Epistasis Blog

From the Artificial Intelligence Innovation Lab at Cedars-Sinai Medical Center (www.epistasis.org)

Thursday, November 19, 2009

A Genetics Company Fails, Its Research Too Complex

According the NY Times, deCODE Genetics filed for bankruptcy on Tuesday. This in my mind is the last nail in the genome-wide association study (GWAS) coffin. deCODE and the many other people pushing technological solutions to complex problems in human genetics have failed because they assumed there was a simple relationship between genotype and phenotype. The optimism expressed by Altschuler at the end of this news article is the last gasp from those going down with the sinking ship.

Does this mean we will return to thinking about the problem and coming up with intelligent solutions? Unfortunately not. Altschuler and his many colleagues that influence research funding and publication are now pushing whole-genome sequencing and rare variants as the next solution. I predict this will be no more successful for diseases such as hypertension and bipolar depression than GWAS was. We need to be very careful as we go down this road. The public and congress may not be able to stomach another grand failure to live up to the hype. One might predict that funding for genetics will dry up once deep sequencing fails to reveal the missing heritability. Articles such as the one that appeared recently in The Economist hint that we might be in trouble. It might be a good time to think about retooling as a physiologist.


At 6:39 AM, Blogger red said...

In a sense we've come full circle, since a linkage study in an extended pedigree is arguably the best way to find a high penetrance rare variant. I'm amazed at the amount of money these NGST studies will need, with sometimes very shaky grounds for believing anything will be found. Would disease risk due to a "burden" of de novo mutations lead to the observed heritabilities? Do we need more better bigger family studies?

Ricardo Segurado

At 12:06 PM, Anonymous Anonymous said...

Quick question from an interested layperson: what is GWAS? Genome-wide-association studies?


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