Posted by: drwbortz | August 26, 2010

EWAS and GWAS

I am certain that these two terms, EWAS and GWAS, are unfamiliar to almost everyone.  They certainly were to me as recently as Wednesday of last week, during the never-varying time for the weekly Grand Rounds of the Department of Medicine at Stanford Medical Center. The speaker was Atul Butte, my friend and colleague. Atul is the poster-boy of the hundreds of gene jockeys who hang out at Stanford, all of whom have been aggregated by the rich history of gene discoveries made here. A number of Nobel Prizes attest to the eminence of their research.

I have challenged Atul on numerous occasions because of his total immersion in the search for understanding of the central role of the gene, sometimes referred to as “The Holy Grail.” My intellectual challenge favors the environment in which the gene operates. My shorthand for this perspective is, “It ain’t the cards you’re dealt that matter so much as the way you play the hand.” The gene in its environment goes by the other term, epigenesis, which is increasingly recognized by scientists as the more-likely determinant of health.

Meanwhile the geneticists and the huge industry that has grown-up to support them, have been furiously pursuing a vague protocol that presupposes that genes are connected to diseases. This has generated the term, Genome-Wide Association Study (QWAS). Billions of dollars have been invested and spent, and trillions of pieces of information are available online to display these supposed connections.

Atul has been the leader of the parade of these studies. This last Wednesday morning at Grand Rounds he humbly acknowledged the poverty of these results, as he estimated that perhaps 6% of the major diseases could be explained by current gene analyses, through the GWAS.  The remaining 94% remains to be accounted for.

One of the principal diseases under study has been type 2 diabetes. Many thousands of gene analyses have yielded virtually nothing. The cover stories of both Time and Newsweek recently asserted that heredity is not destiny. Thus, these articles are another acknowledgment of the role of the environment,

Now we well know the causes of type 2 diabetes, which primarily are too much food and too little exercise. One of the highest incidences of type 2 diabetes in the world is with the Pima Indians of Arizona.  When these folks pursue their very physically-active lives south of the border, in Mexico, they have no diabetes. But as soon as they cross north of the Rio Grande, they find McDonald’s and a far-more leisurely life.  They soon thereafter develop diabetes. Their genes certainly have not changed during their trip north, but their lifestyle did.

Consequently, Atul and his buddies are expanding their bandwidth. Hence, the new term,  EWAS, short for Environment-Wide Association Study.

I have been fortunate to have intuited that this field would eventually emerge.  Though there are few gene studies pertaining to exercise, it’s obvious that exercise will not affect the presence or absence of the genes themselves, but rather their expression, their activation.  This fact effectively yields the basic reason behind the glaring but under-explored fact that exercise is good for everything. The work of Frank Booth in Kansas has been particularly productive, since his award-winning work has helped us understand how cellular and molecular mechanisms respond to exercise both anatomically and physiologically.

Now the field of genetic research is being validated, because of the expansion of its view to include the role of environment in gene expression within the realm of the EWAS. We can only hope that some of the glamour of the nonproductive GWAS will be transferred to its new derivative, EWAS. This is where the real action is going to be.

Medicine, like other cultural fields, contains a feature called structural lag, in which a latent period of lack-of-progress is followed by a new era in which grand comprehensive insights may flourish.

I am immensely cheered by the prospect.

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