Friday, May 8, 2015

Mendelian Instruments (Applied Econometrics meets Bioinformatics)

Recently I defended the use of quasi-experimental methods in wellness studies, and a while back I sort of speculated that genomic data might be useful in a quasi-experimental setting-but wasn’t sure how: 

If causality is the goal, then merge 'big data' from the gym app with biometrics and the SNP profiles and employ some quasi-expermental methodology to investigate causality.”

Then this morning at marginal revolution I ran across a link to a blog post that mentioned exploiting mendelian variation as instruments for a particular study related to alcohol consumption.

This piece gives a nice intro I think:

Stat Med. 2008 Apr 15;27(8):1133-63. Mendelian randomization: using genes as instruments for making causal inferences in epidemiology.

Lawlor DA1, Harbord RM, Sterne JA, Timpson N, Davey Smith G


“Observational epidemiological studies suffer from many potential biases, from confounding and from reverse causation, and this limits their ability to robustly identify causal associations. Several high-profile situations exist in which randomized controlled trials of precisely the same intervention that has been examined in observational studies have produced markedly different findings. In other observational sciences, the use of instrumental variable (IV) approaches has been one approach to strengthening causal inferences in non-experimental situations. The use of germline genetic variants that proxy for environmentally modifiable exposures as instruments for these exposures is one form of IV analysis that can be implemented within observational epidemiological studies. The method has been referred to as 'Mendelian randomization', and can be considered as analogous to randomized controlled trials. This paper outlines Mendelian randomization, draws parallels with IV methods, provides examples of implementation of the approach and discusses limitations of the approach and some methods for dealing with these.”