PheWAS

Conceptually, phenome-wide association studies (PheWAS) are the inverse of Genome-Wide Association Studies (GWAS).  Whereas a GWAS investigates which of a million or more SNPs are associated with a single phenotype, a PheWAS investigates the association between genetic variation in a single gene with a wide range of phenotypes.

WHAT CAN A PheWAS TELL US?

PheWAS enables the non-hypothesis driven investigation of the phenotypic consequences of normal variability of gene function in the human population.  While similar in principle to investigations in knock-out animals (where a single gene is manipulated and multiple phenotypes examined), it probes the effects of smaller changes in gene function and has the obvious advantage of examining the human population directly.

WHAT DO PEOPLE USE PheWAS FOR?

PheWAS are typically used to investigate one of the following questions:

1. Target validation – a PheWAS may give you an indication as to whether pharmacological modification in man will have the expected effect.
2. Indication selection – what indication is the one most likely to be the most amenable to modification of my target?
3. Toxicology – a PheWAS enables identification of candidate toxicity pathways that may be linked to the target, allowing focused target-specific investigations to be added to early stage clinical trials, reducing the risk of later (and more costly) failure.

For more information on PheWAS, the implementation of PheWAS at Total Scientific or to discuss how PheWAS can help you, please contact us.