Kevin's GATTACA World: Q&A: Yale University's Mark Gerstein on the Real Cost of Sequencing

Sunday 2 October 2011

Q&A: Yale University's Mark Gerstein on the Real Cost of Sequencing

A recent study by scientists at Yale University suggests that the actual cost of sequencing may be much higher than some current estimates indicate since those figures may not factor in the analysis costs that are necessary for a successful sequencing project.

In the paper, published in Genome Biology last month, Yale's Mark Gerstein and colleagues consider costs that weren't taken into account in a survey conducted by the National Human Genome Research Institute that pegged the cost per genome as of March 2011 to be a little over $10,000.

Gerstein and colleagues note that the NHGRI survey, which analyzed data from the Large-Scale Genome Sequencing Program, omitted so-called "non-production activities," such as costs for the development of computational tools to improve sequencing pipelines or downstream analysis; quality assessment and quality control; technology development to improve sequencing pipelines; management of individual sequencing projects; informatics equipment; and downstream analyses such as sequence assembly, sequence alignment, identifying variants, and the interpretation of results.

They estimate that the cost of downstream analysis for a whole-genome sequencing project could add as much as $100,000 to the overall costs.

BioInform spoke with Gerstein earlier this month. What follows is an edited version of the conversation.