Reflections on the cost of "low-cost" whole genome sequencing

Framing the health policy debate

Caulfield, T., Evans, J., McGuire, A., McCabe, C., Bubela, T., Cook-Deegan, R., Fishman, J., Hogarth, S., Miller, F. A., Ravitsky, V., Biesecker, B., Borry, P., Cho, M. K., Carroll, J. C., Etchegary, H., Joly, Y., Kato, K., Lee, S. S-J., Rothenberg, K., ... Wilson, B. (2013). Reflections on the cost of "low-cost" whole genome sequencing: Framing the health policy debate. PLoS Biology, 11(11), [e1001699]. https://doi.org/10.1371/journal.pbio.1001699

Abstract

The cost of whole genome sequencing is dropping rapidly. There has been a great deal of enthusiasm about the potential for this technological advance to transform clinical care. Given the interest and significant investment in genomics, this seems an ideal time to consider what the evidence tells us about potential benefits and harms, particularly in the context of health care policy. The scale and pace of adoption of this powerful new technology should be driven by clinical need, clinical evidence, and a commitment to put patients at the centre of health care policy.

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