Like Us, Personalized Medicine is More than Its Genes

Millenson_122k_3 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
Disillusionment.

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.

The Gartner Hype CycleIndeed, 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
services.

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.”

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4 replies »

  1. Michael-
    Thanks for your insights. One item I’d add is that progress in this arena requires that we absorb a fundamental paradigm shift in health care. If health today is about reaching full human potential (with implied rights and responsibilities for individuals, families,communities, and care professionals), then the practice of “health care” becomes a forward facing, 100 year+, strategic health planning exercise, customized and personalized down to the individual level. The challenge? Organizing such an effort absent an online “killer application” to collect and organize data to allow plan creation, plan updates and plan adherence. The Lifespan Planning Record (LPR) is more then an EMR and PHR. While it is today a concept (www.lifespanplanningrecord.org), within 5 years it will be quite real, and will flip our approach from intervention to planning overnight.
    Mike

  2. And all technological advances aside, medicine will never again become as personalized as it was say back in the 1960s until the management of patient care and the management of how doctors spend their time is less controlled by a health care industry dominated by insurance corporations that are dedicated to profit at the expense of patient care whenever they can get away with it legally – which is much of the time, considering how the health care lobby influences the legislation purporting to regulate it.
    As one current example from my sixteen-year ongoing Adventures in HealthCare Inc.: Since becoming completely housebound from a rare disease, I not only lack access to all specialists except podiatrists (there’s a nice market for cutting elderly toenails so as a younger disabled person I can count my good fortune on the toes of one toe), but even to consistent and competent primary care.
    The nurse practitioners that the home health agencies send out – we’ve tried each of the three available in my county and they all operate in the same manner – are a parade of changing faces, always rushed, cell phones jangling, and providing such minimal attention that the care has sometimes been grossly incompetent to the point that we only have them out here because they insist on once a month visits to collect a Medicare check. No doctor-patient relationship exists; they’ve done nothing for me; once they did something to me; and we only put up with them because otherwise there’s no way for me to get prescription refills.

  3. With regard to cancer medicine, in obtaining information from DNA analysis (gene mutations) and/or RNA analysis (gene expression) it must be realized that DNA structure is only important insofar as it predicts for RNA content, which is only important insofar as it predicts for protein content, which is only important insofar as it predicts for protein function, which is important only insofar as it predicts for cell response, which is only important insofar as it predicts for tumor response and function. In other words, it correlates only with response and not survival, in entirely retrospective (not prospective) studies.
    But specialty medical societies and other fraternal organizations have endorsed the clinical application of DNA analysis (which have been shown to correlate only with response and not survival) without endorsing the clinical application of cell function analysis (which have shown correlations between test results and patient survival). Cancer is a complex disease and needs to be attacked on many fronts. The most beneficial thing to do is to combine these different tests in ways which make the most sense.
    It should be in the FDA’s interest in saving the healthcare system perhaps billions of dollars a year by ensuring that expensive treatments are used appropriately. It should serve their interest not only in discovering new cancer treatments, but also using currently-available technologies to improve the effectiveness of existing drugs and save lives today by administering the right drug to the right patient at the right time.
    Technologies, developed over the last twenty years by private researchers, hold the key to solving some of the problems confronting a healthcare system that is seeking ways to best allocate available resources while accomplishing the critical task of matching individual patients with the treatments most likely to benefit them.

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