Genetic Science Not the Holy Grail in Disease Prevention

I was recently at a health conference in Boston where some cutting edge health and life science technologies were being shared with the business and investment community.  Incredible presentations were made in social health networking by people like patientslikeme.com as well as some promising medical devises and molecular breakthroughs.  There was a lot of hype and sizzle around several genetic ventures that promised an individual road map for avoiding, preventing and erasing chronic disease.  That sounded pretty cool, but when I saw the reports, it became clear that these services cost a lot and offered very little beyond common sense and conventional wisdom.  Today’s article in The New York Times talks about a series of commentaries in the New England Journal of Medicine that largely reach the same conclusion.

One of the presenters touted the ability to “pinpoint risk” but the risk they cited could be easily identified without spending hundreds of dollars.  For example, they showed a genetic pathway and marker linked to heart disease.  Well, we can easily identify risk for heart disease and other conditions in the metabolic cluster by asking about family history, measuring blood pressure, measuring body mass index and/or waist circumference and doing a simple blood test.    All this for a fraction of the cost of the gene test.

And then you have to ask does the genetic test offer a different “so what?”  Whether I have the marker or not, the only realistic options I have to reduce my risk for heart disease are to exercise more, eat more sensibly, stop smoking if I haven’t already and stay on my blood pressure or cholesterol medicine if it has been prescribed by my doctor.  It isn’t like there will be a genetic fix to my risk – indeed there are so many pathways and markers to disease that we will all show up on the risk for many, many diseases.  To quote David B. Goldstein, a Duke University geneticist whose commentary on the subject appears in the current New England Journal of Medicine;

“In pointing at everything, genetics would point at nothing.”

And what if the test showed no risk for heart disease? Does that mean my being 30 pounds overweight, sedentary and a heavy smoker are now OK?  Or will by good genes be trumped by my bad lifestyle?  You know the answer there!

I came away from the conference concluding that the genetic approach is useful for simply demonstrating that an individual is a human being and that human beings  carry many risk factors for disease.  An incontrovertible proof, but one hardly worth the price of the test. 

Don’t get me wrong, if you suspect that you carry a genetic marker for aggressive breast cancer or other rare but deadly conditions, a gene test might be best to help you make difficult and critical decisions.  But for most chronic conditions, most of us can assume that we have risk, we can even measure and rank that risk and most importantly, we can do something about that risk.  While our gene story is interesting, it is not that clinically relevant.   To quote Dr. Goldstein again;

“With only a few exceptions, what the genomics companies are doing right now is recreational genomics, the information has little or in many cases no clinical relevance.”