title: Genomic sequencing: assessing the health care system, policy, and big-data implications.
abstract: 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.
authors.affiliation: Kathryn A. Phillips (PhillipsK@pharmacy.ucsf.edu) is a professor in the Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), the Department of Clinical Pharmacy, the Philip R. Lee Institute for Health Policy, and the Helen Diller Family Comprehensive Cancer Center, all at the University of California, San Francisco (UCSF).
authors.forename: Kathryn A
authors.initials: KA
authors.lastname: Phillips
authors.affiliation: Julia R. Trosman is codirector of the Center for Business Models in Healthcare, in Chicago, Illinois, and an adjunct faculty member in the Department of Clinical Pharmacy, UCSF.
authors.forename: Julia R
authors.initials: JR
authors.lastname: Trosman
authors.affiliation: Robin K. Kelley is an assistant clinical professor in the Department of Medicine, Division of Hematology/Oncology, UCSF.
authors.forename: Robin K
authors.initials: RK
authors.lastname: Kelley
authors.affiliation: Mark J. Pletcher is an associate professor in the Department of Epidemiology and Biostatistics and the Department of Medicine, UCSF.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Pletcher
authors.affiliation: Michael P. Douglas is a program manager in TRANSPERS and the Department of Clinical Pharmacy, UCSF.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Douglas
authors.affiliation: Christine B. Weldon is codirector of the Center for Business Models in Healthcare and an adjunct faculty member in the Feinberg School of Medicine, Northwestern University, in Chicago.
authors.forename: Christine B
authors.initials: CB
authors.lastname: Weldon
mesh_terms: D057225:Data Mining / Q000379:methods*; D066264:Datasets as Topic; D003695:Delivery of Health Care; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics; D017048:Health Care Costs; D006291:Health Policy / Q000191:economics*; D006801:Humans; D019458:Insurance Coverage / Q000191:economics; D018803:Models, Economic; D017422:Sequence Analysis, DNA / Q000379:methods*
keywords: Cost of Health Care; Health Economics; Information Technology; Insurance Coverage < Insurance; Medical technology