Tuesday, September 16, 2008

The Human Genome Mapping Project: Failure?


The New York Times yesterday published an in-depth article about the projected realization of actual benefits from the human genome project. The goal behind the $3 million project was to isolate and eliminate "variant" genes, which predispose people to disease. The basic hypothesis that the research was predicated on was the common disease/common variant hypothesis.
The idea is that the varient genes are only around because they have not been eliminated by natural selection becasue they only harm people later in live after reproductive years are over. We are just starting to learn how wrong this hypothesis is.

The article quotes David B. Goldstein of Duke University, a leading young population geneticist who says the effort to nail down the genetics of most common diseases is not working. “There is absolutely no question,” he said, “that for the whole hope of personalized medicine, the news has been just about as bleak as it could be.”

All of this has develped a split between researchers who want to continue to do huge, nation-wide studies to find these common variant genes, and those, like Goldstein, who think it is a pointless, needle-in-the-haystack exercise. Goldstein says that the genetic burden of disease lies in rare variants. It takes large, expensive trials with hundreds of patients in different countries to find even common variants behind a disease. Rare variants lie beyond present reach.

Yet, we hear so much about the successes of the project. It seems like we hear in the news all the time about a new gene that has been identified for a disease. Apparently, some of this publicity is well-founded, we are identifying precise genetic differneces in humand that contribute to variation in disease susceptibility. "But while the media trumpet the successes of genome scans, little attention is paid to their failures. The fact remains that despite the hundreds of millions of dollars spent on genome-wide association studies, most of the genetic variance in risk for most common diseases remains undiscovered. Indeed, some common diseases with a strong heritable component, such as bipolar disease, have remained almost completely resistant to GWAS."

Is it just going to take time for the science to use biotechnology to solve problems? Is it a funding problem? Is the US falling further and further behind in the math and science fields. It seems like we are due for a breakthrough, right?

1 comment:

Pin Money said...

Of course it is not a FAILURE. Its a funding problem. There is no money in fixing real problems - only money in fixing fake problems. Like cleaner laundry or fresher fabrics.

That said, I'm happy someone is giving something else a shot since they have no idea why the drugs mostly work. It is not easy being bi-polar even if my whites are whiter than white.