Determining the full benefits and costs of sequencing

Achieving the “$1000 genome” has become a popular and often touted goal. Yet what has received considerably less attention is what impact sequencing will have on both benefits and costs — and how that will vary based on how the technology is used. We examined the variability in the full benefits and costs of sequencing, emphasizing that the net cost of sequencing will never be simply just the cost of testing itself and that sequencing may provide benefits in many scenarios. We developed a framework for evaluating sequencing’s benefits and costs so that the focus on the $1000 price tag does not obscure the complex decisions that must be made regarding its effective and efficient use. We also present simulations of the economic impact of sequencing using a case study.


Is the “$1000 Genome” really $1000? Understanding the full benefits and costs of genomic sequencing