disease links and personal genomics

by Beyond Lab

"Most biology today is low input, high throughput, no output biology" --Sydney Brenner (on the conference to celebrate 25th anniversary of GenBank April 2008) commented on the current information crisis in biology.

This is exactly true for personal genomics. Modern high throughput biology research has generated so much data that exceed the capacity of data storage hardware many times. For example, new DNA sequencing technique easily generates gigabyte-level data. These new techniques will make the $1000 personal genome possible in a few years.

However what do the data tell us? Not so much. There are only a number of cases where the linkage between genes and diseases has been established, such as BRCA1 and breast cancer. We are still at the starting point now in terms of genome-wide association study. The complexity of our body, the complexity of genome regulation and epigenome regulation all make this a tough work. Plus new techniques and theories appear quickly and a lot of our knowledge has to be modified, even completely discarded. And a lot of current research is not solid enough to establish the clear links we need clinically. It is still a long way before we can comfortably say that we KNOW our genome!

Researchers have to be able to be patient enough to collect more data. Personal genomics customers have to be patient enough before your genome get decoded. Don't be too excited by personal genomics companies' marketing tricks.