Archive for July, 2012

Sequencing: how clinically relevant is it?

July 29, 2012 Leave a comment

In the interview that I participated in February (gosh it’s been so long already!), the following question showed up:

  • Many critics of sequencing cite that cost (reagents and analytics) and clinical relevance are the two major shortcomings of sequencing. Now that the equipment manufacturers have brought down costs significantly, how about the clinical relevance?

Here are some thoughts. First of all, on the cost side, there still needs to be major innovation in both sequencing chemistry and assembly/annotation infrastructure. The cost needs to go down further, and the analysis needs to be much simpler to have major clinical adoption. Now about the clinical relevance, clinical data are being generated at massive scale already. There are more than 10,000 genomes sequenced in year 2011. At such pace (and growing exponentially, too!), it won’t take much time to pass the inflection point. After all, the clinical relevance scarcity today is mostly due to the lack of data, which sounds ironic cause no prior data has been as massive as WGS data! Of course, you know what I mean: the lack of data stems from the lack of understanding of links between genotypes and clinical features. When you have WGS scale genotype data in hand, all of the factors that act to shape phenotype are to be considered in order to decipher the links, which is why we say we need a lot more data (and smart analysis). The most short-term clinically relevant use of WGS data is the link between genotype and drug response, but just as importantly, it’ll enable new drug-able targets to be defined, and novel therapeutic regimes to be invented. For major cancer types, as fast as 2-5 years later, I believe we will witness sequencing to be adopted as the first line diagnosis test that physicians will order, which will then help to further scale data collection and expansion of WGS utility. In areas where the regulatory burden is much lower (e.g. post-natal, carrier screening, etc.), the adoption of WGS can be even within the next 1-3 years especially if sequencing cost were to keep the decreasing trend.

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