The $1,000 Genome is old news

I have written a few times about the coming of the $1,000 genome, and what that really means.

I recently read an excellent Forbes article by Jim Golden that argues this is already rather old news. We are apparently close, if we haven’t already arrived, at the mechanical capability for sequencing a whole genome for that price in a few hours. However, to sort through the data we generated for $1,000 and get reasoned clinical knowledge for a patient still costs $25,000-$100,000.

In cancer labs (a hotbed of genetic research), the article notes that whole genome sequencing of tumor tissue will need to be repeated multiple times for at least thousands of patients (there are over 1.4 million new cancer cases each year in the US). Repeating the genetic analysis enables tracking the mutations as a patient undergoes treatment and the tumor changes and responds. The next frontier of genomic-based clinical research is not perfect personalized medicine – that is still way off in the future. The next frontier is about having the opportunity to get insight into the patterns of disease progression, treatment and response. Only after we leverage this lower cost of genome sequencing to amass statistically significant amounts of data for all very many different kinds and sub-types of cancer will personalized treatment become a mainstay of clinical practice.

Golden concludes:

It’s not about the $1000 genome.  It’s about big data generation and analytics for insight creation over the clinical course of a patient’s journey through cancer.