genome sequencing

Genotyping cost is asymptoting to free.

With the recent announcement that Complete Genomics is soon going to release a $5000 genome, and with the intense competition expected from other vendors, it is clear that soon we will be able to get our entire genome sequence basically for free.   Hopefully the business model for these companies will be able to tolerate this (there are something like 10 billion humans, so maybe they can make it up in volume).  This is tremendously exciting scientifically and medically.  It has lots of ramifications–it will be easier to know someone’s genome sequence than their name and definitely easier than becoming their friend.  We should be able to use this information to do some pretty good genome-informed medicine (like pharmacogenomics and more predictive diagnostics).

However….The current interest in “protecting” consumers by ensuring quality control by vendors seems to miss the point:  this is becoming so available  that people will be able to buy a machine and do it in their garage.   We must work to educate every day people about how to interpret their genome and how to use the information beneficially.   Trying to protect them in a paternalistic manner is going to fail, I fear–because it will be too easy to get the information cheaply.   So solutions that rely on government regulations or mandatory insertion of a physician in the process of ordering genetic sequencing (don’t get me wrong, I love physicians–I am one) are not going to work.

But this is a very exciting time.  I think we can anticipate similar announcements from other companies in the next 12 months.  Some of us are thinking of doing a comparison of these services by ordering them and comparing the results–along with an analysis of the usefulness and accuracy of any annotation they provide.