An interesting article recently appeared in the NYTimes (09-15-2008):
A Dissenting Voice as the Genome Is Sifted to Fight Disease; A Scientist at Work by Nicholas Wade
Highlights:
1. Common disease/common variant hypothesis: “decoding the human genome would enable the discovery of the variant genes that predispose people to common diseases like cancer and Alzheimer’s" (cardiovascular disease, diabetes, obesity, etc).
2. David B. Goldstein of Duke University, a leading population geneticist, says” the effort to nail down the genetics of most common diseases is not working."
3. “The reason for this disappointing outcome, in Goldstein’s view, is that natural selection has been far more efficient than many researchers expected at screening out disease-causing variants. The common disease/common variant idea is largely wrong. What has happened is that a multitude of rare variants lie at the root of most common diseases, being rigorously pruned away as soon as any starts to become widespread.”
4. “If rare variants account for most of the genetic burden of disease, then the idea of decoding everyone’s genome to see to what diseases they are vulnerable to will not work, at least not in the form envisaged.” “There is absolutely no question,” Goldstein said, “that for the whole hope of personalized medicine, the news has been just about as bleak as it could be.”
The entire article can be found at (NYTimes: free subscription):
http://www.nytimes.com/2008/09/16/science/16prof.html?ei=5070&emc=eta1
Discussion:
They have spent over $ 3 billion to ‘crack’ the human genome; an interesting scientific exercise that ‘drove major developments in biology over the last five years’. So, all is not lost.
But, as far as I can tell, the outcome of their ‘common disease/common variant hypothesis’ was a no-brainer from the start. Natural selection does not select for defective genes ‘predisposing’ us to disease even ‘later in life, after our reproductive years are over’.
This article supports what I wrote in my blog article “Germ to Genetic Theory” (posted August 16, 2008):
“True genetic diseases such as Down’s syndrome, Hemophilia, Cystic Fibrosis, Sickle Cell Anemia and others are 100%. They affect 100% of those with abnormalities in their genes or chromosomes that occur at conception. Fortunately, they are also relatively rare.”
Our bodies are genetically hardwired with mechanisms to ensure survival of the individual and of the species: growth, protection and reproduction. We are not genetically wired to fail with diseases.
The variant genes that lie at the root of most common diseases represent genetic adaptations to environmental and lifestyle exposures, as they adversely affect genetic expression.
Until there is a paradigm shift away from
A disease care system that believes we are inherently and inevitably prone to disease
to
a wellness care model rooted in nurturing our genetic predisposition for health.
…the current failed profit-driven disease model will prevail. And, more of us will be sicker and die each year.
We are hardwired for health; meaning, health is largely by choice (lifestyle decisions), not chance (genetic pre-determinism/genetic destiny)!