An article in Issues in Science and Technology

Regular MT readers will know that some of us here have a very skeptical view of the obsession with genomewide association mapping (GWAS) for every trait under the sun.  We think that mapping served a purpose once upon a time, to show that complex apparently polygenic traits really were complex and polygenic.  Identifying many contributing genome regions showed that, and that each individual has a unique genotype and that many or most relevant variants were too rare or their effects too weak to be detected (most heritability wasn't accounted for by the mapping).  When tens, hundreds, or even thousands (yes!) of genome sites were claimed to contribute, it has seemed we're lost in never-never land when it comes to sensible explanations of causation.

But the funding keeps flowing for this mostly useless sort of Big Data (sorry, we can't salivate over that phrase the way so many do, because we're no longer out hunting for Big Grants).  Our view, expressed many times and in many ways here, is that we need better ideas about the relationships between genes and health, and between genes and our traits and their evolution.

We've written about this in the past, but rather than do that again, I've written some of these issues in a somewhat different way in a new paper.  That paper, in the new, Fall 2017, Issues in Science and Technology, "Is precision medicine possible?", lays out some thoughts about genetic causal complexity vis-à-vis 'precision' genomic medicine, and the challenges we face.




Rather than rehashing here what you can see in that article, if you're interested, just go to the article. It's in a journal related to policy, but the odds that any policymaker will read it carefully much less do anything constructive in response are between slim and none.  Still, blogs are for stating a point of view!

The people whose truly genetic disorders are not being alleviated because we're dumping so much resource into stale ideas are being shortchanged.  However, until we've made the alternative investment, in attack rather than 'mapping' disease, we'll not know how preventable or treatable they may be.