-to-use Web tools give
patients the option of undertaking significant self-care “off the grid”
of the traditional system.
There’s no doubt that personalized medicine is at an early stage and
that initial expectations were overheated. Nonetheless, the vision of a
health care system where care and caring can be fine-tuned to fit our
economic, clinical and emotional needs remains a compelling one.
Equally compelling are the genuine advances in biology, mathematics and
the social sciences continue to drive personalized medicine forward.
If the Gartner model holds true, the Trough of Disillusionment will
soon give way to steady progress up the Slope of Enlightenment leading
inexorably to the Plateau of Productivity. In other words,
personalized medicine will become, simply, “medicine.”