Genomic sequencing: assessing the health care system, policy, and big-data implications.

Research paper by Kathryn A KA Phillips, Julia R JR Trosman, Robin K RK Kelley, Mark J MJ Pletcher, Michael P MP Douglas, Christine B CB Weldon

Indexed on: 10 Jul '14Published on: 10 Jul '14Published in: Health affairs (Project Hope)


New genomic sequencing technologies enable the high-speed analysis of multiple genes simultaneously, including all of those in a person's genome. Sequencing is a prominent example of a "big data" technology because of the massive amount of information it produces and its complexity, diversity, and timeliness. Our objective in this article is to provide a policy primer on sequencing and illustrate how it can affect health care system and policy issues. Toward this end, we developed an easily applied classification of sequencing based on inputs, methods, and outputs. We used it to examine the implications of sequencing for three health care system and policy issues: making care more patient-centered, developing coverage and reimbursement policies, and assessing economic value. We conclude that sequencing has great promise but that policy challenges include how to optimize patient engagement as well as privacy, develop coverage policies that distinguish research from clinical uses and account for bioinformatics costs, and determine the economic value of sequencing through complex economic models that take into account multiple findings and downstream costs.