6 Realities of Genomic Research

The rise of next-generation sequencing has worked wonders for the field of genetics and genomics. It’s also generated a considerable amount of hype about the power of genome sequencing, particularly the possibility of individualized medicine based on genetic information. The rapid advances in technology — most recently, the Illumina X Ten system — have made heretofore impossible large-scale whole-genome sequencing studies feasible. I’ve already written about some of the possible applications of inexpensive genome sequencing.

I’m as excited about this as anyone (with the possible exception of Illumina). Even so, we should keep in mind that not everything is unicorns and rainbows when it comes to genomic research. Here are some observations I’ve made about sequencing-empowered genomic research over the past few years.

1. There is never enough power

“Power” is a term that’s being discussed more and more as we plan large-scale sequencing studies of common disease. In essence, it answers the question, “What fraction of the associated variants can we detect with this study design, given the number of samples, inheritance pattern, penetrance, etc.?” Several years ago, when...