Last Thursday’s USA Today had a cover story examining where genetic research stands a decade after the first draft of the human genome was mapped out. (See also N.Y. Times).
You might recall how at the time that milestone was heralded as an earthshaking biological advancement–how it was going to usher in the age of personalized medicine where doctors knew in advance what health problems patients are genetically predisposed to develop and could treat them accordingly.
Ten years later that promise has yet to be fulfilled. Researchers still cannot tell which genetic markers are linked to heart disease or cancer. By and large, a simple family history remains a better forecasting tool for some conditions than genetic code.
So has the Human Genome Project has been a bust? Was all the hype akin to the mid-twentieth-century predictions of flying cars?
Not exactly. Geneticists have made notable progress in their ability to plot the genome, they just haven’t been able to figure out exactly what the markers mean. They’re starting to find that some common genetic variations are statistically linked to certain diseases, but thus far those discoveries have only turned out to be one of a number of risk factors in predicting the disease.
What researchers need to do is map out many complete genomes to see if they can link rare genetic variations to diseases. Fortunately, this has now become technologically feasible:
Stunning advances in sequencing technology have cut the time it takes to decode a genome from a decade to a couple of weeks. The cost has dropped from $3 billion, about $1 for each of the genome’s 3 billion chemical components, to less than $10,000, with the $1,000 genome in sight.
Geneticists will soon have a lot more data to crunch–whether or not it leads to meaningful advances in therapeutic medicine in the next decade remains to be seen.
Whenever this topic is raised one question I ask myself is this: How much do I want to know about my DNA? Do I really want to know that I have a strong chance of getting cancer, for example, particularly if there’s little that can be done to prevent it?
A few years ago I would decisively said, “I want to know.” And still today, on balance, I probably want to know. But a recent incident gives me more pause.
A few months ago I was experiencing some physical discomfort, so I went through WebMD and a couple other medical sites and looked up nearly all the diseases and conditions that might account for my symptoms. In the course of my investigation, I diagnosed myself with a number of serious–some even fatal–afflictions.
Suffice it to say, I don’t have any of those diseases. But I got worried that I did. And, taken overboard, that reaction can be counterproductive.
If I’m getting worked up over the mere possibility of contracting a disease, even when I know the odds against it are high, imagine what kind of worrywart I might become if I’m armed with a little knowledge about my genetic predispositions? I can see myself going into red alert mode every time I experienced a fleeting symptom. It would be unhealthy for my emotional wellbeing.
For now it’s a moot concern, since I haven’t taken a DNA test. Perhaps by the time I do researchers will have found a cure for whatever disease that threatens me. Then I won’t have to worry about it.